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: cell type benign neoplasm
Accession: DOID:0060084
browse the term
Definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)
Synonyms: xref: EFO:0002422
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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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Hnf1a
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21544799
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975028
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18927292
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Amacr
alpha-methylacyl-CoA racemase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17684125
NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255
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Apc
APC regulator of WNT signaling pathway
ISO
DNA:frameshift mutations, nonsense mutations:exon:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9111214 PMID:10383901 PMID:12034317 PMID:19092804 PMID:30188895 PMID:11677205 More...
RGD:2317202
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519 PMID:23913004
NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:189,020,722...189,048,837
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Atp2a3
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23913004
NCBI chr10:58,079,710...58,111,279
Ensembl chr10:57,582,128...57,612,748
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr X:156,367,582...156,464,085
Ensembl chr X:151,216,507...151,286,775
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10223192 PMID:10426811
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10426811
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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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23913001 PMID:23913004
NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10223192 PMID:10965019
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11376689
NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
protein:decreased expression: :
RGD
PMID:24080855
RGD:10401654
NCBI chr14:106,811,769...106,890,961
Ensembl chr14:102,610,908...102,690,018
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Esr2
estrogen receptor 2
ISO
ratio with Esr1;mRNA:decreased expression:thyroid gland (human)
RGD
PMID:11721176
RGD:8694118
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926031
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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Gjb1
gap junction protein, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926031
NCBI chr X:70,541,845...70,549,776
Ensembl chr X:66,501,820...66,509,925
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1611713
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Ins2
insulin 2
ISO
protein:increased secretion:serum
RGD
PMID:12917331
RGD:2317273
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23913001 PMID:23913004
NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:30,724,925...30,753,518
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Klf5
KLF transcription factor 5
ISO
RGD
PMID:14726538
RGD:1304288
NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810
NCBI chr 4:179,916,255...179,949,613
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Men1
menin 1
ISO
DNA:deletion:exons
RGD
PMID:12917331
RGD:2317273
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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Mir144
microRNA 144
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr10:63,459,397...63,459,479
Ensembl chr10:62,961,348...62,961,430
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Mir345
microRNA 345
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 6:133,518,403...133,518,498
Ensembl chr 6:127,754,027...127,754,122
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Mir425
microRNA 425
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 8:118,143,084...118,143,166
Ensembl chr 8:109,264,555...109,264,637
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Mir497
microRNA 497
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr10:55,450,171...55,450,239
Ensembl chr10:54,951,505...54,951,584
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Mir500
microRNA 500
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr X:17,930,647...17,930,726
Ensembl chr X:15,258,768...15,258,859
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17389618
NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425
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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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Ncam1
neural cell adhesion molecule 1
ISO
protein:increased expression:gallbladder
RGD
PMID:15100237
RGD:2326070
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
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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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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2274009 PMID:12058109
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062
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Ptma
prothymosin alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10822126
NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:87,176,230...87,180,333
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18483336
NCBI chr 2:54,225,736...54,236,022
Ensembl chr 2:52,498,339...52,508,852
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16963246
NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
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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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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17389618
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21946351
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
DNA:hypermethylation:promoter: (human)
RGD
PMID:29945573
RGD:151347590
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17823441
NCBI chr 3:134,499,617...134,588,113
Ensembl chr 3:114,046,258...114,135,190
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8413627
NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:110,341,581...110,474,538
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Txnrd1
thioredoxin reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18483336
NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863
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Vhl
von Hippel-Lindau tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16061637
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Traf7
TNF receptor associated factor 7
ISO
DNA:missense mutations:multiple
RGD
PMID:29148537
RGD:151356962
NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203
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Alx4
ALX homeobox 4
severity
ISO
DNA:altered methylation:plasma:
RGD
PMID:20140221
RGD:153344541
NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:79,611,719...79,648,260
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12810952
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Cdx2
caudal type homeo box 2
ISO
RGD
PMID:9052785
RGD:734757
NCBI chr12:12,762,769...12,769,246
Ensembl chr12:7,726,798...7,733,142
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Defa5
defensin alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15844706
NCBI chr16:77,044,994...77,047,318
Ensembl chr16:70,342,530...70,344,836
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Septin9
septin 9
severity
ISO
DNA:altered methylation:plasma:
RGD
PMID:20140221
RGD:153344541
NCBI chr10:102,908,557...103,077,789
Ensembl chr10:102,409,711...102,579,055
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Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:19427313
RGD:150340551
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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Ifitm1
interferon induced transmembrane protein 1
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:205,496,757...205,498,796
Ensembl chr 1:196,067,963...196,069,169
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Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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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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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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Ogg1
8-oxoguanine DNA glycosylase
no_association
ISO
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD
PMID:19265534 PMID:17932460 PMID:17932460
RGD:8657154 , RGD:8657155 , RGD:8657155
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Pten
phosphatase and tensin homolog
ISO
protein:increased expression:kidney (human)
RGD
PMID:22737271
RGD:12802360
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:kidney
RGD
PMID:15994429
RGD:2298537
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:kidney
RGD
PMID:15994429
RGD:2298537
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Tsc2
TSC complex subunit 2
ISO
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney
RGD
PMID:19265534
RGD:8657154
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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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
G
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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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
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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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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2
ClinVar
PMID:1316610 PMID:1324223 PMID:7661930 PMID:8990002 PMID:9950360 PMID:11317365 PMID:15108288 PMID:17963004 PMID:20223039 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 PMID:31062380 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Galnt12
polypeptide N-acetylgalactosaminyltransferase 12
ISO
ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated
ClinVar
PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:24357849 PMID:25741868 PMID:26467025 PMID:26845104 PMID:27153395 PMID:28492532 PMID:28944238 PMID:29095867 PMID:29596542 PMID:29749045 PMID:31548401 PMID:33193653 More...
NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Attenuated familial adenomatous polyposis
ClinVar
PMID:9585611 PMID:11257105 PMID:12034871 PMID:16461775 PMID:17963004 PMID:18433509 PMID:20301519 PMID:20685668 PMID:25741868 PMID:25980754 PMID:28492532 PMID:34666312 PMID:36988593 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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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...
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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
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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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Ptch1
patched 1
ISO
DNA:missense mutations, nonsense mutations
RGD
PMID:25395299
RGD:150523793
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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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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Pten
phosphatase and tensin homolog
disease_progression
ISO
associated with schistosomiasis;protein:decreased expression:urothelium (human)
RGD
PMID:26916953
RGD:127285612
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29103775
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
associated with Vulvar Neoplasms;mRNA:increased expression:vulva
RGD
PMID:17471573
RGD:2289255
NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:skin:
RGD
PMID:10583111
RGD:8662826
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Nrf1
nuclear respiratory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr 4:59,632,366...59,738,166
Ensembl chr 4:58,664,957...58,825,328
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Ppargc1a
PPARG coactivator 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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Tfam
transcription factor A, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,356,197...17,368,292
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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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Sash1
SAM and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | ClinVar Annotator: match by term: SASH1-related condition
OMIM ClinVar
PMID:25315659 PMID:25741868 PMID:28492532
NCBI chr 1:4,940,207...5,238,777
Ensembl chr 1:3,121,332...3,439,870
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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
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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
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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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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
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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
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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
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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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Adar
adenosine deaminase, RNA-specific
disease_progression
ISO
protein:increased expression:cervix squamous epithelium (human)
RGD
PMID:28109322
RGD:125097518
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282
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Bax
BCL2 associated X, apoptosis regulator
ISO
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Birc2
baculoviral IAP repeat-containing 2
disease_progression
ISO
DNA, protein:amplification, increased expression:uterine cervix, nucleus
RGD
PMID:12208731
RGD:1643529
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
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Brip1
BRCA1 interacting DNA helicase 1
severity
ISO
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr10:71,402,035...71,528,083
Ensembl chr10:70,907,371...71,030,324
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Ccl22
C-C motif chemokine ligand 22
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400
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Ccr4
C-C motif chemokine receptor 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:114,176,974...114,178,056
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Cd82
Cd82 molecule
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15642213
RGD:2289399
NCBI chr 3:99,842,748...99,887,298
Ensembl chr 3:79,385,887...79,431,809
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Fgf7
fibroblast growth factor 7
ISO
cervical squamous cell carcinoma
RGD
PMID:17306351
RGD:2289084
NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:113,281,283...113,332,929
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Fgfr3
fibroblast growth factor receptor 3
no_association
ISO
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
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Foxp3
forkhead box P3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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Mir21
microRNA 21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mir31
microRNA 31
ISO
RNA:increased expression:blood serum (human)
RGD
PMID:21658006
RGD:152998938
NCBI chr 5:108,714,849...108,714,954
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Pdpn
podoplanin
disease_progression
ISO
RGD
PMID:16528371
RGD:2292237
NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656
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Smad3
SMAD family member 3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611
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Tmbim6
transmembrane BAX inhibitor motif containing 6
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr 7:132,405,217...132,422,492
Ensembl chr 7:130,527,316...130,543,633
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Tnfrsf4
TNF receptor superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599
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Tnfsf4
TNF superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr13:76,256,654...76,280,133
Ensembl chr13:73,723,329...73,746,788
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Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:17969407
RGD:2298526
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:16803522
RGD:2293719
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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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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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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Myl3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816
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Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3975110 PMID:8445622 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:10664159 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:23910200 PMID:25741868 PMID:28492532 PMID:28643929 PMID:31986066 More...
NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234 PMID:25895133
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:22057234 PMID:25895133
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Ihh
Indian hedgehog signaling molecule
ISO
RGD
PMID:26091072
RGD:12910968
NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human)
RGD
PMID:20577567
RGD:11069623
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Smo
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:26091072
RGD:12910968
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
G
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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Bmpr1a
bone morphogenetic protein receptor type 1A
ISS
OMIM:612242
MouseDO
NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616
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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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Adam3a
ADAM metallopeptidase domain 3A
ISO
DNA, mRNA:amplification, increase expression
RGD
PMID:25491297
RGD:13831354
NCBI chr16:74,002,566...74,052,579
Ensembl chr16:67,299,949...67,349,968
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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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Aldoa
aldolase, fructose-bisphosphate A
ISO
protein:increased expression:pancreas
RGD
PMID:19077459
RGD:2325696
NCBI chr 1:190,832,820...190,838,021
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2
aldolase 1 A retrogene 2
ISO
protein:increased expression:pancreas
RGD
PMID:19077459
RGD:2325696
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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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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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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Krt10
keratin 10
ISO
ClinVar Annotator: match by term: Epidermolytic acanthoma
ClinVar
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
NCBI chr10:84,834,865...84,839,160
Ensembl chr10:84,338,706...84,343,701
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Col4a5
collagen type IV alpha 5 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17069596
NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692
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Col4a6
collagen type IV alpha 6 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17069596
NCBI chr X:109,554,945...109,905,987
Ensembl chr X:104,766,957...105,117,500
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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Adcyap1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:120,550,236...120,569,096
Ensembl chr 9:113,103,718...113,109,773
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Ajuba
ajuba LIM protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr15:31,989,796...32,000,042
Ensembl chr15:28,019,778...28,030,021
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Akt1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
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Atm
ATM serine/threonine kinase
disease_progression
ISO
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)
RGD
PMID:17019709
RGD:150340713
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr10:54,817,473...54,823,708
Ensembl chr10:54,318,701...54,324,933
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Axin1
axin 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
disease_progression
ISO
RGD
PMID:28053542
RGD:153350138
NCBI chr12:22,044,685...22,051,248
Ensembl chr12:16,931,024...16,939,091
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Azin1
antizyme inhibitor 1
ISO
RGD
PMID:24302582
RGD:14700707
NCBI chr 7:71,539,711...71,566,515
Ensembl chr 7:69,654,663...69,681,578
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Blvrb
biliverdin reductase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:82,738,695...82,770,375
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
RGD
PMID:21165554
RGD:126781701
NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690
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Bmp6
bone morphogenetic protein 6
ISO
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365
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Brca1
BRCA1, DNA repair associated
ISO
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
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
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:26832883
RGD:14398496
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,217,407...18,220,979
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547
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Calr
calreticulin
ameliorates
ISO
CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:21517111 PMID:19684620 PMID:23814025
RGD:150521703 , RGD:150521679
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414
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Capza1
capping actin protein of muscle Z-line subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:195,008,035...195,053,100
Ensembl chr 2:192,319,702...192,364,480
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Car1
carbonic anhydrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208
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Car12
carbonic anhydrase 12
severity
ISO
RGD
PMID:26316888
RGD:155226859
NCBI chr 8:76,169,723...76,225,465
Ensembl chr 8:67,274,359...67,330,440
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Car2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818
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Casp8
caspase 8
exacerbates
ISO
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
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Cbx8
chromobox 8
severity
ISO
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chr10:104,793,062...104,795,500
Ensembl chr10:104,294,518...104,297,024
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Cchcr1
coiled-coil alpha-helical rod protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050
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Cfl1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human)
RGD
PMID:23844051 PMID:27610024
RGD:150524358 , RGD:151361143
NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
exacerbates disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170 PMID:33603170
RGD:151361143 , RGD:151667905 , RGD:151667905
NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chr 8:64,312,644...64,333,319
Ensembl chr 8:55,418,313...55,437,027
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Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:3,769,522...3,778,367
Ensembl chr20:3,761,461...3,773,712
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Clptm1l
CLPTM1-like
susceptibility no_association
ISO
DNA:SNP: :rs451360(human) DNA:SNP: :rs401681(human) mRNA:increased expression:esophagus
RGD
PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268
RGD:11572962 , RGD:150537098 , RGD:150530497 , RGD:150530488
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530
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Col14a1
collagen type XIV alpha 1 chain
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 7:88,611,827...88,826,939
Ensembl chr 7:86,722,094...86,937,214
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Crabp1
cellular retinoic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chr 8:64,047,431...64,055,469
Ensembl chr 8:55,151,285...55,159,360
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:17171785
RGD:152023646
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:11860825
RGD:14700943
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
IEP
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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Cyp26b1
cytochrome P450, family 26, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:117,041,808...117,058,628
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Dab2ip
DAB2 interacting protein
severity
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:18,915,290...19,086,280
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Dcc
DCC netrin 1 receptor
ISO
DNA:deletions:multiple (human)
OMIM RGD
PMID:8187090
RGD:734879
NCBI chr18:67,144,272...68,248,159
Ensembl chr18:64,873,898...65,972,740
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Dido1
death inducer-obliterator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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Dpp4
dipeptidylpeptidase 4
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:46,962,243...47,043,901
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Efnb2
ephrin B2
severity exacerbates ameliorates
ISO
mRNA:increased expression:esophagus squamous epithelium (human) mRNA,protein:increased expression:esophagus squamous epithelium (human) human cells in mouse model
RGD
PMID:17611172 PMID:31885720 PMID:29190834
RGD:153300947 , RGD:153300949 , RGD:153300948
NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391
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Egfr
epidermal growth factor receptor
severity
ISO
protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21947696 PMID:10385363
RGD:5131486
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Ehmt1
euchromatic histone lysine methyltransferase 1
disease_progression
ISO
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 , RGD:9590071
NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:7,580,683...7,729,007
G
Ehmt2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,919,624...3,941,547
G
Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
Epb41l3
erythrocyte membrane protein band 4.1-like 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 9:116,502,864...116,707,274
Ensembl chr 9:109,016,113...109,260,607
G
Ephb4
EPH receptor B4
exacerbates
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
G
Erbb4
erb-b2 receptor tyrosine kinase 4
susceptibility disease_progression
ISO
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) protein:altered localization:nucleus
RGD
PMID:24916311 PMID:18000820
RGD:126781764 , RGD:126781765
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
RGD
PMID:23263828
RGD:11252162
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
RGD
PMID:25613619 PMID:21165554
RGD:126781697 , RGD:126781701
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Fanca
FA complementation group A
ISO
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr19:68,210,562...68,271,080
Ensembl chr19:51,304,021...51,362,527
G
Fap
fibroblast activation protein, alpha
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 3:67,547,398...67,616,271
Ensembl chr 3:47,138,813...47,225,545
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr10:106,570,415...106,588,581
Ensembl chr10:106,072,091...106,090,261
G
Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human)
CTD RGD
PMID:25151357 PMID:29365412 PMID:24590895
RGD:151347646 , RGD:151347630
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107
G
Fat2
FAT atypical cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216
G
Fat3
FAT atypical cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 8:20,972,840...21,555,679
Ensembl chr 8:12,694,019...13,273,135
G
Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707
G
Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:170,149,694...170,309,941
G
Fes
FES proto-oncogene, tyrosine kinase
exacerbates
ISO
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chr 1:143,746,945...143,756,181
Ensembl chr 1:134,337,698...134,346,934
G
Fgfr4
fibroblast growth factor receptor 4
treatment
ISO
RGD
PMID:25989802
RGD:150520041
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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Fkbp1a
FKBP prolyl isomerase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:160,500,748...160,520,492
Ensembl chr 3:140,040,278...140,060,743
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Foxa1
forkhead box A1
onset
ISO
DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)
RGD
PMID:27050876 PMID:29788741
RGD:151665743 , RGD:151665759
NCBI chr 6:80,838,380...80,871,195
Ensembl chr 6:75,103,503...75,136,188
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Fubp1
far upstream element binding protein 1
exacerbates
ISO
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus (human)
RGD
PMID:26490982 PMID:32481602
RGD:151361192 , RGD:151361197
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602
G
Gdi2
GDP dissociation inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:71,559,460...71,586,147
Ensembl chr17:66,649,619...66,676,366
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Glo1
glyoxalase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:8,665,061...8,683,095
Ensembl chr20:8,662,801...8,681,649
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:30018730 PMID:25050929
RGD:151665494 , RGD:151665741
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
G
Grb7
growth factor receptor bound protein 7
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:10797316
RGD:151347654
NCBI chr10:83,936,538...83,949,344
Ensembl chr10:83,444,004...83,453,052
G
Gstm1
glutathione S-transferase mu 1
no_association
ISO
RGD
PMID:11860825 PMID:17916905 PMID:25432134
RGD:14700943 , RGD:14700982 , RGD:14700948
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gsto1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:256,662,377...256,672,515
Ensembl chr 1:246,721,221...246,731,468
G
Gstp1
glutathione S-transferase pi 1
ISO
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17173682 PMID:25432134 PMID:17916905
RGD:14700948 , RGD:14700982
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
H19
H19 imprinted maternally expressed transcript
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32739445
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hmgn5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441 Ensembl chr 1:74,085,875...74,094,441
G
Hoxb7
homeo box B7
severity
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chr10:81,749,159...81,752,577
Ensembl chr10:81,252,553...81,256,034
G
Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891
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Htra1
HtrA serine peptidase 1
exacerbates ameliorates
ISO
mRNA,protein:decreased expression:epithelium of esophagus (human) human gene and cells in mouse model
RGD
PMID:23079781 PMID:23079781
RGD:152975633 , RGD:152975633
NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:185,497,735...185,547,379
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity
ISO
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
G
Jak2
Janus kinase 2
severity
ISO
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:30227324 PMID:19758438
RGD:151347669 , RGD:151347672
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
G
Kat2b
lysine acetyltransferase 2B
ISO
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,562,288...6,667,064
G
Kdm4c
lysine demethylase 4C
severity susceptibility
ISO
protein:increased expression:esophageal epithelium, nucleus (human) DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD
PMID:24224128 PMID:15805246
RGD:9587746 , RGD:9587752
NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:88,100,733...88,306,818
G
Kdm5b
lysine demethylase 5B
severity
ISO
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chr13:48,554,367...48,625,721
Ensembl chr13:46,002,542...46,073,872
G
Kdm6a
lysine demethylase 6A
ameliorates
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human)
CTD RGD
PMID:25151357 PMID:31804468 PMID:29351209
RGD:150429742 , RGD:150429739
NCBI chr X:6,920,374...7,060,027
Ensembl chr X:4,337,750...4,477,062
G
Kmt2c
lysine methyltransferase 2C
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357
RGD:9588233
NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539
G
Kmt2d
lysine methyltransferase 2D
ISO
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357 PMID:29532228
RGD:9588233 , RGD:150521712
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
G
Krt13
keratin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:85,552,287...85,556,499
Ensembl chr10:85,051,889...85,056,084
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Krt14
keratin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr10:85,638,182...85,642,450
Ensembl chr10:85,066,802...85,171,799
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Krt16
keratin 16
IEP
RGD
PMID:8950218
RGD:633113
NCBI chr10:85,669,276...85,672,211
Ensembl chr10:85,066,802...85,171,799
G
Krt17
keratin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
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Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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Krt7
keratin 7
disease_progression
ISO
RGD
PMID:29788741
RGD:151665759
NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:132,528,895...132,545,052
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chr15:51,091,547...51,182,843
Ensembl chr15:44,683,880...44,773,067
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Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
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Lzts1
leucine zipper tumor suppressor 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chr16:25,309,502...25,364,942
Ensembl chr16:20,542,809...20,598,203
G
Mad2l1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 4:97,236,419...97,247,603
Ensembl chr 4:95,906,817...95,913,470
G
Map3k1
mitogen-activated protein kinase kinase kinase 1
sexual_dimorphism
ISO
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)
RGD
PMID:32753933
RGD:150573717
NCBI chr 2:45,081,889...45,150,555
Ensembl chr 2:43,350,098...43,414,463
G
Mbd4
methyl-CpG binding domain 4 DNA glycosylase
susceptibility
ISO
DNA:snp:cds:p.E346K (rs140693) (human) DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD
PMID:15205355 PMID:25162968
RGD:9588976 , RGD:9588980
NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982
G
Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD RGD
PMID:25520135 PMID:21674174
RGD:126790574
NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756
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Mir10a
microRNA 10a
ISO
miRNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32997362
RGD:153323343
NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280
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Mir127
microRNA 127
ISO
RNA:decreased expression:esophagus (human)
RGD
PMID:27645894
RGD:152995354
NCBI chr 6:134,328,454...134,328,550
Ensembl chr 6:128,546,215...128,546,311
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Mir193a
microRNA 193a
exacerbates
ISO
miRNA:decreased expression:esophagus (human)
RGD
PMID:27203740
RGD:153323341
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
G
Mir217
microRNA 217
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25538231
NCBI chr14:106,732,485...106,732,589
Ensembl chr14:102,531,505...102,531,609
G
Mir31
microRNA 31
ameliorates
IMP ISO
RGD
PMID:32123074 PMID:21658006
RGD:127285381 , RGD:152998938
NCBI chr 5:108,714,849...108,714,954
G
Mir423
microRNA 423
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24205249
NCBI chr10:62,412,272...62,412,350
Ensembl chr10:61,914,133...61,914,226
G
Mir494
microRNA 494
ISO
mRNA:decreased expression:esophagus
RGD
PMID:25480402
RGD:150530497
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793
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Mlh1
mutL homolog 1
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174
RGD:126790574
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
G
Mmp14
matrix metallopeptidase 14
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
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
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Msh2
mutS homolog 2
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus DNA, protein:hypermethylation, decreased expression:esophagus
RGD
PMID:22265839 PMID:21674174 PMID:24366688
RGD:126790560 , RGD:126790574 , RGD:126790573
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
G
Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X:10,826,032...10,827,049
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
G
Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
G
Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
G
Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38467300
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
G
Pagr1
Paxip1-associated glutamate-rich protein 1
ISO
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr 1:191,053,228...191,055,554
G
Pbx3
PBX homeobox 3
ISO
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 3:37,886,241...38,079,956
Ensembl chr 3:17,488,693...17,682,791
G
Pfn1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,365,262...55,527,631
G
Plce1
phospholipase C, epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438
G
Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:135,383,906...135,399,504
Ensembl chr 5:130,147,204...130,162,856
G
Psmb9
proteasome 20S subunit beta 9
disease_progression
ISO
RGD
PMID:19492245
RGD:6482249
NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512
G
Psme1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:33,038,962...33,041,849
Ensembl chr15:29,068,729...29,071,890
G
Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:33,048,452...33,053,055
Ensembl chr15:29,078,500...29,082,946
G
Ptch1
patched 1
disease_progression
ISO
RGD
PMID:16475698
RGD:150523841
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
G
Ptprt
protein tyrosine phosphatase, receptor type, T
susceptibility
ISO
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chr 3:170,608,993...171,707,692
Ensembl chr 3:150,194,859...151,288,124
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Rictor
RPTOR independent companion of MTOR, complex 2
disease_progression severity
ISO
human cells in mouse model protein:increased expression:esophagus (human)
RGD
PMID:30119206 PMID:32642408 PMID:28132115
RGD:152995460 , RGD:152995512 , RGD:152995470
NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:55,811,322...55,901,426
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Rnf6
ring finger protein 6
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:12154016
NCBI chr12:13,929,160...13,940,663
Ensembl chr12:8,816,833...8,826,847
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Runx1
RUNX family transcription factor 1
ISO
DNA:SNP: :rs2014300 (human)
RGD
PMID:30666517
RGD:126775149
NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542
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Runx2
RUNX family transcription factor 2
ISO
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167
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Runx3
RUNX family transcription factor 3
disease_progression
ISO
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156
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Sall4
spalt-like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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Serpinb3
serpin family B member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr13:23,788,758...23,795,298
Ensembl chr13:23,274,484...23,313,682
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Setd5
SET domain containing 5
disease_progression
ISO
RGD
PMID:31981592
RGD:155804254
NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:151,110,582...151,111,854
Ensembl chr 5:145,826,201...145,831,314
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Slc16a10
solute carrier family 16 member 10
ISO
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chr20:45,014,229...45,122,392
Ensembl chr20:43,459,709...43,567,839
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Slc1a5
solute carrier family 1 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:33609949 PMID:26936531
RGD:151361149 , RGD:11532833
NCBI chr 1:86,584,949...86,599,052
Ensembl chr 1:77,456,694...77,470,952
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Slc39a6
solute carrier family 39 member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chr18:16,139,621...16,160,163
Ensembl chr18:15,864,875...15,885,417
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Slc52a3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:31726270 PMID:26936531 PMID:33609949
RGD:151361144 , RGD:11532833 , RGD:151361149
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Socs1
suppressor of cytokine signaling 1
severity treatment
ISO
mRNA:decreased expression:esophagus
RGD
PMID:21385099 PMID:31728180 PMID:28233302
RGD:150573691 , RGD:150573815 , RGD:150573812
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Spen
spen family transcriptional repressor
ISO
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:153,776,234...153,848,811
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Stim1
stromal interaction molecule 1
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,332,119...27,338,335
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Sult1a1
sulfotransferase family 1A member 1
ISO
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:12455060
RGD:1581448
NCBI chr 1:190,702,592...190,706,112
Ensembl chr 1:181,272,023...181,275,562
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Tagln
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:55,121,647...55,127,121
Ensembl chr 8:46,222,472...46,230,668
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:78,813,343...78,828,489
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Tert
telomerase reverse transcriptase
susceptibility no_association
ISO
DNA:SNPs: : rs2853691,rs2736100(human) mRNA:increased expression:esophagus squamous epithelium: DNA:SNP: :rs2736098(human)
RGD
PMID:26716642 PMID:15112252 PMID:25007268
RGD:11572962 , RGD:152977757 , RGD:150530488
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
mRNA:decreased expression:esophagus squamous epithelium (human) associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations
RGD
PMID:26093090 PMID:27050164 PMID:26873401
RGD:11528815 , RGD:150429668 , RGD:150429656
NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:115,871,265...115,964,193
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
OMIM
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
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Tnfaip8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chr18:45,370,334...45,486,036
Ensembl chr18:43,183,916...43,299,517
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
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Tp53
tumor protein p53
ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16543248 PMID:25151357 PMID:28789369
RGD:14995932
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802
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Tpm2
tropomyosin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992
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Txndc17
thioredoxin domain containing 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:56,832,749...56,835,721
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Tymp
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
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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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chr 3:134,413,832...134,463,040
Ensembl chr 3:113,962,164...114,009,666
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Uty
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
ISO
DNA:mutations:multiple (human)
RGD
PMID:25151357
RGD:9588233
NCBI chr Y:1,018,111...1,178,493
Ensembl chr Y:924,168...1,103,422
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Ventx
VENT homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:90,707,273...90,708,315
Ensembl chr X:86,483,893...86,484,954
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Wrap53
WD repeat containing, antisense to TP53
disease_progression
ISO
RGD
PMID:24626331
RGD:21081532
NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929
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Wwox
WW domain-containing oxidoreductase
ISO
esophageal squamous cell carcinoma, OMIM:133239 ClinVar Annotator: match by term: Esophageal squamous cell carcinoma | ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:11956080 PMID:16199547 PMID:24456803 PMID:25411445 PMID:25526675 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29852413 PMID:11956080 More...
RGD:1599874
NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391
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Xpo1
exportin 1
exacerbates
ISO
mRNA, protein:increased expression:epithelium of esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:24898882 PMID:25148895
RGD:151667431 , RGD:151667436
NCBI chr14:101,434,450...101,476,705
Ensembl chr14:97,233,270...97,275,498
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Xrcc1
X-ray repair cross complementing 1
no_association susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: p.R399Q (human) DNA:SNPs,haplotypes:multiple (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD RGD
PMID:16639733 PMID:11400117 PMID:25710005 PMID:27123143 PMID:28356949
RGD:151347444 , RGD:150530501 , RGD:150530634 , RGD:150530505
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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Zcchc12
zinc finger CCHC-type containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:120,299,138...120,302,465
Ensembl chr X:115,433,259...115,436,692
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
protein,mRNA:increased expression:small intestine (mouse)
RGD
PMID:12615699
RGD:8657097
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17942926
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Apc
APC regulator of WNT signaling pathway
ISO ISS IMP
ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL CTD Direct Evidence: marker/mechanism DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar MouseDO CTD RGD
PMID:1316610 PMID:1317264 PMID:1319115 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651174 PMID:1651563 PMID:1678319 PMID:1843350 PMID:1944466 PMID:2000873 PMID:2068566 PMID:2281069 PMID:2472832 PMID:2478327 PMID:7306523 PMID:7485167 PMID:7490101 PMID:7524601 PMID:7562975 PMID:7746201 PMID:7833149 PMID:7833931 PMID:7833936 PMID:7853377 PMID:8071957 PMID:8103406 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8252630 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8395941 PMID:8544194 PMID:8594558 PMID:8625067 PMID:8730280 PMID:8834176 PMID:8835324 PMID:8888441 PMID:8931709 PMID:8940262 PMID:8940264 PMID:8941012 PMID:8956059 PMID:8990002 PMID:9067764 PMID:9101302 PMID:9288102 PMID:9298819 PMID:9342373 PMID:9375853 PMID:9382065 PMID:9487968 PMID:9494520 PMID:9536098 PMID:9585599 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9703421 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9765274 PMID:9824584 PMID:9831355 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10077047 PMID:10083733 PMID:10094547 PMID:10439961 PMID:10470088 PMID:10612827 PMID:10634400 PMID:10646887 PMID:10666372 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10737795 PMID:10768871 PMID:10811618 PMID:10830991 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11040535 PMID:11159880 PMID:11207040 PMID:11221825 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11267860 PMID:11317365 PMID:11354631 PMID:11420398 PMID:11551102 PMID:11559652 PMID:11588890 PMID:11606402 PMID:11668620 PMID:11677205 PMID:11720476 PMID:11741105 PMID:11748858 PMID:11754114 PMID:11766074 PMID:11818965 PMID:11819789 PMID:11823972 PMID:11852337 PMID:11904335 PMID:11933206 PMID:11950808 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12394442 PMID:12408524 PMID:12486240 PMID:12494469 PMID:12527714 PMID:12533824 PMID:12537656 PMID:12581900 PMID:12621137 PMID:12702169 PMID:12721244 PMID:12901799 PMID:14514668 PMID:14523376 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14695993 PMID:14729851 PMID:14734220 PMID:14961559 PMID:14966376 PMID:14999774 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15133491 PMID:15266213 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15689459 PMID:15712637 PMID:15771908 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:15952110 PMID:15986289 PMID:16088911 PMID:16106429 PMID:16110024 PMID:16134147 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16569251 PMID:16616356 PMID:16650078 PMID:16875934 PMID:17026565 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17556698 PMID:17568392 PMID:17576681 PMID:17604324 PMID:17704924 PMID:17785554 PMID:17854661 PMID:17881494 PMID:17920230 PMID:17942926 PMID:17963004 PMID:18063416 PMID:18155426 PMID:18199528 PMID:18343606 PMID:18369740 PMID:18433509 PMID:18612690 PMID:18629394 PMID:18632633 PMID:18704758 PMID:18770064 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19196998 PMID:19279422 PMID:19307944 PMID:19347965 PMID:19444466 PMID:19474113 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19768578 PMID:19793053 PMID:20007843 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20564245 PMID:20649969 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21110124 PMID:21153778 PMID:21157497 PMID:21255554 PMID:21270786 PMID:21315632 PMID:21520333 PMID:21643010 PMID:21779980 PMID:21858148 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21970370 PMID:21995669 PMID:21995949 PMID:22000517 PMID:22135120 PMID:22150579 PMID:22395475 PMID:22425061 PMID:22431159 PMID:22434720 PMID:22447671 PMID:22645652 PMID:22669205 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22790147 PMID:22799487 PMID:22809634 PMID:22810696 PMID:22848674 PMID:22851115 PMID:22864254 PMID:22864938 PMID:22875147 PMID:22895193 PMID:22976915 PMID:22987206 PMID:22995991 PMID:23085758 PMID:23116752 PMID:23159591 PMID:23185543 PMID:23204322 PMID:23292937 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23576677 PMID:23700467 PMID:23709753 PMID:23715166 PMID:23757202 PMID:23806086 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24082139 PMID:24088041 PMID:24123366 PMID:24142997 PMID:24310308 PMID:24326041 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24518971 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24618431 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24750145 PMID:24790607 PMID:24841357 PMID:24861525 PMID:25085752 PMID:25142776 PMID:25148578 PMID:25157968 PMID:25159915 PMID:25178641 PMID:25183641 PMID:25186627 PMID:25200834 PMID:25203624 PMID:25231023 PMID:25256751 PMID:25257991 PMID:25280562 PMID:25318351 PMID:25326637 PMID:25338684 PMID:25356985 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25687216 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25742471 PMID:25801821 PMID:25815427 PMID:25832318 PMID:25925381 PMID:25938944 PMID:25941542 PMID:25974703 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26000489 PMID:26138249 PMID:26161710 PMID:26173098 PMID:26178707 PMID:26187149 PMID:26207792 PMID:26252958 PMID:26300997 PMID:26314409 PMID:26320869 PMID:26332594 PMID:26336887 PMID:26338694 PMID:26373296 PMID:26378065 PMID:26394139 PMID:26416840 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26480326 PMID:26486734 PMID:26493165 PMID:26508446 PMID:26511139 PMID:26517685 PMID:26530882 PMID:26556299 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26643872 PMID:26667234 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26819281 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26862949 PMID:26900293 PMID:26917275 PMID:26934580 PMID:26976419 PMID:27009842 PMID:27028212 PMID:27081525 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27158207 PMID:27284491 PMID:27302369 PMID:27311873 PMID:27329244 PMID:27354939 PMID:27425854 PMID:27435373 PMID:27443514 PMID:27449473 PMID:27449771 PMID:27498913 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27621404 PMID:27623068 PMID:27696107 PMID:27717299 PMID:27760322 PMID:27852271 PMID:27878467 PMID:27882345 PMID:27930734 PMID:27978560 PMID:27981572 PMID:28050010 PMID:28051113 PMID:28057616 PMID:28125075 PMID:28127413 PMID:28135048 PMID:28135136 PMID:28135145 PMID:28152038 PMID:28157215 PMID:28195393 PMID:28195569 PMID:28202063 PMID:28251689 PMID:28283864 PMID:28349240 PMID:28380452 PMID:28414304 PMID:28423518 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28524162 PMID:28526081 PMID:28528518 PMID:28533537 PMID:28569743 PMID:28576136 PMID:28608266 PMID:28706299 PMID:28717660 PMID:28726808 PMID:28749474 PMID:28791770 PMID:28805986 PMID:28828701 PMID:28840378 PMID:28859360 PMID:28873162 PMID:28891274 PMID:28944238 PMID:29029407 PMID:29050249 PMID:29069792 PMID:29122597 PMID:29141224 PMID:29192238 PMID:29212164 PMID:29237405 PMID:29245953 PMID:29251405 PMID:29338072 PMID:29351919 PMID:29360161 PMID:29367705 PMID:29368261 PMID:29368341 PMID:29371908 PMID:29386312 PMID:29406563 PMID:29419868 PMID:29458332 PMID:29478780 PMID:29487696 PMID:29506128 PMID:29510987 PMID:29562902 PMID:29570743 PMID:29596542 PMID:29625052 PMID:29641532 PMID:29683816 PMID:29684080 PMID:29696324 PMID:29710228 PMID:29723602 PMID:29748005 PMID:29753700 PMID:29754767 PMID:29868112 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30006736 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30102335 PMID:30113427 PMID:30122538 PMID:30148152 PMID:30152102 PMID:30171174 PMID:30239046 PMID:30252101 PMID:30256815 PMID:30256826 PMID:30257133 PMID:30267214 PMID:30279230 PMID:30287922 PMID:30306255 PMID:30324682 PMID:30374176 PMID:30426508 PMID:30458888 PMID:30487145 PMID:30613976 PMID:30620386 PMID:30666417 PMID:30680046 PMID:30696621 PMID:30705875 PMID:30720243 PMID:30814645 PMID:30877237 PMID:30897307 PMID:30980208 PMID:30981987 PMID:31019283 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31118792 PMID:31127692 PMID:31131953 PMID:31133068 PMID:31159747 PMID:31175917 PMID:31186761 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31283021 PMID:31285513 PMID:31360874 PMID:31372739 PMID:31403082 PMID:31422818 PMID:31428572 PMID:31444830 PMID:31447099 PMID:31465090 PMID:31469036 PMID:31486992 PMID:31504825 PMID:31520998 PMID:31547467 PMID:31552911 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31702654 PMID:31703593 PMID:31780696 PMID:31802619 PMID:31854063 PMID:31874108 PMID:31921681 PMID:31937788 PMID:31942411 PMID:31970404 PMID:32068069 PMID:32070411 PMID:32088909 PMID:32091409 PMID:32123317 PMID:32187665 PMID:32251017 PMID:32255556 PMID:32268276 PMID:32292534 PMID:32390703 PMID:32504335 PMID:32547059 PMID:32547938 PMID:32590455 PMID:32635641 PMID:32658311 PMID:32720237 PMID:32751567 PMID:32754865 PMID:32829589 PMID:32854451 PMID:32913981 PMID:32957588 PMID:32980694 PMID:32984025 PMID:32992489 PMID:32994724 PMID:32999869 PMID:33009979 PMID:33087929 PMID:33094510 PMID:33134403 PMID:33193653 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33332384 PMID:33352971 PMID:33359728 PMID:33436027 PMID:33503190 PMID:33525650 PMID:33558524 PMID:33569305 PMID:33606809 PMID:33646313 PMID:33670833 PMID:33753878 PMID:33769591 PMID:33773808 PMID:33788735 PMID:33821390 PMID:33875564 PMID:34034685 PMID:34106356 PMID:34224960 PMID:34250417 PMID:34259353 PMID:34271781 PMID:34301788 PMID:34326862 PMID:34347074 PMID:34388351 PMID:34426522 PMID:34479915 PMID:34545850 PMID:34646395 PMID:34654685 PMID:34666312 PMID:34707284 PMID:34754157 PMID:34771502 PMID:34855061 PMID:34897210 PMID:34921310 PMID:35014770 PMID:35098669 PMID:35128723 PMID:35142982 PMID:35189564 PMID:35205366 PMID:35260767 PMID:35264596 PMID:35296888 PMID:35430768 PMID:35467778 PMID:35534218 PMID:35534704 PMID:35939113 PMID:35966080 PMID:35979026 PMID:35980532 PMID:36084716 PMID:36097219 PMID:36179682 PMID:36225625 PMID:36243179 PMID:36315513 PMID:36356413 PMID:36586069 PMID:36672847 PMID:36807005 PMID:36896836 PMID:36900197 PMID:36901686 PMID:36988593 PMID:37038467 PMID:37149903 PMID:37306523 PMID:37542411 PMID:37577746 PMID:37591896 PMID:37894428 PMID:37937776 PMID:37943618 PMID:38054408 PMID:38136308 PMID:38504345 PMID:38874686 PMID:39042403 PMID:39284955 PMID:18432252 PMID:17360473 PMID:15118671 More...
RGD:2293188 , RGD:1601201 , RGD:1331525
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
ApcPirc
APC, WNT signaling pathway regulator; polyposis in the rat colon
IMP
RGD
PMID:17360473
RGD:1601201
G
Axin2
axin 2
ISO
protein:increased expression:mucosa:
RGD
PMID:11809809
RGD:151356508
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
G
Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28255344
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
G
Csf1r
colony stimulating factor 1 receptor
severity
ISO
DNA:SNPs,haplotype:promoter:multiple (pig)
RGD
PMID:32717306
RGD:150524307
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
G
Cyp26a1
cytochrome P450, family 26, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16885356
NCBI chr 1:244,883,822...244,887,657
Ensembl chr 1:235,471,298...235,475,204
G
Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25200834
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
G
F5
coagulation factor V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25200834
NCBI chr13:79,046,657...79,116,247
Ensembl chr13:76,513,255...76,582,317
G
Fmo3
flavin containing dimethylaniline monoxygenase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17559352
NCBI chr13:77,838,899...77,868,869
Ensembl chr13:75,309,374...75,328,028
G
Grem1
gremlin 1, DAN family BMP antagonist
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Mixed Polyposis
CTD ClinVar
PMID:22561515
NCBI chr 3:120,966,639...120,978,319
Ensembl chr 3:100,512,313...100,524,082
G
Hdac2
histone deacetylase 2
treatment
ISO
RGD
PMID:24218540
RGD:9590246
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
G
Ihh
Indian hedgehog signaling molecule
ISO
RGD
PMID:25307863
RGD:11528847
NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25200834
NCBI chr16:6,086,985...6,102,162
Ensembl chr16:6,080,539...6,095,708
G
Lrg1
leucine-rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25200834
NCBI chr 9:1,034,691...1,036,937
Ensembl chr 9:947,516...949,813
G
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
G
Mir155
microRNA 155
ISO
miRNA:decreased expression:colon
RGD
PMID:30072583
RGD:21409749
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
G
Msh3
mutS homolog 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:25,179,400...25,320,857
G
Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:166460 PMID:2914711 PMID:9536098 PMID:11818965 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:12917422 PMID:14579148 PMID:14991577 PMID:15034862 PMID:15036665 PMID:15180946 PMID:15188161 PMID:15366000 PMID:15465463 PMID:15635083 PMID:15690400 PMID:15890374 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16134147 PMID:16140997 PMID:16207212 PMID:16287072 PMID:16338133 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16890597 PMID:16941501 PMID:16996809 PMID:17031395 PMID:17081686 PMID:17122612 PMID:17161978 PMID:17252231 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17576681 PMID:17581577 PMID:17674103 PMID:17703316 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18172263 PMID:18271935 PMID:18414213 PMID:18422726 PMID:18495334 PMID:18506705 PMID:18515411 PMID:18534194 PMID:18992148 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19300419 PMID:19394335 PMID:19414147 PMID:19443904 PMID:19506731 PMID:19527492 PMID:19531215 PMID:19620482 PMID:19725997 PMID:19732775 PMID:19793053 PMID:19806110 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20110747 PMID:20191381 PMID:20418187 PMID:20571908 PMID:20618354 PMID:20663686 PMID:20687945 PMID:20725929 PMID:20816984 PMID:20848659 PMID:21063410 PMID:21153778 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21235684 PMID:21287799 PMID:21424714 PMID:21443744 PMID:21520333 PMID:21777424 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22266422 PMID:22297469 PMID:22473953 PMID:22538434 PMID:22641385 PMID:22703879 PMID:22744763 PMID:22773231 PMID:22865608 PMID:22922830 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23138270 PMID:23322991 PMID:23361220 PMID:23383274 PMID:23460355 PMID:23561487 PMID:23599153 PMID:23605219 PMID:23625202 PMID:23729658 PMID:23805267 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24377541 PMID:24444654 PMID:24470512 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24799981 PMID:24953332 PMID:25186627 PMID:25318351 PMID:25326637 PMID:25368107 PMID:25503501 PMID:25525159 PMID:25569433 PMID:25590978 PMID:25741868 PMID:25820570 PMID:25856671 PMID:25927356 PMID:25937855 PMID:25938944 PMID:25980754 PMID:26202870 PMID:26296696 PMID:26300997 PMID:26332594 PMID:26377631 PMID:26436112 PMID:26446593 PMID:26467025 PMID:26511139 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26632267 PMID:26681312 PMID:26684149 PMID:26684191 PMID:26689913 PMID:26822237 PMID:26824983 PMID:26837502 PMID:26845104 PMID:26902849 PMID:26976419 PMID:27014339 PMID:27077130 PMID:27153395 PMID:27194394 PMID:27276934 PMID:27377421 PMID:27443514 PMID:27631816 PMID:27696107 PMID:27705013 PMID:27720647 PMID:27783336 PMID:27797849 PMID:27799157 PMID:27829682 PMID:27870730 PMID:28127763 PMID:28135145 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28199314 PMID:28202063 PMID:28251689 PMID:28332257 PMID:28349240 PMID:28445943 PMID:28492532 PMID:28495237 PMID:28502729 PMID:28503720 PMID:28526081 PMID:28533537 PMID:28551381 PMID:28577310 PMID:28634180 PMID:28687356 PMID:28709830 PMID:28717660 PMID:28726808 PMID:28861346 PMID:28873161 PMID:28873162 PMID:28944238 PMID:29093764 PMID:29147111 PMID:29212164 PMID:29330641 PMID:29368341 PMID:29371908 PMID:29406563 PMID:29431110 PMID:29458332 PMID:29478780 PMID:29484706 PMID:29490034 PMID:29506128 PMID:29557500 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29684080 PMID:29700634 PMID:29766397 PMID:29785153 PMID:29954149 PMID:29967336 PMID:29978187 PMID:30067863 PMID:30093976 PMID:30122538 PMID:30151275 PMID:30256826 PMID:30267214 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30613976 PMID:30620386 PMID:30676620 PMID:30680046 PMID:30702970 PMID:30787465 PMID:30833417 PMID:30833958 PMID:30850667 PMID:30852976 PMID:30877237 PMID:30886832 PMID:30953464 PMID:30982232 PMID:31104418 PMID:31159747 PMID:31203172 PMID:31214250 PMID:31263571 PMID:31273614 PMID:31285513 PMID:31360874 PMID:31422818 PMID:31447099 PMID:31512090 PMID:31575519 PMID:31589614 PMID:31618753 PMID:31739127 PMID:31829624 PMID:31867841 PMID:31921681 PMID:31942411 PMID:31970404 PMID:31980526 PMID:32066632 PMID:32068069 PMID:32088803 PMID:32231684 PMID:32255556 PMID:32283892 PMID:32338768 PMID:32390558 PMID:32390703 PMID:32570879 PMID:32615015 PMID:32658311 PMID:32830346 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32904697 PMID:32906206 PMID:32980694 PMID:33024574 PMID:33077847 PMID:33087929 PMID:33130102 PMID:33134171 PMID:33193653 PMID:33258288 PMID:33309985 PMID:33332384 PMID:33383211 PMID:33384714 PMID:33442023 PMID:33471974 PMID:33471991 PMID:33504652 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33748650 PMID:33858029 PMID:33878367 PMID:34026625 PMID:34259353 PMID:34271781 PMID:34285288 PMID:34308366 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34426522 PMID:34506673 PMID:34687117 PMID:34704405 PMID:34716202 PMID:34816434 PMID:34897210 PMID:34994648 PMID:35089076 PMID:35098669 PMID:35205332 PMID:35264596 PMID:35273153 PMID:35430768 PMID:35534218 PMID:35534704 PMID:35535697 PMID:35545820 PMID:35626031 PMID:35628513 PMID:35668106 PMID:35980532 PMID:36119527 PMID:36243179 PMID:36988593 PMID:37239438 PMID:37310942 PMID:37937776 PMID:38060977 PMID:38062336 PMID:38254803 PMID:38566764 PMID:39825153 PMID:11818965 More...
RGD:1600191
NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
G
Nthl1
nth-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938944
NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957
G
Plcg1
phospholipase C, gamma 1
ISO
protein:increased expression:colonic mucosa (human)
RGD
PMID:8174133
RGD:151356944
NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330
G
Pold1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis
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
Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis
ClinVar
PMID:20951805 PMID:21157497 PMID:22980975 PMID:23636398 PMID:24033266 PMID:25079317 PMID:25124163 PMID:25224212 PMID:25529843 PMID:25559809 PMID:25642631 PMID:25741868 PMID:25860647 PMID:26467025 PMID:26822575 PMID:28427513 PMID:28492532 PMID:29120461 PMID:29754823 PMID:29987844 PMID:30194485 PMID:30503519 PMID:32424176 PMID:32792570 PMID:35108036 PMID:35534205 PMID:35534704 More...
NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17942926
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12907644
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar
PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
G
Toe1
target of EGR1, exonuclease
ISO
ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar
PMID:25186627 PMID:25741868 PMID:26467025 PMID:27720647 PMID:28492532
NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050
G
Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar
PMID:15308610 PMID:17970811 PMID:25741868 PMID:28492532 PMID:31557081 PMID:36705686 More...
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Ablim3
actin binding LIM protein family, member 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,527,917...57,646,936
Ensembl chr18:55,257,583...55,376,380
G
Acsl6
acyl-CoA synthetase long-chain family member 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,940,668...38,999,515
Ensembl chr10:38,440,080...38,498,757
G
Adamts19
ADAM metallopeptidase with thrombospondin type 1 motif, 19
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,545,357...54,729,184
Ensembl chr18:52,347,428...52,530,509
G
Adgrv1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:11,331,442...11,911,688
G
Adrb2
adrenoceptor beta 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
G
Afap1l1
actin filament associated protein 1-like 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:55,183,786...55,244,174
Ensembl chr18:55,183,786...55,244,146
G
Aff4
ALF transcription elongation factor 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,998,319...38,080,580
Ensembl chr10:37,498,825...37,579,751
G
Aldh7a1
aldehyde dehydrogenase 7 family, member A1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,208,035...52,240,293
Ensembl chr18:50,009,934...50,042,193
G
Ankhd1
ankyrin repeat and KH domain containing 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,161,882...28,260,917
Ensembl chr18:28,162,311...28,268,024
G
Anxa6
annexin A6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,602,106...39,657,183
Ensembl chr10:39,097,109...39,156,433
G
Ap3s1
adaptor related protein complex 3 subunit sigma 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,649,321...41,718,221
Ensembl chr18:39,462,765...39,531,622
G
Apbb3
amyloid beta precursor protein binding family B member 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,547,205...28,554,383
Ensembl chr18:28,270,545...28,280,094
G
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
OMIM ClinVar
PMID:186122 PMID:814096 PMID:950360 PMID:1316610 PMID:1317264 PMID:1319115 PMID:1319838 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1651174 PMID:1651563 PMID:1678319 PMID:1843350 PMID:1944466 PMID:2022303 PMID:2068566 PMID:2068568 PMID:2164769 PMID:2472832 PMID:2478327 PMID:2996804 PMID:3193653 PMID:7306523 PMID:7485167 PMID:7490101 PMID:7524601 PMID:7562975 PMID:7661930 PMID:7746201 PMID:7797123 PMID:7833149 PMID:7833931 PMID:7833936 PMID:7853377 PMID:7951218 PMID:7959691 PMID:7981688 PMID:8019566 PMID:8020934 PMID:8103406 PMID:8111410 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8252630 PMID:8252631 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8390900 PMID:8395941 PMID:8544194 PMID:8594558 PMID:8625067 PMID:8730280 PMID:8834176 PMID:8835324 PMID:8844222 PMID:8888441 PMID:8910893 PMID:8931709 PMID:8940262 PMID:8940264 PMID:8941012 PMID:8956059 PMID:8968744 PMID:8990002 PMID:9067764 PMID:9101302 PMID:9288102 PMID:9298819 PMID:9341879 PMID:9342373 PMID:9375853 PMID:9382065 PMID:9452101 PMID:9487968 PMID:9494520 PMID:9536098 PMID:9585599 PMID:9585611 PMID:9603437 PMID:9664575 PMID:9669663 PMID:9703421 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9765274 PMID:9824584 PMID:9831355 PMID:9843214 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10077047 PMID:10083733 PMID:10090483 PMID:10094547 PMID:10439961 PMID:10454823 PMID:10470088 PMID:10494086 PMID:10562580 PMID:10598803 PMID:10612827 PMID:10634400 PMID:10646887 PMID:10666372 PMID:10669993 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10768871 PMID:10811618 PMID:10830991 PMID:10923044 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11159880 PMID:11207040 PMID:11221825 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11267860 PMID:11317365 PMID:11354631 PMID:11355315 PMID:11466687 PMID:11551102 PMID:11559652 PMID:11606402 PMID:11668620 PMID:11677205 PMID:11707392 PMID:11720476 PMID:11741105 PMID:11748858 PMID:11754114 PMID:11768389 PMID:11818965 PMID:11819789 PMID:11823972 PMID:11839722 PMID:11852337 PMID:11896079 PMID:11904335 PMID:11933206 PMID:11950808 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12136240 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12486240 PMID:12494469 PMID:12503191 PMID:12527714 PMID:12533824 PMID:12537656 PMID:12581900 PMID:12621137 PMID:12702169 PMID:12721244 PMID:12894596 PMID:12901799 PMID:14514668 PMID:14522379 PMID:14523376 PMID:14574009 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14672538 PMID:14695993 PMID:14729851 PMID:14734220 PMID:14961559 PMID:14966376 PMID:14999774 PMID:15024739 PMID:15095859 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15131404 PMID:15133491 PMID:15266213 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15446460 PMID:15459959 PMID:15654777 PMID:15689459 PMID:15712637 PMID:15771908 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:15952110 PMID:15986289 PMID:16088911 PMID:16106429 PMID:16110024 PMID:16111973 PMID:16134147 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16478792 PMID:16569251 PMID:16616356 PMID:16650078 PMID:16680592 PMID:16710723 PMID:16736293 PMID:16875934 PMID:16944273 PMID:17039269 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17169185 PMID:17293347 PMID:17410430 PMID:17411426 PMID:17426470 PMID:17486639 PMID:17489848 PMID:17556698 PMID:17568392 PMID:17576681 PMID:17604324 PMID:17665205 PMID:17726045 PMID:17785554 PMID:17854661 PMID:17881494 PMID:17920230 PMID:17963004 PMID:18063416 PMID:18155426 PMID:18166348 PMID:18199528 PMID:18224684 PMID:18343606 PMID:18369740 PMID:18387968 PMID:18393237 PMID:18406876 PMID:18433509 PMID:18487285 PMID:18587328 PMID:18612690 PMID:18629394 PMID:18770064 PMID:18794146 PMID:18844223 PMID:18982352 PMID:19029688 PMID:19036155 PMID:19111562 PMID:19196998 PMID:19279422 PMID:19307944 PMID:19331226 PMID:19336753 PMID:19347965 PMID:19409520 PMID:19444466 PMID:19474113 PMID:19506109 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19763152 PMID:19768578 PMID:19793053 PMID:19995397 PMID:20007843 PMID:20033787 PMID:20223039 PMID:20232483 PMID:20233475 PMID:20301519 PMID:20307669 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20564245 PMID:20579941 PMID:20649969 PMID:20682701 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21078199 PMID:21110124 PMID:21142386 PMID:21153778 PMID:21157497 PMID:21255554 PMID:21315632 PMID:21476993 PMID:21520333 PMID:21533174 PMID:21598003 PMID:21643010 PMID:21646762 PMID:21653199 PMID:21779980 PMID:21813476 PMID:21858148 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21909382 PMID:21970370 PMID:21995949 PMID:22000517 PMID:22027476 PMID:22135120 PMID:22150579 PMID:22164339 PMID:22395475 PMID:22406018 PMID:22425061 PMID:22431159 PMID:22434720 PMID:22447671 PMID:22585170 PMID:22608206 PMID:22645652 PMID:22669205 PMID:22675565 PMID:22703879 PMID:22722829 PMID:22722839 PMID:22773231 PMID:22790147 PMID:22799487 PMID:22809634 PMID:22809968 PMID:22851115 PMID:22863191 PMID:22864254 PMID:22864938 PMID:22875147 PMID:22895193 PMID:22941256 PMID:22976915 PMID:22987206 PMID:22995991 PMID:23054214 PMID:23085758 PMID:23116752 PMID:23159591 PMID:23185543 PMID:23244118 PMID:23274167 PMID:23292937 PMID:23348723 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23575299 PMID:23576677 PMID:23585368 PMID:23709753 PMID:23715166 PMID:23725351 PMID:23757202 PMID:23771323 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24082139 PMID:24123366 PMID:24142997 PMID:24233542 PMID:24310308 PMID:24326041 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24506336 PMID:24518971 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24618431 PMID:24651015 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24750145 PMID:24755471 PMID:24763289 PMID:24770791 PMID:24790607 PMID:24841357 PMID:24861525 PMID:24946964 PMID:25085752 PMID:25142776 PMID:25148578 PMID:25157968 PMID:25159889 PMID:25159915 PMID:25178641 PMID:25183641 PMID:25186627 PMID:25203624 PMID:25231023 PMID:25243319 PMID:25256751 PMID:25257991 PMID:25318351 PMID:25326637 PMID:25338684 PMID:25356985 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25640679 PMID:25665006 PMID:25676610 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25742471 PMID:25778705 PMID:25801821 PMID:25815427 PMID:25819062 PMID:25832318 PMID:25882375 PMID:25925381 PMID:25938944 PMID:25941542 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26000489 PMID:26023681 PMID:26138249 PMID:26161710 PMID:26163615 PMID:26173098 PMID:26178707 PMID:26187149 PMID:26207792 PMID:26252958 PMID:26300997 PMID:26309368 PMID:26314409 PMID:26320869 PMID:26332594 PMID:26336887 PMID:26338694 PMID:26373296 PMID:26373574 PMID:26378065 PMID:26394139 PMID:26414517 PMID:26416840 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26480326 PMID:26486734 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26511139 PMID:26517685 PMID:26530882 PMID:26556299 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26643872 PMID:26650777 PMID:26667234 PMID:26681312 PMID:26684191 PMID:26690363 PMID:26692440 PMID:26787237 PMID:26819281 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26862949 PMID:26900293 PMID:26917275 PMID:26933808 PMID:26934580 PMID:26976419 PMID:27000756 PMID:27009842 PMID:27028212 PMID:27077911 PMID:27081525 PMID:27087319 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27158207 PMID:27217144 PMID:27282352 PMID:27284491 PMID:27302369 PMID:27311873 PMID:27329244 PMID:27343414 PMID:27347161 PMID:27354939 PMID:27391059 PMID:27425854 PMID:27435373 PMID:27443514 PMID:27449473 PMID:27449771 PMID:27498913 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27621404 PMID:27623068 PMID:27647783 PMID:27683109 PMID:27684187 PMID:27696107 PMID:27705013 PMID:27717299 PMID:27760322 PMID:27777639 PMID:27806309 PMID:27852271 PMID:27878467 PMID:27882345 PMID:27930734 PMID:27978560 PMID:28002797 PMID:28050010 PMID:28051113 PMID:28057616 PMID:28125075 PMID:28127413 PMID:28135048 PMID:28135136 PMID:28135145 PMID:28152038 PMID:28157215 PMID:28185118 PMID:28195393 PMID:28195569 PMID:28196074 PMID:28202063 PMID:28251689 PMID:28259476 PMID:28283864 PMID:28301460 PMID:28380452 PMID:28413499 PMID:28423518 PMID:28481359 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28524162 PMID:28526081 PMID:28528518 PMID:28533537 PMID:28548127 PMID:28569743 PMID:28576136 PMID:28595259 PMID:28608266 PMID:28640387 PMID:28642281 PMID:28663347 PMID:28706299 PMID:28717660 PMID:28726808 PMID:28744403 PMID:28749474 PMID:28805986 PMID:28828701 PMID:28840378 PMID:28859360 PMID:28873162 PMID:28891274 PMID:28944238 PMID:28975465 PMID:29029407 PMID:29050249 PMID:29069792 PMID:29109117 PMID:29112017 PMID:29122597 PMID:29141224 PMID:29141268 PMID:29150975 PMID:29192238 PMID:29212164 PMID:29237405 PMID:29237421 PMID:29245953 PMID:29251405 PMID:29338072 PMID:29338689 PMID:29351919 PMID:29360161 PMID:29367705 PMID:29368261 PMID:29368341 PMID:29371908 PMID:29386312 PMID:29406563 PMID:29419868 PMID:29458332 PMID:29478780 PMID:29487696 PMID:29489754 PMID:29506128 PMID:29510987 PMID:29517769 PMID:29518763 PMID:29535845 PMID:29562902 PMID:29570743 PMID:29596542 PMID:29620724 PMID:29625052 PMID:29641532 PMID:29683816 PMID:29684080 PMID:29696324 PMID:29710228 PMID:29723602 PMID:29748005 PMID:29752822 PMID:29753700 PMID:29754767 PMID:29868112 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29954149 PMID:29961768 PMID:29968043 PMID:29978187 PMID:29987844 PMID:30006736 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30102335 PMID:30111351 PMID:30113427 PMID:30122538 PMID:30148152 PMID:30152102 PMID:30171174 PMID:30239046 PMID:30252101 PMID:30256815 PMID:30256826 PMID:30257133 PMID:30262796 PMID:30267214 PMID:30272267 PMID:30274973 PMID:30279230 PMID:30287922 PMID:30306255 PMID:30324682 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30487145 PMID:30523670 PMID:30569724 PMID:30580288 PMID:30613976 PMID:30620386 PMID:30666417 PMID:30680046 PMID:30696621 PMID:30705875 PMID:30720243 PMID:30809968 PMID:30814645 PMID:30833958 PMID:30852976 PMID:30877237 PMID:30897307 PMID:30980208 PMID:30981987 PMID:31019283 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31118792 PMID:31127692 PMID:31131953 PMID:31133068 PMID:31159747 PMID:31175917 PMID:31186761 PMID:31240473 PMID:31269945 PMID:31273614 PMID:31278746 PMID:31283021 PMID:31285513 PMID:31360874 PMID:31372739 PMID:31403082 PMID:31409086 PMID:31422818 PMID:31428572 PMID:31444830 PMID:31447099 PMID:31465090 PMID:31469036 PMID:31486992 PMID:31504825 PMID:31520998 PMID:31543384 PMID:31547467 PMID:31552911 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31645765 PMID:31702654 PMID:31703593 PMID:31744909 PMID:31765737 PMID:31780696 PMID:31802619 PMID:31854063 PMID:31874108 PMID:31921681 PMID:31925297 PMID:31937788 PMID:31942411 PMID:31970404 PMID:32067438 PMID:32068069 PMID:32070411 PMID:32088909 PMID:32091409 PMID:32123317 PMID:32187665 PMID:32251017 PMID:32255556 PMID:32256484 PMID:32268276 PMID:32281046 PMID:32283892 PMID:32369273 PMID:32390703 PMID:32504335 PMID:32543103 PMID:32543227 PMID:32547059 PMID:32547938 PMID:32552793 PMID:32590455 PMID:32635641 PMID:32658311 PMID:32720237 PMID:32720330 PMID:32751567 PMID:32754865 PMID:32829589 PMID:32854451 PMID:32860008 PMID:32885271 PMID:32913981 PMID:32957588 PMID:32980694 PMID:32984025 PMID:32992489 PMID:32994724 PMID:32999869 PMID:33009979 PMID:33011440 PMID:33042626 PMID:33087929 PMID:33094510 PMID:33134403 PMID:33193653 PMID:33242120 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33332384 PMID:33352971 PMID:33359728 PMID:33436027 PMID:33503190 PMID:33525650 PMID:33558524 PMID:33569305 PMID:33606809 PMID:33646313 PMID:33670833 PMID:33753878 PMID:33769591 PMID:33773808 PMID:33788735 PMID:33821390 PMID:33875564 PMID:33977078 PMID:34034685 PMID:34106356 PMID:34150014 PMID:34224960 PMID:34250417 PMID:34259353 PMID:34271781 PMID:34301788 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34388351 PMID:34426522 PMID:34479915 PMID:34545850 PMID:34646395 PMID:34654685 PMID:34666312 PMID:34707284 PMID:34754157 PMID:34771502 PMID:34855061 PMID:34897210 PMID:34921310 PMID:35014770 PMID:35070997 PMID:35098669 PMID:35128723 PMID:35142982 PMID:35189564 PMID:35205366 PMID:35260767 PMID:35264596 PMID:35296888 PMID:35307764 PMID:35418818 PMID:35430768 PMID:35467778 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35586626 PMID:35966080 PMID:35979026 PMID:35980532 PMID:36008414 PMID:36084716 PMID:36097219 PMID:36225625 PMID:36243179 PMID:36315513 PMID:36356413 PMID:36586069 PMID:36672847 PMID:36807005 PMID:36896836 PMID:36898365 PMID:36900197 PMID:36901686 PMID:36988593 PMID:37038467 PMID:37149903 PMID:37306523 PMID:37542411 PMID:37577746 PMID:37591896 PMID:37800450 PMID:37894428 PMID:37937776 PMID:37943618 PMID:38054408 PMID:38136308 PMID:38282550 PMID:38359148 PMID:38504345 PMID:38564685 PMID:38849509 PMID:38874686 PMID:38898987 PMID:39042403 PMID:39046601 PMID:39284955 PMID:39357517 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
Arap3
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,806,214...29,834,217
Ensembl chr18:29,807,536...29,833,555
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Arb2a
ARB2 cotranscriptional regulator A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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Arhgap26
Rho GTPase activating protein 26
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,702,602...31,489,047
Ensembl chr18:30,838,671...31,235,194
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Arhgef37
Rho guanine nucleotide exchange factor 37
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,935,256...55,001,017
Ensembl chr18:54,949,110...55,000,669
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Arl14epl
ARF like GTPase 14 effector protein like
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:39,679,877...39,711,929
Ensembl chr18:39,679,884...39,710,862
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Arrdc3
arrestin domain containing 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:12,873,202...12,885,716
Ensembl chr 2:11,137,460...11,149,978
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Arsi
arylsulfatase family, member I
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,634,556...56,642,168
Ensembl chr18:54,364,088...54,371,767
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Arsk
arylsulfatase family, member K
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:7,306,181...7,363,311
Ensembl chr 2:5,574,322...5,631,467
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Atg12
autophagy related 12
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,638,841...41,649,311
Ensembl chr18:39,452,191...39,462,418
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Atox1
antioxidant 1 copper chaperone
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:40,065,525...40,080,627
Ensembl chr10:39,564,857...39,579,950
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Brd8
bromodomain containing 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,455,824...26,504,106
Ensembl chr18:26,181,732...26,229,884
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C10h5orf15
similar to human chromosome 5 open reading frame 15
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,563,989...36,576,593
Ensembl chr10:36,563,958...36,576,590
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C17h5orf24
similar to human chromosome 5 open reading frame 24
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,923,041...8,932,958
Ensembl chr17:8,922,675...8,933,356
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C18h5orf46
similar to human chromosome 5 open reading frame 46
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:35,948,402...35,969,502
Ensembl chr18:35,948,402...35,969,502
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C18h5orf63
similar to human chromosome 5 open reading frame 63
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:50,424,079...50,442,172
Ensembl chr18:50,424,079...50,441,973
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Camk2a
calcium/calmodulin-dependent protein kinase II alpha
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,648,779...56,711,505
Ensembl chr18:54,378,784...54,438,994
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Camk4
calcium/calmodulin-dependent protein kinase IV
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:24,857,152...25,076,054
Ensembl chr18:24,585,269...24,802,487
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Camlg
calcium modulating ligand
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,997,868...9,009,140
Ensembl chr17:8,992,696...9,003,552
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Cast
calpastatin
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659
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Catsper3
cation channel, sperm associated 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,820,738...8,846,063
Ensembl chr17:8,815,561...8,840,864
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Ccdc112
coiled-coil domain containing 112
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:38,998,139...39,032,329
Ensembl chr18:38,998,139...39,032,329
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Ccdc69
coiled-coil domain containing 69
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,173,282...39,200,358
Ensembl chr10:39,173,282...39,199,878
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819
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Cd14
CD14 molecule
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
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Cd74
CD74 molecule
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,527,071...56,536,406
Ensembl chr18:54,256,778...54,266,003
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Cdc23
cell division cycle 23
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,511,019...26,534,872
Ensembl chr18:26,236,890...26,291,163
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Cdc25c
cell division cycle 25C
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,335,834...26,356,185
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Cdc42se2
CDC42 small effector 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,337,269...39,405,772
Ensembl chr10:38,836,555...38,905,059 Ensembl chr 1:38,836,555...38,905,059
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Cdkl3
cyclin-dependent kinase-like 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,263,212...36,349,268
Ensembl chr10:36,266,977...36,349,268
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Cdkn2aipnl
CDKN2A interacting protein N-terminal like
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,231,134...36,240,569
Ensembl chr10:36,231,087...36,240,564
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Cdo1
cysteine dioxygenase type 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,619,076...41,633,719
Ensembl chr18:39,432,474...39,447,296
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Cdx1
caudal type homeo box 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,742,970...56,761,299
Ensembl chr18:54,473,444...54,490,814
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Cep120
centrosomal protein 120
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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Cetn3
centrin 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:12,089,025...12,101,828
Ensembl chr 2:12,089,226...12,101,828
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Chd1
chromodomain helicase DNA binding protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 1:65,334,905...65,402,270
Ensembl chr 1:56,664,054...56,728,125
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Chsy3
chondroitin sulfate synthase 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,644,356...52,901,257
Ensembl chr18:52,644,461...52,898,098
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Commd10
COMM domain containing 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:39,741,219...39,874,801
Ensembl chr18:39,741,298...39,874,903
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Csf1r
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Csf2
colony stimulating factor 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199
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Csnk1a1
casein kinase 1, alpha 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,285,156...57,320,540
Ensembl chr18:55,017,055...55,049,271
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Csnk1g3
casein kinase 1, gamma 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:49,497,839...49,584,828
Ensembl chr18:47,299,579...47,386,535
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Ctnna1
catenin alpha 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910
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Ctxn3
cortexin 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:50,930,244...50,940,642
Ensembl chr18:50,930,235...50,940,641
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Cxcl14
C-X-C motif chemokine ligand 14
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,323,150...8,331,176
Ensembl chr17:8,317,933...8,324,839
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Cxxc5
CXXC finger protein 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,427,591...27,458,579
Ensembl chr18:27,427,230...27,458,673
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Cystm1
cysteine-rich transmembrane module containing 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,945,862...28,013,509
Ensembl chr18:27,951,653...28,013,510
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Dcp2
decapping mRNA 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:11257105 PMID:14672538 PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:37,001,615...37,037,949
Ensembl chr18:36,750,732...36,788,557
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Dctn4
dynactin subunit 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
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Ddx46
DEAD-box helicase 46
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,947,237...8,993,705
Ensembl chr17:8,944,454...8,988,439
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Dele1
DAP3 binding cell death enhancer 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,325,369...30,349,285
Ensembl chr18:30,085,126...30,098,756
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Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,669,659...29,769,172
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Dmxl1
Dmx-like 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:45,179,505...45,349,999
Ensembl chr18:42,993,340...43,163,456
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Dnajc18
DnaJ heat shock protein family (Hsp40) member C18
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,269,350...27,303,453
Ensembl chr18:27,269,355...27,298,344
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Dnd1
DND microRNA-mediated repression inhibitor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316
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Dpysl3
dihydropyrimidinase-like 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:35,625,357...35,731,152
Ensembl chr18:35,377,181...35,480,157
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Dtwd2
DTW domain containing 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:42,811,783...42,902,040
Ensembl chr18:42,816,681...42,901,832
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Ecscr
endothelial cell surface expressed chemotaxis and apoptosis regulator
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,583,791...27,593,184
Ensembl chr18:27,309,718...27,319,032
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Efna5
ephrin A5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:109,763,786...110,042,396
Ensembl chr 9:102,320,295...102,597,413
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Egr1
early growth response 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Eif4ebp3
eukaryotic translation initiation factor 4E binding protein 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,540,324...28,542,070
Ensembl chr18:28,162,311...28,268,024
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Ell2
elongation factor for RNA polymerase II 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:6,910,446...6,990,654
Ensembl chr 2:5,189,971...5,258,781
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Epb41l4a
erythrocyte membrane protein band 4.1 like 4A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:25,680,169...25,890,998
Ensembl chr18:25,406,057...25,615,149
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447
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Etf1
eukaryotic translation termination factor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,776,518...26,804,857
Ensembl chr18:26,504,080...26,530,810
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Fam114a2
family with sequence similarity 114, member A2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:41,661,787...41,696,790
Ensembl chr10:41,661,787...41,696,741
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Fam13b
family with sequence similarity 13, member B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,040,285...26,107,112
Ensembl chr18:26,040,285...26,106,587
G
Fam170a
family with sequence similarity 170, member A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:43,521,304...43,526,035
Ensembl chr18:43,521,300...43,526,036
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Fam174a
family with sequence similarity 174, member A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:95,742,815...95,761,083
Ensembl chr 9:95,742,927...95,761,081
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Fam53c
family with sequence similarity 53, member C
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,364,050...26,378,173
Ensembl chr18:26,364,039...26,376,775
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Fam81b
family with sequence similarity 81, member B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:5,750,678...5,870,580
Ensembl chr 2:5,771,240...5,879,440
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Fat2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,864,765...39,957,027
Ensembl chr10:39,364,073...39,456,216
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976
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Fbxl17
F-box and leucine-rich repeat protein 17
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:110,227,609...110,666,184
Ensembl chr 9:102,782,440...103,208,950
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Fbxo38
F-box protein 38
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:58,227,253...58,274,320
Ensembl chr18:55,956,959...56,003,961
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Fchsd1
FCH and double SH3 domains 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,793,899...29,804,533
Ensembl chr18:29,793,899...29,804,466
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Fem1c
fem-1 homolog C
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,419,511...41,445,300
Ensembl chr18:39,232,900...39,258,692
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Fer
FER tyrosine kinase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:110,967,317...111,274,315
Ensembl chr 9:103,520,493...103,821,451
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Fgf1
fibroblast growth factor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357
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Fnip1
folliculin interacting protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,068,432...39,151,552
Ensembl chr10:38,567,729...38,650,824
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Fstl4
follistatin-like 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,412,288...37,845,405
Ensembl chr10:36,911,420...37,338,588
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Ftmt
ferritin mitochondrial
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:45,758,874...45,760,123
Ensembl chr18:45,758,874...45,760,123
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G3bp1
G3BP stress granule assembly factor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:40,087,533...40,120,931
Ensembl chr10:39,586,864...39,620,268
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Galnt10
polypeptide N-acetylgalactosaminyltransferase 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:42,321,691...42,468,087
Ensembl chr10:41,820,158...41,967,013
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Gdf9
growth differentiation factor 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,090,021...38,100,801
Ensembl chr10:37,595,679...37,599,672
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Gfra3
GDNF family receptor alpha 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,297,828...26,326,105
Ensembl chr18:26,297,829...26,326,105
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Gin1
gypsy retrotransposon integrase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:98,293,596...98,315,155
Ensembl chr 9:98,293,597...98,315,848
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Glra1
glycine receptor, alpha 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:40,128,284...40,228,612
Ensembl chr10:39,629,459...39,727,162
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Glrx
glutaredoxin
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:7,073,737...7,083,548
Ensembl chr 2:5,341,885...5,351,680
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Gm2a
ganglioside GM2 activator
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,219,243...39,231,757
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Gnpda1
glucosamine-6-phosphate deaminase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,165,435...30,177,462
Ensembl chr18:30,165,427...30,177,486
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Gpr150
G protein-coupled receptor 150
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:5,546,304...5,550,889
Ensembl chr 2:5,548,578...5,550,714
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Gpr151
G protein-coupled receptor 151
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,568,907...34,570,301
Ensembl chr18:34,568,907...34,570,301
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Gpx3
glutathione peroxidase 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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Gramd2b
GRAM domain containing 2B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,082,128...52,180,056
Ensembl chr18:49,884,014...49,981,953
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:41,710,540...42,030,105
Ensembl chr10:41,210,713...41,527,283
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Grpel2
GrpE-like 2, mitochondrial
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,438,168...57,450,408
Ensembl chr18:55,168,209...55,180,180
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Grxcr2
glutaredoxin and cysteine rich domain containing 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,235,734...34,249,139
Ensembl chr18:33,984,689...33,998,094
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Hand1
heart and neural crest derivatives expressed 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:42,507,117...42,509,684
Ensembl chr10:42,006,651...42,009,213
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Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740
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Hars2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Hbegf
heparin-binding EGF-like growth factor
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,380,337...28,390,220
Ensembl chr18:28,105,760...28,116,441
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Hdac3
histone deacetylase 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,021,847...30,041,061
Ensembl chr18:29,770,636...29,793,856
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Hint1
histidine triad nucleotide binding protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,490,225...39,493,970
Ensembl chr 4:92,100,973...92,101,568
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Hmgxb3
HMG-box containing 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,590,558...54,638,050
Ensembl chr18:54,590,560...54,638,155
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Hnrnpa0
heterogeneous nuclear ribonucleoprotein A0
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:6,513,129...6,515,786
Ensembl chr17:6,507,275...6,509,375
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:45,515,427...45,604,467
Ensembl chr18:43,328,824...43,417,952
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Hspa4
heat shock protein family A (Hsp70) member 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292
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Htr4
5-hydroxytryptamine receptor 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:58,036,277...58,221,327
Ensembl chr18:55,766,725...55,949,321
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Igip
IgA-inducing protein
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,904,018...27,905,509
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Ik
IK cytokine
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,632,025...28,646,829
Ensembl chr18:28,357,977...28,378,832
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Il13
interleukin 13
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il17b
interleukin 17B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:55,141,194...55,145,565
Ensembl chr18:55,141,194...55,145,565
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Il3
interleukin 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066
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Il4
interleukin 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Il5
interleukin 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213
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Il9
interleukin 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,117,028...8,120,151
Ensembl chr17:8,111,772...8,114,895
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Irf1
interferon regulatory factor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:37,916,670...37,924,166
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Irgm
immunity-related GTPase M
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:33,734,640...33,742,720
Ensembl chr10:33,233,455...33,241,578
G
Isoc1
isochorismatase domain containing 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,158,790...52,179,206
Ensembl chr18:52,158,790...52,178,703
G
Jade2
jade family PHD finger 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,576,187...36,625,129
Ensembl chr10:36,078,917...36,116,984
G
Jakmip2
janus kinase and microtubule interacting protein 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:35,783,472...35,998,849
Ensembl chr18:35,532,552...35,747,775
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Kcnn2
potassium calcium-activated channel subfamily N member 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:40,004,693...40,445,043
Ensembl chr18:37,817,957...38,258,347
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Kctd16
potassium channel tetramerization domain containing 16
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:32,417,306...32,711,928
Ensembl chr18:32,166,861...32,491,749
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Kdm3b
lysine demethylase 3B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,655,004...26,710,814
Ensembl chr18:26,380,964...26,436,628
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Kiaa0825
KIAA0825 homolog
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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Kif20a
kinesin family member 20A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,504,422...26,512,908
Ensembl chr18:26,230,230...26,238,780
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Kif3a
kinesin family member 3a
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,226,388...38,263,062
Ensembl chr10:37,725,970...37,759,191
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Klhl3
kelch-like family member 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:6,528,114...6,651,338
Ensembl chr17:6,521,912...6,642,154
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Lars1
leucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,452,567...34,507,030
Ensembl chr18:34,201,549...34,255,931
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Leap2
liver enriched antimicrobial peptide 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,081,001...38,082,073
Ensembl chr10:37,577,855...37,581,244
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Lect2
leukocyte cell-derived chemotaxin 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,050,034...8,056,256
Ensembl chr17:8,044,759...8,050,983
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Lix1
limb and CNS expressed 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 1:66,802,044...66,859,040
Ensembl chr 1:58,128,961...58,185,964
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Lmnb1
lamin B1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,373,939...52,413,284
Ensembl chr18:50,175,874...50,214,502
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Lnpep
leucyl and cystinyl aminopeptidase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 1:66,931,712...67,027,610
Ensembl chr 1:58,258,642...58,354,544
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Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:48,162,889...48,175,640
Ensembl chr18:45,967,343...46,041,477
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Lrrtm2
leucine rich repeat transmembrane neuronal 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,091,919...27,096,967
Ensembl chr18:26,817,816...26,822,864
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Lvrn
laeverin
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,752,788...41,861,830
Ensembl chr18:39,607,722...39,675,165
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Lyrm7
LYR motif containing 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,465,019...39,483,973
Ensembl chr10:38,964,311...38,983,601
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Lysmd3
LysM domain containing 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:11,933,787...11,939,944
Ensembl chr 2:11,933,768...11,942,961
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Macir
macrophage immunometabolism regulator
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:105,868,072...105,888,128
Ensembl chr 9:98,420,376...98,441,733
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Macroh2a1
macroH2A.1 histone
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,484,340...8,547,268
Ensembl chr17:8,479,372...8,542,072
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Man2a1
mannosidase, alpha, class 2A, member 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:111,698,913...111,855,257
Ensembl chr 9:104,252,001...104,408,349
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Marchf3
membrane associated ring-CH-type finger 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:50,237,218...50,389,343
Ensembl chr18:50,237,230...50,389,150
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Matr3
matrin 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,163,714...27,193,166
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Mblac2
metallo-beta-lactamase domain containing 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:11,986,075...12,028,882
Ensembl chr 2:11,986,027...12,030,950
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Mcc
MCC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,794,206...37,266,237
Ensembl chr18:36,798,372...37,266,819
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Mctp1
multiple C2 and transmembrane domain containing 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:7,798,968...8,493,596
Ensembl chr 2:6,065,808...6,761,833
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Mef2c
myocyte enhancer factor 2C
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:13,993,438...14,132,880
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Megf10
multiple EGF-like domains 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,803,292...52,953,431
Ensembl chr18:50,605,656...50,754,456
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Mfap3
microfibril associated protein 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:41,696,788...41,711,490
Ensembl chr10:41,696,771...41,710,406
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Minar2
membrane integral NOTCH2 associated receptor 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,737,670...54,752,388
Ensembl chr18:52,539,917...52,554,461
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Mir143
microRNA 143
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,371,349...57,371,453
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:12606733 PMID:16287072 PMID:17161978 PMID:17581577 PMID:17949294 PMID:19725997 PMID:20618354 PMID:20725929 PMID:20848659 PMID:21195604 PMID:23383274 PMID:24033266 PMID:25186627 PMID:25569433 PMID:25741868 PMID:25820570 PMID:26377631 PMID:26467025 PMID:27153395 PMID:27705013 PMID:27829682 PMID:28135145 PMID:28199314 PMID:28492532 PMID:28944238 PMID:29368341 PMID:30333958 PMID:30680046 PMID:31159747 PMID:31214250 PMID:31285513 PMID:32255556 PMID:32980694 PMID:35980532 More...
NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
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Myot
myotilin
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,705,314...36,724,841
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Myoz3
myozenin 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,026,133...54,046,151
Ensembl chr18:54,026,152...54,102,126
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Mzb1
marginal zone B and B1 cell-specific protein
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,513,087...27,515,148
Ensembl chr18:27,239,001...27,241,094
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Ndfip1
Nedd4 family interacting protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,516,931...30,567,199
Ensembl chr18:30,250,613...30,322,311
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,407,308...56,470,007
Ensembl chr18:54,140,779...54,178,191
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Ndufa2
NADH:ubiquinone oxidoreductase subunit A2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,629,795...28,631,884
Ensembl chr18:28,355,774...28,358,076
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Neurog1
neurogenin 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,368,096...8,369,615
Ensembl chr17:8,362,821...8,364,571
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Nme5
NME/NM23 family member 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,437,705...26,454,828
Ensembl chr18:26,163,555...26,180,794
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Nmur2
neuromedin U receptor 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:40,666,824...40,682,679
Ensembl chr10:40,166,226...40,182,078
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Nr2f1
nuclear receptor subfamily 2, group F, member 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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Nrep
neuronal regeneration related protein
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:25,291,219...25,320,742
Ensembl chr18:25,017,083...25,046,591
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Nrg2
neuregulin 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,890,578...28,072,538
Ensembl chr18:27,619,661...27,798,505
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Nthl1
nth-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:32239880 PMID:33980861 PMID:34367820
NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957
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Nudt12
nudix hydrolase 12
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:98,741,627...98,755,039
Ensembl chr 9:98,742,360...98,755,039
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P4ha2
prolyl 4-hydroxylase subunit alpha 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,743,894...38,772,741
Ensembl chr10:38,243,139...38,287,314
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Paip2
poly(A) binding protein interacting protein 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,475,278...27,492,452
Ensembl chr18:27,199,796...27,214,863 Ensembl chr 1:27,199,796...27,214,863
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Pam
peptidylglycine alpha-amidating monooxygenase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:105,445,812...105,719,287
Ensembl chr 9:98,122,916...98,271,965
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Pcbd2
pterin-4 alpha-carbinolamine dehydratase 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,850,349...8,902,420
Ensembl chr17:8,845,084...8,910,539
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Pcdh1
protocadherin 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,258,154...30,290,828
Ensembl chr18:30,013,185...30,039,318
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Pcdh12
protocadherin 12
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,354,910...30,370,485
Ensembl chr18:30,103,728...30,119,307
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Pcdha1
protocadherin alpha 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdha10
protocadherin alpha 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
G
Pcdha11
protocadherin alpha 11
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
G
Pcdha12
protocadherin alpha 12
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
G
Pcdha13
protocadherin alpha 13
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
G
Pcdha2
protocadherin alpha 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
G
Pcdha3
protocadherin alpha 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
G
Pcdha4
protocadherin alpha 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,688,274...29,120,227
Ensembl chr18:28,581,225...28,846,211
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Pcdha5
protocadherin alpha 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdha6
protocadherin alpha 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdha7
protocadherin alpha 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdha8
protocadherin alpha 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdha9
protocadherin alpha 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdhac1
protocadherin alpha subfamily C, 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdhac2
protocadherin alpha subfamily C, 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
Ensembl chr18:28,581,225...28,846,211
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Pcdhb1
protocadherin beta 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,187,848...29,190,759
Ensembl chr18:28,913,989...28,916,445
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Pcdhb13
protocadherin beta 13
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,420,029...29,423,883
Ensembl chr18:29,146,313...29,148,703
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Pcdhb15
protocadherin beta 15
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,454,334...29,457,872
Ensembl chr18:29,181,052...29,183,804
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Pcdhb16
protocadherin beta 16
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,466,270...29,469,679
Ensembl chr18:29,192,124...29,200,539
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Pcdhb19
protocadherin beta 19
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,204,838...29,207,646
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Pcdhb2
protocadherin beta 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,280,004...29,282,790
Ensembl chr18:29,005,996...29,008,782
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Pcdhb20
protocadherin beta 20
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,485,888...29,489,282
Ensembl chr18:29,211,883...29,215,258
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Pcdhb21
protocadherin beta 21
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,492,219...29,495,152
Ensembl chr18:29,218,225...29,221,142
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Pcdhb22
protocadherin beta 22
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,497,038...29,503,142
Ensembl chr18:29,223,149...29,225,536
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Pcdhb3
protocadherin beta 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,285,675...29,288,229
Ensembl chr18:29,011,816...29,015,188
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Pcdhb5
protocadherin beta 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,302,466...29,305,048
Ensembl chr18:29,028,382...29,053,259
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Pcdhb8
protocadherin beta 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,339,476...29,341,815
Ensembl chr18:29,065,466...29,067,805
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Pcdhga1
protocadherin gamma subfamily A, 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,738,639...29,919,095
Ensembl chr18:29,487,482...29,492,857 Ensembl chr18:29,487,482...29,492,857
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Pcdhga10
protocadherin gamma subfamily A, 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,825,926...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga11
protocadherin gamma subfamily A, 11
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,834,606...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga12
protocadherin gamma subfamily A, 12
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,843,897...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga2
protocadherin gamma subfamily A, 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,745,189...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga3
protocadherin gamma subfamily A, 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,750,383...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga4
protocadherin gamma subfamily A, 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,760,777...29,794,877
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Pcdhga5
protocadherin gamma subfamily A, 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,770,940...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga7
protocadherin gamma subfamily A, 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,794,252...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga8
protocadherin gamma subfamily A, 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,805,113...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhga9
protocadherin gamma subfamily A, 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,564,614...29,667,865
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Pcdhgb1
protocadherin gamma subfamily B, 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,501,739...29,508,024
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Pcdhgb7
protocadherin gamma subfamily B, 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,830,362...29,919,098
Ensembl chr18:29,493,954...29,667,868
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Pcdhgb8
protocadherin gamma subfamily B, 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,839,560...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhgc3
protocadherin gamma subfamily C, 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,884,245...29,919,095
Ensembl chr18:29,493,954...29,667,868
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Pcdhgc5
protocadherin gamma subfamily C, 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,898,430...29,917,566
Ensembl chr18:29,493,954...29,667,868
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:4,395,543...4,442,434
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Pcyox1l
prenylcysteine oxidase 1 like
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,420,971...57,431,632
Ensembl chr18:55,150,650...55,161,327
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Pde6a
phosphodiesterase 6A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Pdlim4
PDZ and LIM domain 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,699,444...38,713,696
Ensembl chr10:38,198,689...38,212,938
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Pfdn1
prefoldin subunit 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,288,210...28,341,198
Ensembl chr18:28,014,145...28,067,064
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Pggt1b
protein geranylgeranyltransferase type I subunit beta
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,138,536...41,182,145
Ensembl chr18:38,952,914...38,995,503
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Phax
phosphorylated adaptor for RNA export
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823
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Pitx1
paired-like homeodomain 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,794,134...8,800,291
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Pja2
praja ring finger ubiquitin ligase 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:111,403,624...111,453,703
Ensembl chr 9:103,956,678...104,006,783
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Pkd2l2
polycystin 2 like 2, transient receptor potential cation channel
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428
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Plac8l1
PLAC8-like 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,167,667...34,192,137
Ensembl chr18:34,168,864...34,190,800
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Polr3g
RNA polymerase III subunit G
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:13,680,893...13,721,802
Ensembl chr 2:11,945,217...11,986,125
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Pou4f3
POU class 4 homeobox 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,641,191...34,643,783
Ensembl chr18:34,390,205...34,392,797
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Pou5f2
POU domain class 5, transcription factor 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:9,643,313...9,644,547
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Ppargc1b
PPARG coactivator 1 beta
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,029,264...57,131,466
Ensembl chr18:54,758,902...54,861,194
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Ppic
peptidylprolyl isomerase C
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:46,842,410...46,855,016
Ensembl chr18:46,842,409...46,855,017
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Ppip5k2
diphosphoinositol pentakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:105,727,906...105,838,159
Ensembl chr 9:98,315,252...98,390,814
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Ppp2ca
protein phosphatase 2 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,856,534...36,878,789
Ensembl chr10:36,358,101...36,377,862
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Ppp2r2b
protein phosphatase 2, regulatory subunit B, beta
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,904,686...35,357,299
Ensembl chr18:34,653,721...35,081,025
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Prdm6
PR/SET domain 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:49,102,290...49,206,763
Ensembl chr18:46,904,127...47,007,823
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Prelid2
PRELI domain containing 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:33,869,934...33,961,320
Ensembl chr18:33,873,599...33,961,225
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Prob1
proline-rich basic protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,242,511...27,247,355
Ensembl chr18:27,244,280...27,247,333
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Prr16
proline rich 16
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:44,424,348...44,764,796
Ensembl chr18:44,424,616...44,632,329
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Prrc1
proline-rich coiled-coil 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:50,812,548...50,846,273
Ensembl chr18:50,812,552...50,849,476
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Psd2
pleckstrin and Sec7 domain containing 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,565,587...27,616,672
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Pura
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,159,103...28,179,539
Ensembl chr18:27,884,556...27,905,513
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Rad50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,310,147...38,362,100
Ensembl chr10:37,808,726...37,861,396
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Rapgef6
Rap guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,156,573...39,324,947
Ensembl chr10:38,655,867...38,823,211
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Rbm22
RNA binding motif protein 22
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,283,807...56,294,615
Ensembl chr18:54,013,351...54,024,569
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Rbm27
RNA binding motif protein 27
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,273,527...34,336,124
Ensembl chr18:34,273,527...34,334,126
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Reep2
receptor accessory protein 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,712,236...26,721,275
Ensembl chr18:26,438,346...26,447,161
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Reep5
receptor accessory protein 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:11257105 PMID:12136240 PMID:14672538 PMID:15689459 PMID:17568392 PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,219,528...26,257,505
Ensembl chr18:25,945,381...25,976,509
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Rell2
RELT-like 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,789,996...29,793,986
Ensembl chr18:29,790,415...29,793,986
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Rfesd
Rieske (Fe-S) domain containing
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:5,495,067...5,521,095
Ensembl chr 2:5,505,756...5,522,449
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Rgmb
repulsive guidance molecule BMP co-receptor b
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 1:56,766,598...56,792,396
Ensembl chr 1:56,767,850...56,792,425
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Rhobtb3
Rho-related BTB domain containing 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:7,094,972...7,201,507
Ensembl chr 2:5,363,388...5,419,041
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Riok2
RIO kinase 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 1:66,776,215...66,792,480
Ensembl chr 1:58,103,084...58,120,512
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Rnf14
ring finger protein 14
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685
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Rps14
ribosomal protein S14
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
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Sap30l
SAP30-like
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:42,480,201...42,488,139
Ensembl chr10:41,979,687...41,987,658
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Sar1b
secretion associated, Ras related GTPase 1B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,525,365...36,555,009
Ensembl chr10:36,024,382...36,054,066
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Scgb3a2
secretoglobin, family 3A, member 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,183,745...36,186,667
Ensembl chr18:35,932,840...35,935,762
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Sec24a
SEC24 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,450,043...36,525,303
Ensembl chr10:35,947,031...36,024,353
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Sema6a
semaphorin 6A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:42,237,227...42,358,540
Ensembl chr18:40,050,624...40,171,954
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Septin8
septin 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,185,454...38,214,502
Ensembl chr10:37,684,639...37,713,174
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Sh3rf2
SH3 domain containing ring finger 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,296,753...34,397,880
Ensembl chr18:34,046,879...34,146,856
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:57,686,701...57,747,735
Ensembl chr18:55,416,413...55,483,083
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Shroom1
shroom family member 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,121,971...38,134,832
Ensembl chr10:37,621,723...37,631,256
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Sil1
SIL1 nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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Skic3
SKI3 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:7,363,417...7,526,351
Ensembl chr 2:5,631,635...5,751,626
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Skp1
S-phase kinase-associated protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,898,670...36,917,828
Ensembl chr10:36,402,153...36,417,388
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Slc12a2
solute carrier family 12 member 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:53,546,263...53,614,478
Ensembl chr18:51,348,302...51,416,440
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Slc22a4
solute carrier family 22 member 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,133,322...38,179,720
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Slc22a5
solute carrier family 22 member 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,008,311...38,035,309
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Slc23a1
solute carrier family 23 member 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
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Slc25a2
solute carrier family 25 member 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,704,182...29,707,563
Ensembl chr18:29,453,582...29,460,383
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Slc25a46
solute carrier family 25, member 46
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
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Slc25a48
solute carrier family 25, member 48
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,119,964...8,161,293
Ensembl chr17:8,121,175...8,160,748
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626
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Slc27a6
solute carrier family 27 member 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:54,238,697...54,297,595
Ensembl chr18:52,041,074...52,099,414
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Slc35a4
solute carrier family 35, member A4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,280,483...28,284,610
Ensembl chr18:28,279,750...28,284,725
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Slc36a1
solute carrier family 36 member 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217
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Slc36a2
solute carrier family 36 member 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,278,046...39,306,082
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Slc36a3
solute carrier family 36, member 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,243,595...39,270,567
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Slc4a9
solute carrier family 4 member 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,402,793...28,418,638
Ensembl chr18:28,128,740...28,141,543
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Slc6a7
solute carrier family 6 member 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,718,849...56,737,702
Ensembl chr18:54,448,464...54,467,319
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Slco4c1
solute carrier organic anion transporter family, member 4C1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:97,177,497...97,229,161
Ensembl chr 9:97,178,861...97,229,715
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Slco6b1
solute carrier organic anion transporter family member 6B1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:97,266,655...97,347,336
Ensembl chr 9:97,271,334...97,347,336
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Slf1
SMC5-SMC6 complex localization factor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:8,498,776...8,606,251
Ensembl chr 2:6,767,015...6,867,149
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Smad5
SMAD family member 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:7,867,640...7,896,983
Ensembl chr17:7,864,720...7,891,634
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Smim3
small integral membrane protein 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:53,930,019...53,982,339
Ensembl chr18:53,930,020...53,957,416
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Sncaip
synuclein, alpha interacting protein
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:48,402,164...48,542,246
Ensembl chr18:46,207,152...46,343,929
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Snx2
sorting nexin 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:46,602,223...46,643,870
Ensembl chr18:46,602,284...46,643,865
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Snx24
sorting nexin 24
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:48,869,804...49,024,352
Ensembl chr18:46,671,443...46,826,068
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Sowaha
sosondowah ankyrin repeat domain family member A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,641,823...37,645,390
Ensembl chr10:37,643,444...37,645,102
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Sparc
secreted protein acidic and cysteine rich
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
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Spata24
spermatogenesis associated 24
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124
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Spata9
spermatogenesis associated 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:5,465,573...5,504,048
Ensembl chr 2:5,465,575...5,503,538
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642
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Spink13
serine peptidase inhibitor Kazal type 13
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,064,839...56,206,257
Ensembl chr18:56,064,839...56,206,257
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Spink14
serine peptidase inhibitor, Kazal type 14
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,339,223...36,341,261
Ensembl chr18:36,339,223...36,342,144
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Spink5
serine peptidase inhibitor, Kazal type 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,515,347...36,584,038
Ensembl chr18:36,264,452...36,332,185
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Spink6
serine peptidase inhibitor, Kazal type 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,648,725...36,660,902
Ensembl chr18:36,397,910...36,409,819
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Spink7
serine peptidase inhibitor, Kazal type 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,045,996...56,049,761
Ensembl chr18:56,045,930...56,049,744
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Spink9
serine peptidase inhibitor, Kazal type 9
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:36,677,935...36,681,163
Ensembl chr18:36,426,989...36,430,271
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Spmip10
sperm microtubule inner protein 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:52,268,703...52,272,037
Ensembl chr18:50,070,610...50,073,942
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Spock1
sparc/osteonectin, cwcv and kazal like domains proteoglycan 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:6,746,892...7,227,034
Ensembl chr17:6,742,273...7,224,935
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Spry4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:30,687,633...30,702,546
Ensembl chr18:30,436,443...30,453,004
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Sra1
steroid receptor RNA activator 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,269,311...28,272,538
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Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:48,118,740...48,139,824
Ensembl chr18:45,920,446...45,942,515
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Srp19
signal recognition particle 19
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:11257105 PMID:12136240 PMID:14672538 PMID:15311282 PMID:15689459 PMID:17293347 PMID:17568392 PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:22135120 PMID:27081525 PMID:28492532 More...
NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
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St8sia4
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:103,437,479...103,532,008
Ensembl chr 9:95,993,503...96,084,653
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Stard4
StAR-related lipid transfer domain containing 4
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:25,088,831...25,104,172
Ensembl chr18:24,817,107...24,830,024
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,332,119...27,338,335
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:25741868
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Stk32a
serine/threonine kinase 32A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:35,258,865...35,374,985
Ensembl chr18:35,259,052...35,369,451
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Synpo
synaptopodin
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,326,369...56,347,359
Ensembl chr18:54,026,152...54,102,126
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Taf7
TATA-box binding protein associated factor 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:29,704,182...29,713,382
Ensembl chr18:29,452,943...29,462,134
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Tcerg1
transcription elongation regulator 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:34,756,558...34,817,441
Ensembl chr18:34,505,751...34,566,470
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Tcf7
transcription factor 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,924,363...36,954,279
Ensembl chr10:36,423,445...36,453,535
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Tcof1
treacle ribosome biogenesis factor 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:56,537,437...56,570,727
Ensembl chr18:54,267,026...54,300,324
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Tgfbi
transforming growth factor, beta induced
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:7,960,885...7,990,234
Ensembl chr17:7,955,603...7,985,240
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Ticam2
TIR domain containing adaptor molecule 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,481,057...41,498,065
Ensembl chr18:39,294,453...39,311,462
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Tifab
TIFA inhibitor
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,438,622...8,441,750
Ensembl chr17:8,431,635...8,436,592
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Tmco6
transmembrane and coiled-coil domains 6
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
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Tmed7
transmembrane p24 trafficking protein 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:41,505,167...41,512,243
Ensembl chr18:39,297,351...39,325,640
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Tmem161b
transmembrane protein 161B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 2:14,714,451...14,793,809
Ensembl chr 2:14,715,701...14,793,803
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Tmem232
transmembrane protein 232
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr 9:112,334,569...112,562,627
Ensembl chr 9:104,887,669...105,143,027
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Tnfaip8
TNF alpha induced protein 8
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:45,370,334...45,486,036
Ensembl chr18:43,183,916...43,299,517
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Tnip1
TNFAIP3 interacting protein 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625
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Trim36
tripartite motif-containing 36
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:38,859,604...38,912,859
Ensembl chr18:38,861,018...38,912,859
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Trpc7
transient receptor potential cation channel, subfamily C, member 7
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:7,708,911...7,833,435
Ensembl chr17:7,709,583...7,833,435
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Tslp
thymic stromal lymphopoietin
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,449,844...24,453,548
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Tssk1b
testis-specific serine kinase 1B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr11:96,595,216...96,596,639
Ensembl chr11:83,086,578...83,093,011
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Txndc15
thioredoxin domain containing 15
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr17:8,903,248...8,915,714
Ensembl chr17:8,845,084...8,910,539 Ensembl chr 7:8,845,084...8,910,539
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Ube2b
ubiquitin-conjugating enzyme E2B
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:36,749,365...36,764,335
Ensembl chr10:36,248,438...36,264,665
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Ube2d2
ubiquitin-conjugating enzyme E2D 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:27,638,399...27,680,386
Ensembl chr18:27,364,303...27,406,181
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Uqcrq
ubiquinol-cytochrome c reductase, complex III subunit VII
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,585,864...37,589,328
Ensembl chr10:37,586,888...37,589,169
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Vdac1
voltage-dependent anion channel 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,029,377...37,060,542
Ensembl chr10:36,532,244...36,559,640
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Wdr36
WD repeat domain 36
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,473,663...24,508,092
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Wnt8a
Wnt family member 8A
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:26,411,833...26,417,426
Ensembl chr18:26,137,690...26,143,283
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Yipf5
Yip1 domain family, member 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:32,374,913...32,388,046
Ensembl chr18:32,123,842...32,157,642
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Ythdc2
YTH N6-methyladenosine RNA binding protein C2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:37,517,286...37,582,551
Ensembl chr18:37,265,836...37,331,023
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Zcchc10
zinc finger CCHC-type containing 10
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr10:37,470,628...37,481,027
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Zfp474
zinc finger protein 474
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:46,041,224...46,071,502
Ensembl chr18:46,041,218...46,100,751
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Zfp600
zinc finger protein 600
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
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Zfp608
zinc finger protein 608
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:48,304,873...48,412,846
Ensembl chr18:48,304,880...48,410,465
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Zmat2
zinc finger, matrin type 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
ClinVar
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
NCBI chr18:28,683,617...28,688,252
Ensembl chr18:28,398,795...28,414,747
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:25085752 PMID:25186627 PMID:25741868 PMID:26315354 PMID:26467025 PMID:27443514 PMID:28492532 PMID:29596542 PMID:32268276 PMID:33118316 PMID:33471991 PMID:34326862 More...
NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265
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Eif2b3
eukaryotic translation initiation factor 2B subunit gamma
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:28492532
NCBI chr 5:135,728,764...135,795,276
Ensembl chr 5:130,492,220...130,563,332
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Hectd3
HECT domain E3 ubiquitin protein ligase 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:28492532
NCBI chr 5:135,706,437...135,715,173
Ensembl chr 5:130,469,840...130,478,561
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Hpdl
4-hydroxyphenylpyruvate dioxygenase-like
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:16557584 PMID:17949294 PMID:19806110 PMID:25820570 PMID:28492532
NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:130,286,631...130,288,233
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: MUTYH-related condition ClinVar Annotator: match by term: Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas | ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: MUTYH-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:166460 PMID:186631 PMID:517270 PMID:545764 PMID:2084865 PMID:2914711 PMID:9536098 PMID:9846876 PMID:10612827 PMID:10713439 PMID:11051386 PMID:11092888 PMID:11295288 PMID:11433026 PMID:11801590 PMID:11805113 PMID:11818965 PMID:11864576 PMID:12056405 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:12917422 PMID:14579148 PMID:14618256 PMID:14633673 PMID:14991577 PMID:14999774 PMID:15034862 PMID:15036665 PMID:15180946 PMID:15188161 PMID:15236166 PMID:15273732 PMID:15326180 PMID:15366000 PMID:15465463 PMID:15635083 PMID:15673720 PMID:15690400 PMID:15761860 PMID:15890374 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16042573 PMID:16134146 PMID:16134147 PMID:16140997 PMID:16199547 PMID:16207212 PMID:16234049 PMID:16287072 PMID:16338133 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16890597 PMID:16929514 PMID:16941501 PMID:16996809 PMID:17031395 PMID:17081686 PMID:17122612 PMID:17161978 PMID:17207658 PMID:17219385 PMID:17252231 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17576681 PMID:17581577 PMID:17674103 PMID:17703316 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18172263 PMID:18271935 PMID:18294051 PMID:18301448 PMID:18414213 PMID:18422726 PMID:18433509 PMID:18495334 PMID:18506705 PMID:18515411 PMID:18534194 PMID:18564191 PMID:18776649 PMID:18787472 PMID:18811933 PMID:18992148 PMID:19031083 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19300419 PMID:19394335 PMID:19414147 PMID:19443904 PMID:19479711 PMID:19506731 PMID:19527492 PMID:19531215 PMID:19620482 PMID:19725997 PMID:19732775 PMID:19793053 PMID:19806110 PMID:19836313 PMID:19841264 PMID:19953527 PMID:19998059 PMID:20110747 PMID:20149637 PMID:20191381 PMID:20223003 PMID:20418187 PMID:20571908 PMID:20618354 PMID:20628285 PMID:20663686 PMID:20687945 PMID:20725929 PMID:20816984 PMID:20848659 PMID:21061173 PMID:21063410 PMID:21078199 PMID:21153778 PMID:21167187 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21235684 PMID:21287799 PMID:21424714 PMID:21443744 PMID:21520333 PMID:21777424 PMID:21815886 PMID:21901162 PMID:21952991 PMID:21962078 PMID:22158503 PMID:22252118 PMID:22266422 PMID:22297469 PMID:22402879 PMID:22473953 PMID:22538434 PMID:22641385 PMID:22703879 PMID:22722201 PMID:22744763 PMID:22773231 PMID:22865608 PMID:22922830 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23138270 PMID:23322991 PMID:23361220 PMID:23383274 PMID:23460355 PMID:23507534 PMID:23561487 PMID:23599153 PMID:23605219 PMID:23621914 PMID:23625202 PMID:23677194 PMID:23729658 PMID:23805267 PMID:23820649 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24377541 PMID:24444654 PMID:24470512 PMID:24556621 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24799981 PMID:24834277 PMID:24953332 PMID:25151137 PMID:25186627 PMID:25197429 PMID:25307848 PMID:25318351 PMID:25326637 PMID:25368107 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25569433 PMID:25590978 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25820570 PMID:25856671 PMID:25892863 PMID:25927356 PMID:25937855 PMID:25938944 PMID:25957691 PMID:25980754 PMID:25995449 PMID:26138249 PMID:26202870 PMID:26269718 PMID:26296696 PMID:26300997 PMID:26332594 PMID:26377631 PMID:26414517 PMID:26436112 PMID:26446593 PMID:26467025 PMID:26511139 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26600934 PMID:26615199 PMID:26632267 PMID:26673696 PMID:26681312 PMID:26684149 PMID:26684191 PMID:26689913 PMID:26694661 PMID:26822237 PMID:26824983 PMID:26832770 PMID:26837502 PMID:26845104 PMID:26900293 PMID:26902849 PMID:26944241 PMID:26947005 PMID:26976419 PMID:27014339 PMID:27077130 PMID:27145315 PMID:27153395 PMID:27194394 PMID:27276934 PMID:27377421 PMID:27443514 PMID:27600092 PMID:27631816 PMID:27696107 PMID:27705013 PMID:27720647 PMID:27732944 PMID:27783336 PMID:27797849 PMID:27799157 PMID:27829682 PMID:27870730 PMID:27878467 PMID:27978560 PMID:28087410 PMID:28127763 PMID:28130451 PMID:28135048 PMID:28135145 PMID:28141798 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28199314 PMID:28202063 PMID:28243543 PMID:28251689 PMID:28332257 PMID:28349240 PMID:28445943 PMID:28491533 PMID:28492532 PMID:28495237 PMID:28502729 PMID:28503720 PMID:28526081 PMID:28533537 PMID:28551381 PMID:28569743 PMID:28577310 PMID:28608266 PMID:28634180 PMID:28644590 PMID:28687356 PMID:28709830 PMID:28717660 PMID:28726808 PMID:28790112 PMID:28861346 PMID:28873161 PMID:28873162 PMID:28944238 PMID:28961279 PMID:29093764 PMID:29147111 PMID:29192238 PMID:29212164 PMID:29330641 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29406563 PMID:29431110 PMID:29458332 PMID:29478780 PMID:29484706 PMID:29490034 PMID:29506128 PMID:29557500 PMID:29610499 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29684080 PMID:29700634 PMID:29754767 PMID:29766397 PMID:29785153 PMID:29879026 PMID:29915346 PMID:29954149 PMID:29967336 PMID:29978187 PMID:30067863 PMID:30093976 PMID:30098577 PMID:30122538 PMID:30151275 PMID:30151276 PMID:30256826 PMID:30267214 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30357411 PMID:30374176 PMID:30487145 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30613976 PMID:30620386 PMID:30666091 PMID:30675318 PMID:30676620 PMID:30680046 PMID:30702970 PMID:30716719 PMID:30719162 PMID:30787465 PMID:30833417 PMID:30833958 PMID:30836094 PMID:30850667 PMID:30852976 PMID:30877237 PMID:30886832 PMID:30927264 PMID:30953464 PMID:30982232 PMID:31062380 PMID:31090900 PMID:31104418 PMID:31159747 PMID:31203172 PMID:31214250 PMID:31220976 PMID:31263571 PMID:31273614 PMID:31277343 PMID:31285513 PMID:31350202 PMID:31360874 PMID:31422818 PMID:31447099 PMID:31465090 PMID:31512090 PMID:31575519 PMID:31589614 PMID:31613886 PMID:31618753 PMID:31666926 PMID:31687339 PMID:31739127 PMID:31742824 PMID:31744909 PMID:31780696 PMID:31829624 PMID:31844177 PMID:31867841 PMID:31921681 PMID:31942411 PMID:31970404 PMID:31980526 PMID:32029870 PMID:32066632 PMID:32068069 PMID:32072083 PMID:32088803 PMID:32133419 PMID:32231684 PMID:32255556 PMID:32283892 PMID:32338768 PMID:32390558 PMID:32390703 PMID:32522261 PMID:32570879 PMID:32615015 PMID:32658311 PMID:32665031 PMID:32720237 PMID:32761968 PMID:32782288 PMID:32821650 PMID:32830346 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32888815 PMID:32904697 PMID:32906206 PMID:32923874 PMID:32973888 PMID:32980694 PMID:32984025 PMID:33011440 PMID:33024574 PMID:33062672 PMID:33077847 PMID:33087929 PMID:33094510 PMID:33130102 PMID:33134171 PMID:33193653 PMID:33194656 PMID:33223521 PMID:33230973 PMID:33258288 PMID:33309985 PMID:33313162 PMID:33332384 PMID:33343895 PMID:33359728 PMID:33383211 PMID:33384714 PMID:33414168 PMID:33436027 PMID:33442023 PMID:33471974 PMID:33471991 PMID:33504652 PMID:33553733 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33748650 PMID:33785725 PMID:33850299 PMID:33858029 PMID:33878367 PMID:33901219 PMID:33939675 PMID:33980423 PMID:34026625 PMID:34034685 PMID:34130653 PMID:34250417 PMID:34259353 PMID:34271781 PMID:34285288 PMID:34308104 PMID:34308366 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34404389 PMID:34426522 PMID:34428338 PMID:34506673 PMID:34598035 PMID:34621001 PMID:34637943 PMID:34659905 PMID:34680878 PMID:34687117 PMID:34704405 PMID:34716202 PMID:34775073 PMID:34816434 PMID:34897210 PMID:34981295 PMID:34994648 PMID:35014770 PMID:35070997 PMID:35089076 PMID:35098669 PMID:35176137 PMID:35205332 PMID:35238777 PMID:35264596 PMID:35273153 PMID:35418818 PMID:35430768 PMID:35534218 PMID:35534704 PMID:35535697 PMID:35545820 PMID:35626031 PMID:35628513 PMID:35668106 PMID:35712480 PMID:35734982 PMID:35892882 PMID:35904628 PMID:35939113 PMID:35957908 PMID:35980532 PMID:35988656 PMID:36035419 PMID:36119527 PMID:36135357 PMID:36243179 PMID:36368126 PMID:36451132 PMID:36655350 PMID:36672847 PMID:36744932 PMID:36988593 PMID:37095444 PMID:37096204 PMID:37201251 PMID:37239438 PMID:37306523 PMID:37310942 PMID:37937776 PMID:38060977 PMID:38062336 PMID:38136308 PMID:38196581 PMID:38201513 PMID:38254803 PMID:38397143 PMID:38566764 PMID:38790183 PMID:39825153 More...
NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
G
Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:28492532
NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:130,572,312...130,592,405
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis
ClinVar
PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
G
Toe1
target of EGR1, exonuclease
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: MUTYH-related condition
ClinVar
PMID:9536098 PMID:12056405 PMID:14618256 PMID:16199547 PMID:16408224 PMID:17576681 PMID:18271935 PMID:18534194 PMID:19725997 PMID:20663686 PMID:20725929 PMID:22473953 PMID:25186627 PMID:25741868 PMID:26467025 PMID:27720647 PMID:28492532 PMID:28644590 PMID:30716719 PMID:32821650 PMID:35988656 PMID:36988593 More...
NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050
G
Urod
uroporphyrinogen decarboxylase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:28492532
NCBI chr 5:135,701,294...135,705,380
Ensembl chr 5:130,455,217...130,468,808
G
Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis
ClinVar
PMID:15308610 PMID:17970811 PMID:25741868 PMID:28492532 PMID:31557081 PMID:36705686 More...
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Zswim5
zinc finger, SWIM-type containing 5
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 2
ClinVar
PMID:28492532
NCBI chr 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784
G
Nthl1
nth-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 3 | ClinVar Annotator: match by term: NTHL1-related condition
OMIM ClinVar
PMID:9536098 PMID:9705289 PMID:12840008 PMID:16199547 PMID:17576681 PMID:18515411 PMID:20054297 PMID:21167187 PMID:23852950 PMID:25741868 PMID:25938944 PMID:26214590 PMID:26431160 PMID:26467025 PMID:26553438 PMID:26559593 PMID:26649986 PMID:27329137 PMID:27713038 PMID:27720914 PMID:28492532 PMID:28912133 PMID:29522130 PMID:29625052 PMID:29641532 PMID:29909963 PMID:30248171 PMID:30267214 PMID:30552997 PMID:30584090 PMID:30753826 PMID:30833958 PMID:31220976 PMID:31227763 PMID:31263571 PMID:31285513 PMID:31360874 PMID:31645984 PMID:31672974 PMID:31942411 PMID:32091409 PMID:32300177 PMID:32581083 PMID:32704608 PMID:32860789 PMID:32906206 PMID:33087284 PMID:33193653 PMID:33332384 PMID:33454955 PMID:33980861 PMID:34250384 PMID:34871433 PMID:34994648 PMID:35128723 PMID:35273153 PMID:35739269 PMID:37088804 PMID:37353797 PMID:37460928 PMID:37834005 PMID:38724173 More...
NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: NTHL1-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
G
Dhfr
dihydrofolate reductase
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 4
ClinVar
PMID:20154325 PMID:25741868 PMID:26467025 PMID:27476653 PMID:28492532 PMID:37402566 More...
NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713
G
Msh3
mutS homolog 3
ISO
ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis
OMIM ClinVar
PMID:8782829 PMID:9536098 PMID:11470537 PMID:16199547 PMID:17576681 PMID:20154325 PMID:20981092 PMID:21128252 PMID:21153778 PMID:22179786 PMID:23960188 PMID:25741868 PMID:26467025 PMID:27476653 PMID:28211887 PMID:28492532 PMID:28528517 PMID:28873162 PMID:28875981 PMID:28944238 PMID:29212164 PMID:29641532 PMID:29868112 PMID:31127692 PMID:31243857 PMID:31589614 PMID:31874108 PMID:32619037 PMID:32634176 PMID:33007869 PMID:33193653 PMID:33466343 PMID:33606809 PMID:34250384 PMID:34308366 PMID:34404389 PMID:34767783 PMID:34843512 PMID:34994648 PMID:36563937 PMID:37095444 PMID:37402566 PMID:37895483 PMID:38136308 PMID:38254797 PMID:38770632 More...
NCBI chr 2:25,179,400...25,320,857
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
G
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
G
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Cystic parathyroid adenoma
ClinVar
PMID:12434154
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
G
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
G
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
Tgfbr1
transforming growth factor, beta receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
CTD OMIM ClinVar
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 PMID:10025408 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17576681 PMID:18781618 PMID:19542084 PMID:21267002 PMID:21358634 PMID:22414221 PMID:23358096 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25504618 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29706644 PMID:29907982 PMID:30739908 PMID:31915033 PMID:33256177 PMID:33824467 PMID:34422331 PMID:35092149 PMID:36237225 PMID:36937954 PMID:37937776 More...
NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
G
Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
G
Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038752 PMID:26437033
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
G
Rara
retinoic acid receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr10:84,379,780...84,424,371
Ensembl chr10:83,893,384...83,928,142
G
Wnt2
Wnt family member 2
ISO
mRNA:increased expression:breast
RGD
PMID:8168088
RGD:2291878
NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402
G
Wnt4
Wnt family member 4
ISO
breast fibroadenoma
RGD
PMID:8168088
RGD:2291878
NCBI chr 5:154,797,245...154,818,565
Ensembl chr 5:149,514,018...149,532,859
G
Krt16
keratin 16
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal
ClinVar
PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
NCBI chr10:85,669,276...85,672,211
Ensembl chr10:85,066,802...85,171,799
G
Krt6c
keratin 6c
ISO
ClinVar Annotator: match by term: Focal palmoplantar keratoderma
ClinVar
PMID:19609311
NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045
G
Spata22
spermatogenesis associated 22
ISO
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma
ClinVar
PMID:25741868
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
G
Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISO
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma
ClinVar
PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 PMID:32795529 More...
NCBI chr10:58,382,054...58,413,657
Ensembl chr10:57,883,546...57,913,296
G
Krt16
keratin 16
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1
OMIM ClinVar
PMID:8595410 PMID:16250206 PMID:22336941 PMID:22668561 PMID:24491404 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
NCBI chr10:85,669,276...85,672,211
Ensembl chr10:85,066,802...85,171,799
G
Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISO
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:58,382,054...58,413,657
Ensembl chr10:57,883,546...57,913,296
G
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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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Gardner syndrome
ClinVar
PMID:1316610 PMID:1651174 PMID:1651563 PMID:2164769 PMID:2478327 PMID:7485167 PMID:8162022 PMID:8162051 PMID:8381579 PMID:8381580 PMID:8594558 PMID:9375853 PMID:9487968 PMID:9824584 PMID:9916927 PMID:10094547 PMID:10982189 PMID:11317365 PMID:11466687 PMID:12007223 PMID:12173026 PMID:14633595 PMID:15024739 PMID:15311282 PMID:15857185 PMID:16134147 PMID:16317745 PMID:17135589 PMID:17293347 PMID:17963004 PMID:18199528 PMID:18433509 PMID:20223039 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21643010 PMID:21779980 PMID:21859464 PMID:22000517 PMID:22135120 PMID:22703879 PMID:22987206 PMID:23159591 PMID:23561487 PMID:24728327 PMID:24790607 PMID:24841357 PMID:25142776 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:26613750 PMID:26845104 PMID:26917275 PMID:27081525 PMID:27435373 PMID:27930734 PMID:28492532 PMID:30897307 PMID:31118792 PMID:31942411 PMID:33094510 PMID:35014770 PMID:35296888 PMID:35979026 PMID:36084716 PMID:37542411 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach
OMIM ClinVar
PMID:1316610 PMID:1324223 PMID:1944466 PMID:2996804 PMID:8381579 PMID:8395941 PMID:8730280 PMID:8990002 PMID:9101302 PMID:9585611 PMID:9824584 PMID:9950360 PMID:10083733 PMID:10094547 PMID:10713886 PMID:11001924 PMID:11247896 PMID:11317365 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12173026 PMID:14961559 PMID:15024739 PMID:15108288 PMID:15311282 PMID:16088911 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19531215 PMID:20223039 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21813476 PMID:21859464 PMID:21901162 PMID:22027476 PMID:22135120 PMID:22425061 PMID:22447671 PMID:22851115 PMID:23159591 PMID:23460355 PMID:23484150 PMID:24033266 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25925381 PMID:25980754 PMID:26207792 PMID:26300997 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26508446 PMID:26580448 PMID:26690363 PMID:26845104 PMID:26900293 PMID:27028212 PMID:27081525 PMID:27087319 PMID:27150160 PMID:27343414 PMID:27852271 PMID:28127413 PMID:28492532 PMID:28526081 PMID:28533537 PMID:28726808 PMID:28828701 PMID:28873162 PMID:29112017 PMID:29122597 PMID:29141268 PMID:29641532 PMID:29968043 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30458888 PMID:30897307 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31409086 PMID:31422818 PMID:31591141 PMID:31937788 PMID:33242120 PMID:33294277 PMID:33769591 PMID:34250417 PMID:34426522 PMID:35264596 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: POLYPOSIS, GASTRIC
ClinVar
PMID:1316610 PMID:8381579 PMID:8395941 PMID:8730280 PMID:9101302 PMID:9585611 PMID:9824584 PMID:10713886 PMID:11001924 PMID:11247896 PMID:11317365 PMID:11748858 PMID:14961559 PMID:15311282 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17963004 PMID:18155426 PMID:18199528 PMID:19029688 PMID:19531215 PMID:20223039 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21859464 PMID:21901162 PMID:22135120 PMID:22425061 PMID:22447671 PMID:23159591 PMID:23460355 PMID:23484150 PMID:24033266 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25925381 PMID:25980754 PMID:26207792 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26508446 PMID:26580448 PMID:26690363 PMID:26845104 PMID:26900293 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27852271 PMID:28127413 PMID:28492532 PMID:28526081 PMID:28726808 PMID:28828701 PMID:28873162 PMID:29122597 PMID:29641532 PMID:30267214 PMID:30426508 PMID:30458888 PMID:30897307 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31422818 PMID:31591141 PMID:31937788 PMID:33294277 PMID:33769591 PMID:34250417 PMID:34426522 PMID:35264596 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Wrap53
WD repeat containing, antisense to TP53
disease_progression
ISO
RGD
PMID:28849066
RGD:21081521
NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929
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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
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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
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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
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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
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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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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Abcc1
ATP binding cassette subfamily C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065
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Acod1
aconitate decarboxylase 1
ISO
mRNA:increased expression:cranioceervical (human)
RGD
PMID:37793345
RGD:596992333
NCBI chr15:86,286,531...86,295,803
Ensembl chr15:79,871,827...79,880,529
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23873848
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Ankrd17
ankyrin repeat domain 17
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr14:18,007,342...18,145,980
Ensembl chr14:17,721,932...17,862,617
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12509969
NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
mRNA:increased expression:head or neck skin (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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Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
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Ccdc3
coiled-coil domain containing 3
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
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Ccna1
cyclin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896 PMID:29464035
NCBI chr 2:141,383,352...141,428,205
Ensembl chr 2:139,201,074...139,243,157
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Ccna2
cyclin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 2:121,355,363...121,361,762
Ensembl chr 2:119,426,089...119,433,577
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Ccnb1
cyclin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172
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Ccnd1
cyclin D1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26909611 PMID:29464035 PMID:9796972
RGD:13434911
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101
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Ccne2
cyclin E2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 5:29,082,169...29,094,879
Ensembl chr 5:24,284,922...24,297,632
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Cdc73
cell division cycle 73
exacerbates
ISO
protein:increased expression:squamous epithelium (human)
RGD
PMID:26124004
RGD:11065919
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
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Cdk2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 7:1,714,392...1,721,964
Ensembl chr 7:1,129,811...1,137,403
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Cdk4
cyclin-dependent kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:SNPs: :rs3731217, rs3088440 (human) ClinVar Annotator: match by term: Lip and oral cavity carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:7718873 PMID:8153634 PMID:8668202 PMID:9166859 PMID:11687599 PMID:15146471 PMID:16374456 PMID:16818274 PMID:16905682 PMID:18205010 PMID:18519632 PMID:21801156 PMID:24991542 PMID:25741868 PMID:26192916 PMID:26681309 PMID:26909611 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:29915805 PMID:31382929 PMID:31775759 PMID:21381012 More...
RGD:8552291
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Chd4
chromodomain helicase DNA binding protein 4
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541
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Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
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Cntn4
contactin 4
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr 4:140,180,696...141,177,771
Ensembl chr 4:139,099,152...139,621,090
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34019859
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
treatment
ISO
DNA:polymorphisms: :CYP2C9*2(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr 1:246,175,216...246,211,445
Ensembl chr 1:236,762,842...236,799,066
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms: :CYP2C19*2(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
treatment
ISO
DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759
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Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
RGD
PMID:24556606
RGD:150429746
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human)
RGD
PMID:18455294
RGD:9589078
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:17285735 PMID:19060236 PMID:19096301 PMID:20415598 PMID:21531084 PMID:22980975 PMID:23242437 PMID:23358982 PMID:23371856 PMID:24712396 PMID:24788590 PMID:25130612 PMID:25157968 PMID:25382819 PMID:25741868 PMID:25969368 PMID:26101090 PMID:26619011 PMID:28492532 PMID:28874603 PMID:29576263 PMID:29945477 PMID:31775759 PMID:33644199 PMID:33898318 PMID:34555730 PMID:36698436 PMID:38729783 PMID:38868164 More...
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:20604875
RGD:126790467
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Erbb4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:20604875
RGD:126790467
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
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Fancb
FA complementation group B
ISO
DNA:hypermethylation:promoter
RGD
PMID:20332657
RGD:11344903
NCBI chr X:33,035,387...33,051,993
Ensembl chr X:29,403,771...29,420,192
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Fancd2
FA complementation group D2
ISO
RGD
PMID:20935219
RGD:11344907
NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
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:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26619011 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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Fgfr4
fibroblast growth factor receptor 4
severity
ISO
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:17084840
RGD:150520023
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
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Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr20:53,717,564...54,415,283
Ensembl chr20:52,133,851...52,838,375
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Hoxa5
homeo box A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 4:82,632,958...82,636,851
Ensembl chr 4:81,302,353...81,306,234
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Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:59,594,516...59,597,725
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Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 3:79,992,394...79,994,688
Ensembl chr 3:59,585,039...59,586,783
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20301680 PMID:20658932 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:26916728 PMID:27102959 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:39825153 PMID:168335863 More...
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Ifnl3
interferon, lambda 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21304406
NCBI chr 1:92,941,988...92,943,628
Ensembl chr 1:83,814,564...83,816,096
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30594912
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738319
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il1rap
interleukin 1 receptor accessory protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738319
NCBI chr11:87,567,813...87,704,346
Ensembl chr11:74,070,304...74,199,530
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Il2
interleukin 2
ISO
RGD
PMID:3263896 PMID:2787951
RGD:8662923 , RGD:8662971
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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Ing1
inhibitor of growth family, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
OMIM CTD ClinVar
PMID:10866301
NCBI chr16:84,639,378...84,649,498
Ensembl chr16:77,937,279...77,946,264
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Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30594912
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:26754630
RGD:11556098
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
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Kiss1
KiSS-1 metastasis-suppressor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21383688
NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Lnx1
ligand of numb-protein X 1
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr14:33,868,517...33,971,217
Ensembl chr14:33,514,436...33,617,086
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20301680 PMID:20658932 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:26916728 PMID:27102959 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:39825153 PMID:168335863 More...
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24991542
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
RGD
PMID:30617160
RGD:21081517
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19487542
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
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Mir494
microRNA 494
exacerbates
ISO
RGD
PMID:26090866
RGD:11529207
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793
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Mmp2
matrix metallopeptidase 2
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Naip6
NLR family, apoptosis inhibitory protein 6
ameliorates
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:31,507,424...31,570,542
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Nampt
nicotinamide phosphoribosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28501332
NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:49,424,332...49,462,100
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972152
NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880
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Nsdhl
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23125191
NCBI chr X:155,817,301...155,848,224
Ensembl chr X:150,775,080...150,807,142
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP: :rs1052133 (human)
RGD
PMID:22081374 PMID:21727658
RGD:8657144 , RGD:8657147
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23873848 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 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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Ppp2r1a
protein phosphatase 2 scaffold subunit A alpha
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265
NCBI chr 1:69,213,198...69,232,441
Ensembl chr 1:60,540,194...60,560,129
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 5:12,720,683...13,036,077
Ensembl chr 5:7,942,573...8,253,068
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD ClinVar
PMID:11801303 PMID:23873848 PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 PMID:29706350 PMID:29785012 PMID:30311380 PMID:32350270 PMID:32885271 PMID:34793697 PMID:35931053 PMID:38645101 More...
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
CTD Direct Evidence: marker/mechanism
CTD
PMID:12969226
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
susceptibility
ISO
DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)
RGD
PMID:19892796 PMID:19672627
RGD:152176661 , RGD:152176665
NCBI chr14:6,412,841...6,587,238
Ensembl chr14:6,108,211...6,282,563
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Rasgrp3
RAS guanyl releasing protein 3
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 6:25,647,386...25,745,952
Ensembl chr 6:19,895,390...19,958,578
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Samd4a
sterile alpha motif domain containing 4A
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr15:22,616,200...22,831,872
Ensembl chr15:20,134,377...20,348,380
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Serpine1
serpin family E member 1
severity
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:15878520
RGD:8547730
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Smad4
SMAD family member 4
ISO
RGD
PMID:19841536
RGD:12880035
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Sntb1
syntrophin, beta 1
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr 7:88,950,642...89,219,017
Ensembl chr 7:87,060,926...87,329,315
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20618948
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27064016 PMID:24395569
RGD:8694302
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD
PMID:16217763
RGD:11038717
NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic
CTD ClinVar
PMID:124622 PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1644930 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1849234 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2932480 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7478555 PMID:7565304 PMID:7651740 PMID:7700647 PMID:7706467 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:7966399 PMID:7981076 PMID:8001119 PMID:8012986 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8102535 PMID:8118819 PMID:8134126 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8675009 PMID:8688334 PMID:8710380 PMID:8718514 PMID:8816796 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8843196 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9049184 PMID:9067756 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9285560 PMID:9290701 PMID:9301461 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9470817 PMID:9472631 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9582268 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9825943 PMID:9839505 PMID:9891044 PMID:9979965 PMID:10064694 PMID:10089074 PMID:10206274 PMID:10229196 PMID:10366100 PMID:10389749 PMID:10411893 PMID:10432928 PMID:10435620 PMID:10486318 PMID:10519380 PMID:10519384 PMID:10554037 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11403041 PMID:11423991 PMID:11429705 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11590071 PMID:11593407 PMID:11600572 PMID:11668501 PMID:11753428 PMID:11782540 PMID:11793474 PMID:11805092 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12034820 PMID:12067251 PMID:12076704 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12782597 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14639659 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15121773 PMID:15138567 PMID:15161705 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15654279 PMID:15659650 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15964795 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16007150 PMID:16033918 PMID:16199547 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16461914 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16534790 PMID:16551709 PMID:16633321 PMID:16644204 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16750598 PMID:16754663 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16933305 PMID:16964264 PMID:17015838 PMID:17133269 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17940213 PMID:17947339 PMID:18208484 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18940924 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19139070 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19416725 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19717094 PMID:19756158 PMID:19834951 PMID:19850740 PMID:19877175 PMID:19881536 PMID:19909015 PMID:19913028 PMID:19930417 PMID:19933256 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20234365 PMID:20301488 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20471942 PMID:20504876 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20538734 PMID:20586629 PMID:20589832 PMID:20593220 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PMID:22553460 PMID:22619358 PMID:22653678 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23028800 PMID:23031740 PMID:23056559 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23200980 PMID:23246812 PMID:23255406 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23469205 PMID:23484829 PMID:23531339 PMID:23538418 PMID:23570263 PMID:23612969 PMID:23624782 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:23897043 PMID:23939625 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24171036 PMID:24256616 PMID:24278325 PMID:24307375 PMID:24326041 PMID:24381225 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PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25961455 PMID:25980754 PMID:26000489 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26086041 PMID:26205489 PMID:26206375 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26484312 PMID:26497680 PMID:26513723 PMID:26554828 PMID:26556299 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26655088 PMID:26659639 PMID:26681051 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27059324 PMID:27077130 PMID:27081505 PMID:27091190 PMID:27101110 PMID:27101868 PMID:27146902 PMID:27149858 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27210295 PMID:27223487 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27372520 PMID:27374712 PMID:27391063 PMID:27449771 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27601191 PMID:27616075 PMID:27619989 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27726232 PMID:27730344 PMID:27813088 PMID:27866339 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27923552 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28166194 PMID:28176830 PMID:28202063 PMID:28230820 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28477316 PMID:28477317 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28573494 PMID:28724667 PMID:28756477 PMID:28767289 PMID:28772286 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28949402 PMID:28968711 PMID:28973705 PMID:28975465 PMID:28984303 PMID:29025599 PMID:29058119 PMID:29059199 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29581140 PMID:29625052 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29844874 PMID:29875428 PMID:29922827 PMID:29946497 PMID:29955864 PMID:29956451 PMID:29958926 PMID:29979965 PMID:30042151 PMID:30067863 PMID:30076369 PMID:30092803 PMID:30099178 PMID:30107044 PMID:30107858 PMID:30128536 PMID:30147334 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30252118 PMID:30262806 PMID:30264118 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30588330 PMID:30594912 PMID:30596752 PMID:30607672 PMID:30630526 PMID:30653764 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30828720 PMID:30840781 PMID:30918304 PMID:30982232 PMID:31016814 PMID:31060593 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31159747 PMID:31168460 PMID:31206626 PMID:31278746 PMID:31296311 PMID:31300551 PMID:31321604 PMID:31422574 PMID:31494577 PMID:31567591 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31937788 PMID:31948886 PMID:31978118 PMID:32000721 PMID:32019277 PMID:32039725 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32292755 PMID:32295079 PMID:32318955 PMID:32371905 PMID:32475984 PMID:32554555 PMID:32566746 PMID:32592449 PMID:32658311 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32885271 PMID:32888145 PMID:32906206 PMID:32930885 PMID:32959997 PMID:32980694 PMID:32986223 PMID:32994724 PMID:33051313 PMID:33087929 PMID:33089535 PMID:33128190 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33309985 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33504652 PMID:33603772 PMID:33633026 PMID:33637564 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34049842 PMID:34067731 PMID:34240179 PMID:34266904 PMID:34273903 PMID:34284872 PMID:34308366 PMID:34426522 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34885220 PMID:34907344 PMID:34994652 PMID:35017683 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35323354 PMID:35367578 PMID:35512711 PMID:35626031 PMID:35820297 PMID:35875466 PMID:35884425 PMID:35886069 PMID:35938033 PMID:35974385 PMID:36003761 PMID:36219266 PMID:36329109 PMID:36988593 PMID:37373225 PMID:37563628 PMID:37680325 PMID:37704212 PMID:37851120 PMID:38153744 PMID:38201513 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Vamp7
vesicle-associated membrane protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr12:21,842,206...21,958,556
Ensembl chr12:16,728,524...16,764,097
G
Wee1
WEE1 G2 checkpoint kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr 1:173,605,609...173,632,450
Ensembl chr 1:164,174,779...164,197,688
G
Wrap53
WD repeat containing, antisense to TP53
treatment
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar RGD
PMID:25070141 PMID:25456005
RGD:21081533 , RGD:21081529
NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929
G
Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729916
NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
Hp
haptoglobin
IEP
RGD
PMID:10569800
RGD:1626391
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
G
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
Chml
CHM like Rab escort protein
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:90,141,880...90,152,097
Ensembl chr13:87,589,298...87,619,862
G
Chrm3
cholinergic receptor, muscarinic 3
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:64,696,549...65,158,622
Ensembl chr17:60,005,202...60,467,278
G
Exo1
exonuclease 1
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:90,341,947...90,366,861
Ensembl chr13:87,809,810...87,834,654
G
Fh
fumarate hydratase
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous | ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16237213 PMID:16309500 PMID:16403393 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16881969 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18414213 PMID:18514489 PMID:19183174 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20231875 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23203078 PMID:23211287 PMID:23612258 PMID:23707781 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27097334 PMID:27377421 PMID:27454940 PMID:27541980 PMID:28266706 PMID:28289076 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28518168 PMID:28592321 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29174943 PMID:29423582 PMID:29456767 PMID:29530542 PMID:29625052 PMID:29641532 PMID:29684080 PMID:29797630 PMID:29893455 PMID:29909963 PMID:29978187 PMID:30013182 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31524643 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:31844177 PMID:32008151 PMID:32012241 PMID:32091409 PMID:32154112 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 PMID:33362715 PMID:33397043 PMID:33402335 PMID:33439686 PMID:33442023 PMID:33606809 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34654685 PMID:34994643 PMID:35163394 PMID:35216667 PMID:35251648 PMID:35441217 PMID:35626031 PMID:35806449 PMID:35874919 PMID:35993574 PMID:36315513 PMID:36451132 PMID:36773955 PMID:36777509 PMID:37053010 PMID:37095444 PMID:37430226 PMID:38002934 PMID:38279137 PMID:38539105 PMID:38721148 PMID:15937070 More...
RGD:1598939
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266
G
Fmn2
formin 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411
G
Grem2
gremlin 2, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:89,310,897...89,403,856
Ensembl chr13:86,778,500...86,871,615
G
Kmo
kynurenine 3-monooxygenase
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:90,089,340...90,121,108
Ensembl chr13:87,557,286...87,588,881
G
Opn3
opsin 3
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847
G
Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:90,426,689...90,765,072
Ensembl chr13:87,896,369...88,232,868
G
Rgs7
regulator of G-protein signaling 7
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:89,511,492...89,941,082
Ensembl chr13:86,979,279...87,408,888
G
Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142
G
Wdr64
WD repeat domain 64
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
G
Zp4
zona pellucida glycoprotein 4
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:63,697,147...63,703,700
Ensembl chr17:59,005,649...59,012,202
G
Grem1
gremlin 1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome
ClinVar
PMID:33208383
NCBI chr 3:120,966,639...120,978,319
Ensembl chr 3:100,512,313...100,524,082
G
Scg5
secretogranin V
ISO
ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome
ClinVar
PMID:25741868
NCBI chr 3:120,998,420...121,042,881
Ensembl chr 3:100,544,099...100,588,463
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1
ClinVar
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
G
Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1
ClinVar
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
G
Ctnna1
catenin alpha 1
ISO
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1
ClinVar
PMID:25741868 PMID:28492532 PMID:32051609 PMID:34425242
NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910
G
Grem1
gremlin 1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1
ClinVar
PMID:25741868
NCBI chr 3:120,966,639...120,978,319
Ensembl chr 3:100,512,313...100,524,082
G
Scg5
secretogranin V
ISO
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1
ClinVar
PMID:22561515
NCBI chr 3:120,998,420...121,042,881
Ensembl chr 3:100,544,099...100,588,463
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 PMID:12417513 PMID:12676908 PMID:14526373 PMID:14734220 PMID:15235019 PMID:16199547 PMID:16525031 PMID:17325551 PMID:17576681 PMID:17873119 PMID:18178612 PMID:18823382 PMID:20845481 PMID:22703879 PMID:23399955 PMID:23433720 PMID:24033266 PMID:24055113 PMID:24728327 PMID:25058500 PMID:25117502 PMID:25186627 PMID:25525159 PMID:25530832 PMID:25637381 PMID:25741868 PMID:25980754 PMID:25996639 PMID:26467025 PMID:26580448 PMID:26845104 PMID:26976419 PMID:27146957 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28660566 PMID:28717660 PMID:29522511 PMID:29596542 PMID:29641532 PMID:30029678 PMID:30093976 PMID:30306255 PMID:30374176 PMID:30680046 PMID:30884445 PMID:31159747 PMID:31727138 PMID:31769494 PMID:32459922 PMID:32522261 PMID:33032550 PMID:33110269 PMID:33821390 PMID:34326862 PMID:35430768 PMID:35534704 PMID:35957908 PMID:36049049 PMID:36243179 PMID:37323311 PMID:37400896 PMID:37463056 PMID:39825153 More...
NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616
G
Aard
alanine and arginine rich domain containing protein
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317
G
Ccn3
cellular communication network factor 3
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:86,094,000...86,101,019
G
Col14a1
collagen type XIV alpha 1 chain
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,611,827...88,826,939
Ensembl chr 7:86,722,094...86,937,214
G
Colec10
collectin subfamily member 10
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:85,744,895...85,805,675
G
Deptor
DEP domain containing MTOR-interacting protein
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,404,745...88,574,065
Ensembl chr 7:86,514,988...86,667,773
G
Dscc1
DNA replication and sister chromatid cohesion 1
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,372,349...88,390,815
Ensembl chr 7:86,482,588...86,498,212
G
Eif3h
eukaryotic translation initiation factor 3, subunit H
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:83,091,039...83,174,451
G
Enpp2
ectonucleotide pyrophosphatase/phosphodiesterase 2
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,092,140...88,214,758
Ensembl chr 7:86,202,350...86,324,827
G
Ext1
exostosin glycosyltransferase 1
ISO ISS
DNA:frameshift mutations, missense mutation:cds:multiple (human) ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis OMIM:133700 | OMIM:133701 | OMIM:600209 DNA:missense mutation:cds:p.Y271H (human) DNA:frameshift mutation:cds:p.S442IfsX1 (human) DNA:frameshift mutation:cds:p.K218fsX247 (human) DNA:nonsense mutation:cds:p.Y634X (human) DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human) DNA:deletion:cds:p.V545_E574del (human) CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9536098 PMID:9620772 PMID:10480354 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11342960 PMID:11391482 PMID:11432960 PMID:11668521 PMID:12032595 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:16638657 PMID:16879194 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18330718 PMID:18373409 PMID:18452536 PMID:18976157 PMID:19344451 PMID:19810120 PMID:19819120 PMID:19839753 PMID:20025490 PMID:20080592 PMID:20418910 PMID:21039224 PMID:21499719 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:22913777 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25525159 PMID:25541963 PMID:25640679 PMID:25727835 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26622573 PMID:26690531 PMID:26839764 PMID:26961984 PMID:28170084 PMID:28492532 PMID:28600779 PMID:28604967 PMID:28690282 PMID:29126381 PMID:29529714 PMID:29620724 PMID:29989442 PMID:30334991 PMID:30806661 PMID:31096510 PMID:31400121 PMID:33632255 PMID:33726816 PMID:36247276 PMID:37317574 PMID:38666931 PMID:8981950 PMID:17767039 PMID:17767039 PMID:25421355 PMID:12490068 PMID:24297320 PMID:18330718 PMID:26839764 More...
RGD:1598916 , RGD:13208236 , RGD:13208236 , RGD:13208234 , RGD:13208233 , RGD:13208229 , RGD:13208228 , RGD:13208227
NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357
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Ext2
exostosin glycosyltransferase 2
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:133700 | OMIM:133701 | OMIM:600209 ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas
CTD MouseDO ClinVar
PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532
NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059
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Mal2
mal, T-cell differentiation protein 2
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:87,790,239...87,823,219
Ensembl chr 7:85,900,453...85,933,429
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Med30
mediator complex subunit 30
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:85,894,638...85,916,373
Ensembl chr 7:84,004,722...84,026,595
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Mrpl13
mitochondrial ribosomal protein L13
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,841,265...88,862,821
Ensembl chr 7:86,951,541...86,973,577
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Mtbp
MDM2 binding protein
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,862,939...88,945,491
Ensembl chr 7:86,973,069...87,050,827
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21533187
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Rad21
RAD21 cohesin complex component
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817
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Samd12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:84,768,254...85,271,766
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Slc30a8
solute carrier family 30 member 8
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:85,481,864...85,517,255
Ensembl chr 7:83,591,993...83,626,305
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Sntb1
syntrophin, beta 1
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:88,950,642...89,219,017
Ensembl chr 7:87,060,926...87,329,315
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Taf2
TATA-box binding protein associated factor 2
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
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Trps1
transcriptional repressor GATA binding 1
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905
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Utp23
UTP23, small subunit processome component
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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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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Krt10
keratin 10
ISO
ClinVar Annotator: match by term: Ichthyosis hystrix gravior
OMIM ClinVar
PMID:17355236 PMID:27212473
NCBI chr10:84,834,865...84,839,160
Ensembl chr10:84,338,706...84,343,701
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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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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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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:nucleus:
RGD
PMID:19863319 PMID:21608063
RGD:8662353 , RGD:8662357
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:22730814
RGD:8548614
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:12541477
RGD:8551779
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:12541477
RGD:8551779
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Mafa
MAF bZIP transcription factor A
ISO
ClinVar Annotator: match by term: Islet cell adenomatosis
OMIM ClinVar
PMID:25741868 PMID:29339498 PMID:35406570
NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:107,433,605...107,434,690
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Nfatc2
nuclear factor of activated T-cells 2
ISO
OMIM
NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:157,198,872...157,328,325
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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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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 PMID:28492532 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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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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Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:149,779,675...149,787,140
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:19736197
RGD:5135499
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Serpina3n
serpin family A member 3N
ISO
protein:decreased expression:serum
RGD
PMID:16273852
RGD:5147435
NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
RGD
PMID:10618282
RGD:5147846
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901
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Ada
adenosine deaminase
ISO
protein:decreased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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Cat
catalase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Cdc73
cell division cycle 73
disease_progression
ISO
protein:decreased expression:larynx (human)
RGD
PMID:27334641
RGD:150539447
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:15646812
RGD:8662837
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Chd4
chromodomain helicase DNA binding protein 4
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33315534
RGD:153323310
NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541
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Egfr
epidermal growth factor receptor
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
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Foxl2
forkhead box L2
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:32517588
RGD:151667913
NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:99,513,303...99,514,427
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Gpx1
glutathione peroxidase 1
disease_progression no_association
ISO
protein:increased expression:larynx (human) DNA:missense mutation:CDS:p.P198L (human) DNA:missense mutation:CDS:p.P198L (rs1050450) (human)
RGD
PMID:28641905 PMID:24074040 PMID:27188866
RGD:152995454 , RGD:152995493 , RGD:152995455
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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Map2k4
mitogen activated protein kinase kinase 4
severity
ISO
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993
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Mir10a
microRNA 10a
severity
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280
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Mir136
microRNA 136
ISO
RNA:decreased expression:larynx (human)
RGD
PMID:32014687
RGD:153344610
NCBI chr 6:134,331,335...134,331,416
Ensembl chr 6:128,549,096...128,549,177
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Mir21
microRNA 21
exacerbates
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mir31
microRNA 31
disease_progression
ISO
RNA:decreased expression:mucosa of larynx (human)
RGD
PMID:29737563
RGD:152998933
NCBI chr 5:108,714,849...108,714,954
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Mlh1
mutL homolog 1
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:19922706 PMID:16155914
RGD:5131602 , RGD:5131856
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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Plcg1
phospholipase C, gamma 1
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33466212
RGD:151665160
NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330
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Rela
RELA proto-oncogene, NF-kB subunit
severity
ISO
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
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Xdh
xanthine dehydrogenase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
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Xrcc1
X-ray repair cross complementing 1
ISO
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma
ClinVar
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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Ar
androgen receptor
ISO
RGD
PMID:15704521
RGD:1578690
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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Bak1
BCL2-antagonist/killer 1
ISO
associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium
RGD
PMID:16962107
RGD:1643479
NCBI chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:23789224
RGD:10054112
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
treatment
ISO IEP
protein:increased expression:myometrium
RGD
PMID:16962107 PMID:23789224
RGD:1643479 , RGD:10054112
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:myometrium
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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Cav1
caveolin 1
ISO
protein:increased expression:uterus
RGD
PMID:17952758
RGD:2296031
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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Ccng1
cyclin G1
ISO
mRNA, protein:increased expression:uterus, myometrium
RGD
PMID:12634633
RGD:2316023
NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,176,234...25,181,641
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Comt
catechol-O-methyltransferase
susceptibility
ISO
associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M protein:increased expression:myometrium
RGD
PMID:16443508 PMID:16730007
RGD:2289780 , RGD:2289717
NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
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Csnk2b
casein kinase 2 beta
ISO
RGD
PMID:25327614
RGD:11565842
NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,698,733...3,707,133
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31468104
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18701604 PMID:31468104
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IEP
RGD
PMID:22504913
RGD:9588321
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
protein:increased expression:myometrium
RGD
PMID:18000229
RGD:2292498
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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Fgf1
fibroblast growth factor 1
disease_progression
ISO
protein:increased expression:uterus
RGD
PMID:16139411
RGD:2290287
NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357
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Fgf2
fibroblast growth factor 2
disease_progression
ISO
protein:increased expression:uterus
RGD
PMID:16139411
RGD:2290287
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Fgf7
fibroblast growth factor 7
ISO
RGD
PMID:18566572
RGD:2301090
NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:113,281,283...113,332,929
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Fzd2
frizzled class receptor 2
ISO
mRNA, protein:increased expression:myometrium
RGD
PMID:12909487
RGD:2298700
NCBI chr10:88,061,988...88,063,898
Ensembl chr10:87,561,326...87,565,334
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Gper1
G protein-coupled estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31468104
NCBI chr12:20,331,073...20,336,527
Ensembl chr12:15,217,442...15,221,889
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Hmga2
high mobility group AT-hook 2
ISO
uterine leiomyoma, OMIM:150699
RGD
PMID:8954805
RGD:1601568
NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:55,880,112...55,994,784
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Hnrnpm
heterogeneous nuclear ribonucleoprotein M
ISO
mRNA:increased expression:uterine myometrium (human)
RGD
PMID:18566572
RGD:2301090
NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762
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Igfbp6
insulin-like growth factor binding protein 6
ISO
uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray (human)
RGD
PMID:15705628
RGD:2301708
NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
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Inhba
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228119
NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982
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Kat6b
lysine acetyltransferase 6B
ISO
DNA:translocation:intron:IVS3 (human)
RGD
PMID:15313893
RGD:9590338
NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
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Kif5c
kinesin family member 5C
ISO
mRNA:increased expression:myometrium (human)
RGD
PMID:20396563
RGD:12859089
NCBI chr 3:54,441,266...54,591,630
Ensembl chr 3:34,032,105...34,182,413
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Lnpep
leucyl and cystinyl aminopeptidase
disease_progression
ISO
associated with Uterine Neoplasms;protein:increased expression:serum
RGD
PMID:7446622
RGD:2314924
NCBI chr 1:66,931,712...67,027,610
Ensembl chr 1:58,258,642...58,354,544
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Mki67
marker of proliferation Ki-67
IDA
RGD
PMID:22302692
RGD:6483544
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
ISO
protein:increased expression:myometrium
RGD
PMID:17943549
RGD:2290362
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
RGD
PMID:22302692
RGD:6483544
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:smooth muscle cell
RGD
PMID:10671823
RGD:2292088
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Parp1
poly (ADP-ribose) polymerase 1
treatment
IEP
RGD
PMID:21896544
RGD:10413890
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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Pcna
proliferating cell nuclear antigen
treatment
ISO IEP
protein:increased expression:myometrium
RGD
PMID:18000229 PMID:21896544
RGD:2292498 , RGD:10413890
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Pcp4
Purkinje cell protein 4
ISO
mRNA,protein:increased expression:uterine myometrium:
RGD
PMID:14561813
RGD:9850247
NCBI chr11:49,229,185...49,331,186
Ensembl chr11:35,800,713...35,861,725
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Pdgfa
platelet derived growth factor subunit A
ISO
protein:increased expression:myometrium
RGD
PMID:16294022
RGD:2292153
NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
ISO
protein:increased expression:myometrium
RGD
PMID:16294022
RGD:2292153
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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Pgr
progesterone receptor
no_association
ISO
RGD
PMID:15807882
RGD:1601278
NCBI chr 8:14,354,398...14,413,271
Ensembl chr 8:6,072,673...6,131,344
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Pten
phosphatase and tensin homolog
ISO
protein:increased phosphorylation:myometrium protein:decreased expression:myometrium
RGD
PMID:17097286 PMID:18000229
RGD:2292508 , RGD:2292498
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptger3
prostaglandin E receptor 3
ISO
mRNA:increased expression:uterine myometrium (human)
RGD
PMID:17407572
RGD:10043352
NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:246,606,183...246,684,434
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Ptk2
protein tyrosine kinase 2
ISO
RGD
PMID:12517589
RGD:2292569
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
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Sfrp1
secreted frizzled-related protein 1
ISO
Uterine leiomyoma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15972578 PMID:15972578
RGD:2298808
NCBI chr16:75,278,325...75,316,736
Ensembl chr16:68,575,763...68,614,286
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Smad3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228119
NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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Tgfbr1
transforming growth factor, beta receptor 1
IMP
RGD
PMID:17505012
RGD:2302021
NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15937110 PMID:21145542
RGD:11568684
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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Wnt5b
Wnt family member 5B
ISO
Uterine leiomyoma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15972578 PMID:15972578
RGD:2298808
NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:152,609,569...152,733,407
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Wnt7a
Wnt family member 7A
ISO
RGD
PMID:11232041
RGD:2298847
NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:123,863,108...123,908,981
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism: :p.R399Q
RGD
PMID:15760950
RGD:2302578
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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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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Cd44
CD44 molecule
ISO
RGD
PMID:15762960
RGD:2296043
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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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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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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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034
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Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr10:50,154,724...50,322,027
Ensembl chr10:49,655,584...49,824,297
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Arid1a
AT-rich interaction domain 1A
exacerbates
ISO
protein:decreased expression:lung (human)
RGD
PMID:32823232
RGD:126848760
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Arpc5
actin related protein 2/3 complex, subunit 5
ISO
mRNA:increased expression:lung (human)
RGD
PMID:22089643
RGD:11049488
NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
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Atm
ATM serine/threonine kinase
susceptibility
ISO
DNA:SNP:intron:(rs228589) (human)
RGD
PMID:28642860
RGD:150383339
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Atrx
ATRX, chromatin remodeler
severity
ISO
RGD
PMID:31374064
RGD:127285382
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330
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Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Birc6
baculoviral IAP repeat-containing 6
disease_progression
ISO
mRNA:increased expression:lung (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
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 PMID:15035987 PMID:16439621 PMID:16474404 PMID:17603483 PMID:18042262 PMID:18186519 PMID:18794803 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19537845 PMID:20350999 PMID:21062266 PMID:21129611 PMID:21483012 PMID:21784453 PMID:22310681 PMID:22649091 PMID:22773810 PMID:23273605 PMID:23833300 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25463315 PMID:25741868 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29907801 PMID:31336229 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Bsg
basigin
ISO
mRNA:increased expression:lung
RGD
PMID:9154157
RGD:2289059
NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387
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Cblb
Cbl proto-oncogene B
disease_progression
ISO
RGD
PMID:29384143
RGD:150540336
NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839
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Ccnd1
cyclin D1
disease_progression
ISO
protein:increased expression:lung
RGD
PMID:27498289
RGD:13434929
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
ISO
DNA:hypermethylation:promoter
RGD
PMID:30308939
RGD:151665105
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
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Cdk4
cyclin-dependent kinase 4
ISO
protein:increased expression:lung
RGD
PMID:9751261
RGD:13464277
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:8552400 PMID:8573142 PMID:9053859 PMID:9660926 PMID:10498896 PMID:15235029 PMID:15860862 PMID:16354195 PMID:16905682 PMID:18024887 PMID:21325014 PMID:21462282 PMID:22368299 PMID:22841127 PMID:24659262 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26681309 PMID:26775776 PMID:28492532 PMID:28592523 PMID:35001868 PMID:36139606 More...
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Chd4
chromodomain helicase DNA binding protein 4
ISO
mRNA:increased expression:lung (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs503464(human) mRNA:increased expression:lung
RGD
PMID:23314339 PMID:20124469
RGD:150527849 , RGD:150527851
NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
susceptibility
ISO
mRNA:increased expression:lung DNA:hypomethylation:promoter: DNA:SNP:: (rs7178270) (human)
RGD
PMID:20124469 PMID:22945651 PMID:23397474
RGD:150527851 , RGD:151361154 , RGD:151361148
NCBI chr 8:64,312,644...64,333,319
Ensembl chr 8:55,418,313...55,437,027
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Clptm1l
CLPTM1-like
susceptibility no_association
ISO
mRNA:increased expression:lung DNA:SNP: :rs401681(human) DNA:SNP::rs401681(human) DNA:SNP:: rs31490(human)
RGD
PMID:24366883 PMID:24386361 PMID:24861918 PMID:23908149
RGD:150530483 , RGD:150537098 , RGD:150530499 , RGD:150530498
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:lung (human)
RGD
PMID:23702648
RGD:150524280
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Ctnnb1
catenin beta 1
disease_progression
ISO
protein:increased expression:lung
RGD
PMID:27498289
RGD:13434929
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Cycs
cytochrome c, somatic
treatment
ISO
RGD
PMID:25578497
RGD:13792769
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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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility
ISO
Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human)
RGD
PMID:10739169
RGD:7829734
NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
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Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma mRNA:increased expression:lung
ClinVar RGD
PMID:22328973 PMID:25741868 PMID:26206333 PMID:28492532 PMID:24885564 PMID:22807955 More...
RGD:150429702 , RGD:150429703
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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E2f1
E2F transcription factor 1
treatment
ISO
RGD
PMID:28927142
RGD:13464332
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361
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E2f3
E2F transcription factor 3
ISO
RGD
PMID:16938365
RGD:13464341
NCBI chr17:34,810,355...34,887,725
Ensembl chr17:34,601,830...34,676,253
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Eef2
eukaryotic translation elongation factor 2
disease_progression
ISO
protein:increased expression:lung (human)
RGD
PMID:27542262
RGD:153298910
NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:20942962 PMID:24033266 PMID:25382819 PMID:25741868 PMID:27294619 PMID:28492532 PMID:30098700 PMID:30610926 PMID:31721094 PMID:32171629 PMID:32978515 PMID:32978518 PMID:1111234672 More...
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Emx2
empty spiracles homeobox 2
exacerbates
ISO
protein:decreased expression:lung (human)
RGD
PMID:26132438
RGD:11079903
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
mRNA, protein:increased expression:lung (human)
RGD
PMID:31615563
RGD:155260344
NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587
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Ercc6l
ERCC excision repair 6 like, spindle assembly checkpoint helicase
ISO
mRNA:increased expression:lung (human)
RGD
PMID:35150321
RGD:155260359
NCBI chr X:71,285,380...71,301,186
Ensembl chr X:67,245,414...67,280,756
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Fap
fibroblast activation protein, alpha
disease_progression
ISO
RGD
PMID:26252379
RGD:152600901
NCBI chr 3:67,547,398...67,616,271
Ensembl chr 3:47,138,813...47,225,545
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:170,149,694...170,309,941
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Fgf9
fibroblast growth factor 9
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28440022
RGD:152180844
NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:8589699 PMID:10471491 PMID:11038465 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19749790 PMID:20301540 PMID:25606676 PMID:25614871 PMID:25741868 PMID:28492532 More...
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
disease_progression
ISO
human cells in mouse model
RGD
PMID:29402970
RGD:150429984
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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Frzb
frizzled-related protein
ISO
protein:decreased expression:lung (human)
RGD
PMID:27623992
RGD:32716395
NCBI chr 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208
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Fubp1
far upstream element binding protein 1
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602
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Gpx1
glutathione peroxidase 1
susceptibility
ISO
DNA:missense mutation:CDS:p.P198L (rs1050450) (human) DNA:missense mutation:CDS:p.P200L (rs1050450) (human)
RGD
PMID:16797832 PMID:18298806
RGD:152995481 , RGD:152995507
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:24046070
RGD:149735540
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
severity susceptibility
ISO
protein:increased expression:lung (human) protein:increased expression:blood serum (human) DNA:SNP:CD: (rs11540478) C>T (human)
RGD
PMID:30128035 PMID:29465809 PMID:27649069
RGD:149735564 , RGD:149735567 , RGD:149735566
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
RGD
PMID:24323028 PMID:30885352 PMID:28177435
RGD:150523770 , RGD:150523777 , RGD:150523776
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:6695174 PMID:15696205 PMID:17704260 PMID:26242988 PMID:28492532
NCBI chr 4:179,916,255...179,949,613
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Lamc2
laminin subunit gamma 2
disease_progression
ISO
RGD
PMID:23124251
RGD:13793371
NCBI chr13:67,835,199...67,894,694
Ensembl chr13:65,284,664...65,344,200
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
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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Map2k7
mitogen activated protein kinase kinase 7
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:31089135
RGD:155253742
NCBI chr12:7,389,032...7,398,377
Ensembl chr12:2,591,219...2,604,222
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mir154
microRNA 154
ISO
associated with nicotine dependence; RNA:decreased expression:blood serum (human)
RGD
PMID:25386559
RGD:152995475
NCBI chr 6:134,574,352...134,574,435
Ensembl chr 6:128,752,947...128,753,030
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Mir193a
microRNA 193a
exacerbates
ISO
DNA:Hypermethylation
RGD
PMID:22282464
RGD:153344598
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mir20a
microRNA 20a
ISO
RGD
PMID:26560875
RGD:11572141
NCBI chr15:98,588,303...98,588,387
Ensembl chr15:92,181,084...92,181,168
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Mir210
microRNA 210
ISO
miRNA:increased expression:sputum (human)
RGD
PMID:27777637
RGD:152998954
NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454
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Mir31
microRNA 31
severity
ISO
RNA:increased expression:blood serum (human) RNA:increased expression:lung (human)
RGD
PMID:21658006 PMID:21890451
RGD:152998938 , RGD:152998950
NCBI chr 5:108,714,849...108,714,954
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Mir497
microRNA 497
ISO
RGD
PMID:31115562
RGD:126925181
NCBI chr10:55,450,171...55,450,239
Ensembl chr10:54,951,505...54,951,584
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Mir9-3
microRNA 9-3
exacerbates
ISO
DNA:Hypermethylation
RGD
PMID:22282464
RGD:153344598
NCBI chr 1:142,849,400...142,849,489
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Pole
DNA polymerase epsilon, catalytic subunit
ameliorates
ISO
DNA:mutations:multiple (human)
RGD
PMID:29650000
RGD:151347653
NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
mRNA:increased expression:lung (human)
RGD
PMID:32537022
RGD:151665184
NCBI chr 5:12,720,683...13,036,077
Ensembl chr 5:7,942,573...8,253,068
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Ptch1
patched 1
disease_progression
ISO
DNA:CNVs
RGD
PMID:21889114
RGD:150524337
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: Squamous cell lung carcinoma
ClinVar
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
severity
ISO
RGD
PMID:23906871
RGD:152176664
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15842656 PMID:15928039 PMID:16830086 PMID:18470943 PMID:18678287 PMID:19047918 PMID:19509418 PMID:21930766 PMID:23825065 PMID:24033266 PMID:25741868 PMID:26619011 PMID:27783593 PMID:28492532 More...
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
susceptibility severity
ISO
mRNA,protein:decreased expression:lung DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)
RGD
PMID:22245727 PMID:19672627 PMID:23906871
RGD:152176663 , RGD:152176665 , RGD:152176664
NCBI chr14:6,412,841...6,587,238
Ensembl chr14:6,108,211...6,282,563
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Ptprj
protein tyrosine phosphatase, receptor type, J
susceptibility
ISO
DNA:missense mutations:cds:p.R326Q, p.Q276P (human)
RGD
PMID:19672627
RGD:152176665
NCBI chr 3:96,861,785...97,017,702
Ensembl chr 3:76,405,927...76,562,260
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Rad52
RAD52 homolog, DNA repair protein
ameliorates susceptibility
ISO
DNA:SNP: (rs6489769) (human)
RGD
PMID:28415565 PMID:22585858
RGD:151660334 , RGD:151660345
NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:153,106,062...153,128,207
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Sftpb
surfactant protein B
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:variants:intron:
RGD
PMID:16570259 PMID:12107845
RGD:4143389 , RGD:151667424
NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:104,359,396...104,368,436
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Slc7a5
solute carrier family 7 member 5
ISO
RGD
PMID:19068093
RGD:151361158
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Sox30
SRY-box transcription factor 30
disease_progression
ISO
RGD
PMID:26330328
RGD:11535423
NCBI chr10:30,918,707...30,948,415
Ensembl chr10:30,418,473...30,446,453
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
severity
ISO
RGD
PMID:12826049
RGD:150521546
NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476
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Srsf1
serine and arginine rich splicing factor 1
ISO
protein:increased expression:lung epithelium
RGD
PMID:23071587
RGD:150429662
NCBI chr10:73,335,519...73,342,549
Ensembl chr10:72,839,274...72,845,336
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Srsf2
serine and arginine rich splicing factor 2
ISO
protein:increased expression:lung epithelium,nucleus
RGD
PMID:23071587
RGD:150429662
NCBI chr10:102,550,962...102,554,200
Ensembl chr10:102,052,314...102,055,338
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:15800014 PMID:17676035 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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Sult1a1
sulfotransferase family 1A member 1
ISO
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:14688021
RGD:1581441
NCBI chr 1:190,702,592...190,706,112
Ensembl chr 1:181,272,023...181,275,562
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP:: rs2853669(human) DNA:SNP::rs33963617(human)
RGD
PMID:23908149 PMID:31935503
RGD:150530498 , RGD:150530635
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:9839505 PMID:9979965 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22999923 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25186627 PMID:25293557 PMID:25339994 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25619955 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28176830 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30630526 PMID:30675318 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31206626 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33758026 PMID:34026625 PMID:34266904 PMID:34805717 PMID:35938033 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
treatment
ISO
DNA:SNP:: rs2273953(human) mRNA:increased expression:lung (human)
RGD
PMID:30420492 PMID:27246533
RGD:151347580 , RGD:151347584
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Acvr1b
activin A receptor type 1B
ameliorates
ISO
RGD
PMID:30061637
RGD:151665492
NCBI chr 7:134,164,987...134,208,389
Ensembl chr 7:132,286,275...132,329,673
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Ada
adenosine deaminase
treatment
ISO
RGD
PMID:17952507
RGD:152995277
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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Adamts2
ADAM metallopeptidase with thrombospondin type 1 motif, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26139392
NCBI chr10:35,422,030...35,627,483
Ensembl chr10:34,921,049...35,123,821
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Ago1
argonaute RISC component 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:144,006,618...144,064,740
Ensembl chr 5:138,722,111...138,773,546
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Ago2
argonaute RISC catalytic component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:106,907,209...106,994,124
Ensembl chr 7:105,029,120...105,104,974
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20682992
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24928783 PMID:25231345 PMID:26463840 PMID:26928227 PMID:29112861 PMID:24928783 More...
RGD:9586039
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Bcl10
BCL10, immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic
OMIM CTD ClinVar
PMID:9989495 PMID:10380920 PMID:10408400 PMID:25741868 PMID:28492532
NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16850164
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338
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Calb2
calbindin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
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Ccl27
C-C motif chemokine ligand 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506
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Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,016,446...67,018,303
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Ccne2
cyclin E2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:29,082,169...29,094,879
Ensembl chr 5:24,284,922...24,297,632
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:22002241
RGD:11522742
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr19:821,875...860,931
Ensembl chr19:815,411...854,368
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11453316
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223589 PMID:21526190 PMID:29112861 PMID:37441092
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cfap45
cilia and flagella associated protein 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr13:87,521,831...87,545,236
Ensembl chr13:84,981,728...85,012,878
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Cldn10
claudin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr15:102,269,858...102,361,589
Ensembl chr15:95,862,760...95,954,526
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Cldn15
claudin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr12:19,698,167...19,708,419
Ensembl chr12:19,698,337...19,706,819
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Cldn4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr12:27,388,160...27,389,958
Ensembl chr12:21,751,331...21,753,436
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Cldn5
claudin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr11:95,717,172...95,718,598
Ensembl chr11:82,211,475...82,214,992
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Cldn8
claudin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr11:27,875,857...27,878,106
Ensembl chr11:27,875,692...27,878,513
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Clec11a
C-type lectin domain containing 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
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Col12a1
collagen type XII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686
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Copg1
COPI coat complex subunit gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26463840
NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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Csf1
colony stimulating factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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Cxcl13
C-X-C motif chemokine ligand 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr14:13,912,858...13,917,920
Ensembl chr14:13,608,902...13,613,933
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr X:12,152,346...12,165,983
Ensembl chr X:9,479,532...9,493,168
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Ddx51
DEAD-box helicase 51
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr12:46,011,303...46,015,989
Ensembl chr12:46,011,070...46,016,200
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr14:106,811,769...106,890,961
Ensembl chr14:102,610,908...102,690,018
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Enox2
ecto-NOX disulfide-thiol exchanger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26807072
NCBI chr X:133,148,813...133,470,914
Ensembl chr X:128,271,074...128,593,039
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Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16697254
NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235
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F9
coagulation factor IX
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr X:143,388,642...143,433,143
Ensembl chr X:138,352,298...138,396,835
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Fgd6
FYVE, RhoGEF and PH domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:28,597,609...28,712,908
Ensembl chr 7:28,597,609...28,712,456
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Fgf18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:18,210,240...18,241,929
Ensembl chr10:17,706,174...17,736,818
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Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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Fth1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424
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Gpr27
G protein-coupled receptor 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:132,328,364...132,329,497
Ensembl chr 4:132,328,364...132,329,497
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Gpr37
G protein-coupled receptor 37
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:55,104,355...55,126,420
Ensembl chr 4:54,138,870...54,161,001
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion:cds (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16697254 PMID:7606714
RGD:7495814
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164
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Heph
hephaestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr X:65,160,628...65,412,457
Ensembl chr X:61,296,345...61,402,980
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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Htra1
HtrA serine peptidase 1
disease_progression
ISO
protein:increased expression:mesothelium (human)
RGD
PMID:18681782
RGD:152975625
NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:185,497,735...185,547,379
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Icam2
intercellular adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23621518
NCBI chr 4:79,391,367...79,525,923
Ensembl chr 4:78,060,494...78,194,865
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697
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Il3
interleukin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Ilk
integrin-linked kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23045294
NCBI chr 1:169,500,716...169,506,972
Ensembl chr 1:160,088,897...160,095,140
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Kat5
lysine acetyltransferase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26780987
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:202,895,751...202,903,458
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
G
Limch1
LIM and calponin homology domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr14:41,466,433...41,779,477
Ensembl chr14:41,114,803...41,425,191
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Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
G
Mcam
melanoma cell adhesion molecule
disease_progression
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22784439 PMID:23621518 PMID:23621518
RGD:7364782
NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:44,479,376...44,487,571
G
Mdk
midkine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:77,901,158...77,903,130
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
G
Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
G
Mir125a
microRNA 125a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:67,350,675...67,350,759
Ensembl chr 1:58,677,626...58,677,710
G
Mir126a
microRNA 126a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21483773
NCBI chr 3:29,813,150...29,813,267
Ensembl chr 3:9,415,063...9,415,180
G
Mir32
microRNA 32
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27716620
NCBI chr 5:71,596,083...71,596,152
Ensembl chr 5:71,596,083...71,596,152
G
Mir484
microRNA 484
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:1,394,905...1,394,981
Ensembl chr10:887,684...887,760
G
Mlana
melan-A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343
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Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19190155 PMID:27032653
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
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Mtmr4
myotubularin related protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:72,890,665...72,913,598
Ensembl chr10:72,392,551...72,416,342
G
Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733
G
Nanos1
nanos C2HC-type zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:259,897,663...259,901,561
Ensembl chr 1:259,897,939...259,898,730
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Nat2
N-acetyltransferase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16697254 PMID:15993904
RGD:5131858
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23435014 PMID:26463840 PMID:26678224 PMID:26928227 PMID:29112861 PMID:37441092 PMID:32271879 PMID:16166281 More...
RGD:150530636 , RGD:150530640
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
G
Osmr
oncostatin M receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 2:57,634,517...57,688,802
Ensembl chr 2:55,907,132...55,961,262
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21543585
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
G
Pdpn
podoplanin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656
G
Pllp
plasmolipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
G
Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:137,027,376...137,109,405
Ensembl chr 5:131,742,754...131,810,023
G
Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26935421
NCBI chr 1:192,032,124...192,033,419
Ensembl chr 1:182,601,174...182,602,955
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:150,352,158...150,412,813
Ensembl chr 4:148,679,530...148,740,317
G
Rxra
retinoid X receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:10,989,832...11,073,712
G
Ryr2
ryanodine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142
G
S100b
S100 calcium binding protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
G
Sdc1
syndecan 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:31,562,739...31,585,264
G
Sema4f
semaphorin 4F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:116,969,137...116,995,442
Ensembl chr 4:115,411,417...115,437,721
G
Serpina4
serpin family A member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 6:128,764,738...128,773,858
Ensembl chr 6:122,999,900...123,009,082
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:26928227 PMID:27834213
RGD:150429641
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
G
Setdb1
SET domain bifurcated histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 2:185,587,722...185,619,084
Ensembl chr 2:182,898,738...182,930,506
G
Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 9:63,986,829...64,026,723
Ensembl chr 9:56,492,403...56,532,300
G
Shbg
sex hormone binding globulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057
G
Slc22a5
solute carrier family 22 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,008,311...38,035,309
G
Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
G
Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:224,191,125...224,358,684
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20617513
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
G
Tbl1xr1
TBL1X/Y related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 2:106,718,811...106,857,989
Ensembl chr 2:104,801,721...104,929,055
G
Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511
G
Tfdp2
transcription factor Dp-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 8:105,640,018...105,781,026
Ensembl chr 8:96,760,504...96,896,682
G
Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:157,123,185...157,168,421
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227 PMID:37441092
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Traf7
TNF receptor associated factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203
G
Txn1
thioredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 5:77,507,455...77,519,685
Ensembl chr 5:72,711,933...72,724,629
G
Ulk2
unc-51 like autophagy activating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr10:46,951,038...47,029,844
Ensembl chr10:46,454,030...46,530,407
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187
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Wnt3
Wnt family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:89,180,224...89,224,195
Ensembl chr10:88,680,248...88,724,099
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mesothelioma, malignant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:8621495 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10094551 PMID:10505699 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22784439 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25349199 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36964972 PMID:36980135 More...
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Wwc1
WW and C2 domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:20,804,173...20,958,437
Ensembl chr10:20,300,833...20,454,497
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Xrcc1
X-ray repair cross complementing 1
treatment
ISO
RGD
PMID:22982660
RGD:151347428
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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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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Bap1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:27422796
RGD:127229946
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Birc7
baculoviral IAP repeat-containing 7
ameliorates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ameliorates
ISO
RGD
PMID:18722110
RGD:151667912
NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240
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Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:increased expression:peritoneum�� (human)
RGD
PMID:24722292
RGD:150524278
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Emx2
empty spiracles homeobox 2
exacerbates
ISO
mRNA:decreased expression:mesothelium of pleural cavity (human)
RGD
PMID:25023662
RGD:153323312
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
mRNA, protein:increased expression:pleura
RGD
PMID:22028491
RGD:126781718
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Il7r
interleukin 7 receptor
disease_progression
ISO
RGD
PMID:26155428
RGD:151347688
NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757
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Kdm6a
lysine demethylase 6A
ISO
mRNA:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:28197626
RGD:150429737
NCBI chr X:6,920,374...7,060,027
Ensembl chr X:4,337,750...4,477,062
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Mir192
microRNA 192
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir193a
microRNA 193a
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mir200b
microRNA 200b
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 5:171,931,495...171,931,589
Ensembl chr 5:166,649,272...166,649,366
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Mlh1
mutL homolog 1
disease_progression
ISO
RGD
PMID:23810210
RGD:126848799
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Ncoa2
nuclear receptor coactivator 2
ameliorates
ISO
protein:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:22011668
RGD:153002578
NCBI chr 5:10,618,712...10,852,776
Ensembl chr 5:5,835,706...6,067,451
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
ISO
DNA:loss of heterozygosity
RGD
PMID:27378628 PMID:26928227 PMID:26493618
RGD:150530638 , RGD:150429647 , RGD:11553131
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Rad21
RAD21 cohesin complex component
ISO
RGD
PMID:19380173
RGD:150520037
NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817
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Setd2
SET domain containing 2, histone lysine methyltransferase
disease_progression
ISO
DNA:mutations:CDS:multiple (human)
RGD
PMID:26928227 PMID:33691361
RGD:150429647 , RGD:150520202
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
protein:increased expression:pleura
RGD
PMID:22199264 PMID:24912849
RGD:151361201 , RGD:151660330
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Smo
smoothened, frizzled class receptor
disease_progression
ISO
DNA:missense mutations
RGD
PMID:23379358 PMID:33209614
RGD:150521620 , RGD:150521621
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
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Xiap
X-linked inhibitor of apoptosis
ameliorates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:15040115
RGD:8662355
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659810
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21642991 PMID:21874000 PMID:26119930 PMID:26719535
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Mesothelioma
ClinVar
PMID:9989495 PMID:10380920 PMID:10408400
NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523
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Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
mRNA:increased expression:mesothelium (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
G
Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:mesothelium (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11283936
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15639718
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18301454
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO IAGP
CTD Direct Evidence: marker/mechanism DNA:deletion
CTD RGD
PMID:18379362 PMID:20065947
RGD:7248760
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
IAGP
DNA:deletion
RGD
PMID:20065947
RGD:7248760
NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050
G
Dio2
iodothyronine deiodinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11425850
NCBI chr 6:115,396,308...115,410,594
Ensembl chr 6:109,665,523...109,679,809
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21787763
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15878867
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Eid1
EP300 interacting inhibitor of differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15920167
NCBI chr 3:133,376,389...133,378,108
Ensembl chr 3:112,922,668...112,924,752
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Ephx1
epoxide hydrolase 1
ISO
RGD
PMID:16697254
RGD:4889125
NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15639718 PMID:17659810 PMID:17659810
RGD:4892302
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
G
Fgf1
fibroblast growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15878867
NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357
G
Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15878867
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14569398 PMID:18038314
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
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Gdf10
growth differentiation factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18949431
NCBI chr16:9,237,182...9,250,537
Ensembl chr16:9,237,261...9,249,343
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Gpc3
glypican 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10656689
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15920167
NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402
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Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17290392
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12768194
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Itln1
intelectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15777968
NCBI chr13:86,464,641...86,490,655
Ensembl chr13:83,948,124...83,958,227
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Jmjd6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr10:102,539,935...102,545,986
Ensembl chr10:102,041,120...102,047,182
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Msln
mesothelin
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased secretion:body fluid
CTD RGD
PMID:11751476 PMID:18394747 PMID:20933535 PMID:17785569 PMID:18505465
RGD:2326062 , RGD:2326046
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358348
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18454162
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733
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Myo18b
myosin XVIIIb
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17294804
NCBI chr12:49,421,062...49,614,127
Ensembl chr12:43,747,010...43,953,695
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12136076 PMID:12168054 PMID:12802287 PMID:16166281 PMID:16319530 PMID:18835652 More...
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15920167
NCBI chr10:79,394,999...79,400,418
Ensembl chr10:78,897,770...78,903,538 Ensembl chr20:78,897,770...78,903,538
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Pdgfa
platelet derived growth factor subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11415934
NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497
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Pdgfc
platelet derived growth factor C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15920167
NCBI chr 2:168,613,409...168,791,575
Ensembl chr 2:166,316,803...166,493,433
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Pgr
progesterone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15639718
NCBI chr 8:14,354,398...14,413,271
Ensembl chr 8:6,072,673...6,131,344
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Ppp1r14a
protein phosphatase 1, regulatory (inhibitor) subunit 14A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18835652
NCBI chr 1:93,708,269...93,718,218
Ensembl chr 1:84,586,627...84,590,671
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Puf60
poly-U binding splicing factor 60
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21435101
NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531
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Rassf1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12082623 PMID:15639718
NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:108,225,023...108,236,164
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Slc6a20a
solute carrier family 6 member 20a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659810
NCBI chr 8:132,159,768...132,200,016
Ensembl chr 8:123,281,472...123,322,573
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9533946 PMID:11283936 PMID:15039138 PMID:17290392
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16221779 PMID:18550471
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
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Syk
spleen associated tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659810
NCBI chr17:12,756,493...12,830,927
Ensembl chr17:12,604,619...12,661,410
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Tnc
tenascin C
disease_progression
ISO
RGD
PMID:12605648 PMID:16928692
RGD:4889571 , RGD:4889612
NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151629
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Txnrd1
thioredoxin reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17316382
NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mesothelioma
ClinVar
PMID:4332312 PMID:8298644
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Xiap
X-linked inhibitor of apoptosis
ameliorates
ISO
mRNA:increased expression:mesothelium (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700
G
Xrcc1
X-ray repair cross complementing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16564556 PMID:20705543
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
G
Xrcc3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16564556
NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:130,863,959...130,872,444
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Metachondromatosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12739139 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:14991917 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16078230 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16172598 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16557282 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17972951 PMID:18080325 PMID:18241070 PMID:18253957 PMID:18260110 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18562489 PMID:18678287 PMID:18701506 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19352411 PMID:19449407 PMID:19509418 PMID:19568997 PMID:19621452 PMID:19651601 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19795160 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20543023 PMID:20577567 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21106241 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21396583 PMID:21407260 PMID:21526175 PMID:21533187 PMID:21548061 PMID:21567923 PMID:21590266 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23825065 PMID:23832011 PMID:23957426 PMID:23996481 PMID:24030381 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24896146 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25231023 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25595571 PMID:25612910 PMID:25695693 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25914815 PMID:25917897 PMID:26084119 PMID:26206283 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26377839 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26633542 PMID:26645620 PMID:26673822 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27030275 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27149842 PMID:27153395 PMID:27168466 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27460089 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:27884971 PMID:28051113 PMID:28074573 PMID:28135719 PMID:28191889 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28911804 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29212898 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29356064 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29620724 PMID:29625052 PMID:29693080 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30029678 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30325180 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30544257 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30693642 PMID:30732632 PMID:30784236 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31164752 PMID:31219622 PMID:31292302 PMID:31324109 PMID:31370276 PMID:31446693 PMID:31560489 PMID:31564432 PMID:31573083 PMID:31637070 PMID:31722741 PMID:31827275 PMID:31941532 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32368696 PMID:32371413 PMID:32410215 PMID:32581362 PMID:32719394 PMID:32737134 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:32963807 PMID:33091040 PMID:33258288 PMID:33300679 PMID:33318624 PMID:33568805 PMID:33726816 PMID:33811550 PMID:33850299 PMID:34006472 PMID:34008892 PMID:34143244 PMID:34194850 PMID:34356170 PMID:34411415 PMID:34782754 PMID:34974531 PMID:35418823 PMID:35858754 PMID:35885957 PMID:35904599 PMID:35979676 PMID:36135330 PMID:36304179 PMID:36474027 PMID:36567979 PMID:36939041 PMID:37019085 PMID:37493574 PMID:37525886 PMID:37568403 PMID:37605180 PMID:37923938 PMID:37987971 PMID:38318288 PMID:38413718 PMID:38540404 More...
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Rpl6
ribosomal protein L6
ISO
ClinVar Annotator: match by term: Metachondromatosis
ClinVar
NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921
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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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Daxx
death-domain associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843
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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
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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
Ext1
exostosin glycosyltransferase 1
ISO
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
OMIM ClinVar
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:18165274 PMID:18330718 PMID:19810120 PMID:20418910 PMID:21039224 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26690531 PMID:26961984 PMID:28492532 PMID:28600779 PMID:29126381 PMID:29529714 PMID:30334991 PMID:30806661 PMID:33726816 PMID:37317574 PMID:37352859 More...
NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357
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Ext2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
ClinVar
PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059
G
Ext2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2
OMIM ClinVar
PMID:3080661 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 PMID:10671060 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11169766 PMID:11432960 PMID:11668521 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15586175 PMID:15796962 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18373409 PMID:18666861 PMID:18976157 PMID:19309273 PMID:19344451 PMID:19504431 PMID:19810120 PMID:19839753 PMID:20425833 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:24728384 PMID:25230886 PMID:25449079 PMID:25468659 PMID:25591329 PMID:25640679 PMID:25741868 PMID:25744876 PMID:26246518 PMID:26402641 PMID:26961984 PMID:27748933 PMID:28492532 PMID:28690282 PMID:28849184 PMID:29126381 PMID:29529714 PMID:29625052 PMID:30075207 PMID:30288735 PMID:30334991 PMID:30544257 PMID:30806661 PMID:30997052 PMID:31030431 PMID:31096510 PMID:32293802 PMID:34070849 PMID:34092239 PMID:34403521 PMID:38351015 More...
NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059
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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
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Nlrp1a
NLR family, pyrin domain containing 1A
ISO
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
ClinVar OMIM
PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 PMID:27662089 PMID:28492532 More...
NCBI chr10:56,277,134...56,332,229
Ensembl chr10:55,778,560...55,825,180
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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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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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Cluap1
clusterin associated protein 1
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:26820066
NCBI chr10:12,094,346...12,159,440
Ensembl chr10:11,588,017...11,619,711
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
OMIM ClinVar
PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 PMID:12110640 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18456719 PMID:18628094 PMID:19047918 PMID:19358724 PMID:20147967 PMID:20570890 PMID:20652921 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21063026 PMID:21079152 PMID:21371307 PMID:22499344 PMID:22571758 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24033266 PMID:24629489 PMID:24720724 PMID:24803665 PMID:25251940 PMID:25623042 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26242988 PMID:26521233 PMID:26861459 PMID:26970110 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30289595 PMID:30443000 PMID:30448735 PMID:30544177 PMID:30891959 PMID:30902772 PMID:31891627 PMID:32934698 PMID:34114335 PMID:34117033 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
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Nlrp5
NLR family, pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:20738330 PMID:26323243
NCBI chr 1:76,811,044...76,872,964
Ensembl chr 1:67,777,948...68,023,736
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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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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
severity
ISO
DNA:mutations
RGD
PMID:16676365
RGD:126925209
NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065
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Ada
adenosine deaminase
disease_progression
ISO
RGD
PMID:27221867
RGD:152995268
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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Agap2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr 7:64,782,618...64,799,624
Ensembl chr 7:62,897,282...62,914,295
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
protein:increased expression:oral epithelium
RGD
PMID:30981761
RGD:597538586
NCBI chr 1:227,426,939...227,579,497
Ensembl chr 1:218,042,127...218,152,961
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Angpt1
angiopoietin 1
ISO
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067
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Angpt2
angiopoietin 2
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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Arid2
AT-rich interaction domain 2
disease_progression
ISO
RGD
PMID:31918270
RGD:150340710
NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:127,447,278...127,563,512
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Arpc1b
actin related protein 2/3 complex, subunit 1B
severity
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26138391
RGD:11046268
NCBI chr12:14,595,939...14,609,501
Ensembl chr12:9,480,831...9,495,747
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Atm
ATM serine/threonine kinase
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356 PMID:18288488
RGD:150340604 , RGD:150340709
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Atp6v1c1
ATPase H+ transporting V1 subunit C1
ISO
RGD
PMID:26984774
RGD:14700648
NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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Axin1
axin 1
disease_progression
ISO
protein:decreased expression:oral epithelium (human) mRNA:increased expression:oral epithelium (human)
RGD
PMID:17143481 PMID:21393552
RGD:150530474 , RGD:150530486
NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615
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Axin2
axin 2
susceptibility ameliorates disease_progression
ISO
DNA:SNP:intron: C>T (rs3923087)(human)
RGD
PMID:21393552 PMID:33046030 PMID:33046030
RGD:150530486 , RGD:151356656 , RGD:151356656
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
protein:increased expression:saliva protein:decreased expression:saliva
RGD
PMID:29199150 PMID:33564003
RGD:153350131 , RGD:153350144
NCBI chr12:22,044,685...22,051,248
Ensembl chr12:16,931,024...16,939,091
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Barhl2
BarH-like homeobox 2
ISO
protein:decreased expression:mouth mucosa
RGD
PMID:27542258
RGD:14390167
NCBI chr14:3,485,309...3,490,206
Ensembl chr14:3,340,465...3,345,353
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Bcl2l1
Bcl2-like 1
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
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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Bhlhe41
basic helix-loop-helix family, member e41
treatment
ISO
Human cells in mouse model
RGD
PMID:27602964
RGD:151665310
NCBI chr 4:180,565,003...180,569,415
Ensembl chr 4:178,834,271...178,838,468
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Birc2
baculoviral IAP repeat-containing 2
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
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
disease_progression ameliorates
ISO
protein:increased expression:oral cavity (human) mRNA:increased expression:oral cavity (human) protein:decreased expression:oral cavity (human)
RGD
PMID:23852810 PMID:20967871 PMID:29286141 PMID:21952624
RGD:152998980 , RGD:152999012 , RGD:152999009 , RGD:152998987
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Brinp2
BMP/retinoic acid inducible neural specific 2
ISO
DNA:amplication:oral epithelium
RGD
PMID:21334929
RGD:14398483
NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
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Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:24706327
RGD:14398491
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,217,407...18,220,979
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Btk
Bruton tyrosine kinase
treatment
ISO
mRNA:increased expression:oral epithelium (human)
RGD
PMID:33640903
RGD:151347851
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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Calr
calreticulin
exacerbates
ISO
protein:increased expression:oral epithelium (human) protein:increased expression:mouth (human)
RGD
PMID:23375593 PMID:28599487
RGD:150521688 , RGD:150520158
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:30205384
RGD:18337270
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:150,673,507...150,676,600
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Car12
carbonic anhydrase 12
disease_progression
ISO
RGD
PMID:22172588
RGD:153352330
NCBI chr 8:76,169,723...76,225,465
Ensembl chr 8:67,274,359...67,330,440
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Cbx2
chromobox 2
disease_progression
ISO
RGD
PMID:24885002
RGD:9586732
NCBI chr10:104,777,054...104,785,922
Ensembl chr10:104,278,549...104,287,383
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Ccl2
C-C motif chemokine ligand 2
susceptibility disease_progression
ISO IEP
DNA:polymorphism,haplotype::2518A>G(human) associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:21883707 PMID:33411841
RGD:8661694 , RGD:152998999
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:21883707
RGD:8661694
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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Cdc73
cell division cycle 73
ISO
mRNA:altered expression: tongue, oral cavity (human)
RGD
PMID:24257751
RGD:150537040
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
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Cdh1
cadherin 1
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
susceptibility no_association disease_progression
ISO
DNA:polymorphism:exon:149A>G(human) DNA:polymorphism: :98C>A(human)
RGD
PMID:10873097 PMID:18251939 PMID:15817070 PMID:10873097
RGD:8662371 , RGD:8662395 , RGD:8662374 , RGD:8662371
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cers1
ceramide synthase 1
exacerbates
ISO
RGD
PMID:33753723
RGD:156431057
NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,104,466...19,112,519
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Chaf1b
chromatin assembly factor 1 subunit B
disease_progression
ISO
protein:increased expression:mouth mucosa:
RGD
PMID:22882088
RGD:9587477
NCBI chr11:46,670,560...46,690,739
Ensembl chr11:33,200,981...33,221,070
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Clptm1l
CLPTM1-like
susceptibility
ISO
DNA:SNP: :rs402710(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530
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Ctnnd1
catenin delta 1
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr 3:90,090,025...90,141,247
Ensembl chr 3:69,683,313...69,734,516
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:22660220
RGD:14700952
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:exon: (rs2296241) (human)
RGD
PMID:22612324
RGD:151665337
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:22954124
RGD:14700880
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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Daxx
death-domain associated protein
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:26205068
RGD:152025200
NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843
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Ddr1
discoidin domain receptor tyrosine kinase 1
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:31253192
RGD:151347620
NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,044,320...3,064,468
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Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
RGD
PMID:29945346
RGD:150429700
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:24625449 PMID:24625449
RGD:9589120 , RGD:9589120
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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Dock6
dedicator of cytokinesis 6
disease_progression
ISO
RGD
PMID:34742001
RGD:155791563
NCBI chr 8:28,618,523...28,670,741
Ensembl chr 8:20,342,089...20,394,552
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Efnb2
ephrin B2
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391
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Egfr
epidermal growth factor receptor
ISO
RGD
PMID:11673832
RGD:126781761
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:11673832
RGD:126781761
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:14595263
RGD:126781770
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
susceptibility
ISO
associated with oral mucosa leukoplakia DNA:SNPs, haplotypes: :multiple
RGD
PMID:24122997 PMID:21697275 PMID:26807327
RGD:126779588 , RGD:126781699 , RGD:126779606
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Fat1
FAT atypical cadherin 1
onset
ISO
protein:increased expression:tongue (mouse) DNA:mutations:multiple
RGD
PMID:30624777 PMID:28435450
RGD:151347668 , RGD:151347687
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107
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Fgfr3
fibroblast growth factor receptor 3
ISO
associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)
RGD
PMID:30563911
RGD:38500239
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
severity
ISO
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:20127014
RGD:150520164
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA:decreased expression:oral epithelium (human)
RGD
PMID:32048621
RGD:149735374
NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:27375172
RGD:13792673
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
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Gpx1
glutathione peroxidase 1
exacerbates
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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Gpx4
glutathione peroxidase 4
disease_progression
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 7:10,300,833...10,303,629
Ensembl chr 7:9,650,185...9,652,982
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Gsk3b
glycogen synthase kinase 3 beta
susceptibility
ISO
DNA:SNP:intron: (rs9879992) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: : (human)
RGD
PMID:22213390 PMID:14662415
RGD:12792245 , RGD:14700962
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
mRNA,protein:decreased expression:mucosa:
RGD
PMID:16982972
RGD:10755432
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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H2ax
H2A.X variant histone
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
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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Hes1
hes family bHLH transcription factor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
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Hp
haptoglobin
ISO
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
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Il10
interleukin 10
susceptibility
ISO
DNA:SNP:promoter:-592A>C (human)
RGD
PMID:28157558
RGD:14975130
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:19065664
RGD:8549498
NCBI chr X:115,814,620...115,886,080
Ensembl chr X:111,002,592...111,072,381
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Il1b
interleukin 1 beta
disease_progression
IEP
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
RGD
PMID:10389944
RGD:8662949
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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Il6
interleukin 6
disease_progression
ISO
RGD
PMID:24625449
RGD:9589120
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)
RGD
PMID:28155253
RGD:151347666
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
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Kmt2d
lysine methyltransferase 2D
severity
ISO
RGD
PMID:31660637
RGD:150521713
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Mcph1
microcephalin 1
ISO
mRNA:protein:decreased expression:oral cavity, tissue (human)
RGD
PMID:23472065
RGD:9589036
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression, altered expression:mouth mucosa:
RGD
PMID:20662906
RGD:8548617
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:30194167 PMID:28413645 PMID:29909906
RGD:21079420 , RGD:24922225 , RGD:21079468
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Mir187
microRNA 187
ISO
RNA:increased expression:plasma
RGD
PMID:27542258
RGD:14390167
NCBI chr18:16,005,947...16,006,050
Ensembl chr18:15,731,194...15,731,297
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Mir20a
microRNA 20a
ISO
RGD
PMID:26781875
RGD:26884343
NCBI chr15:98,588,303...98,588,387
Ensembl chr15:92,181,084...92,181,168
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Mir221
microRNA 221
exacerbates
ISO
RGD
PMID:21226887
RGD:151708999
NCBI chr X:6,023,182...6,023,290
Ensembl chr X:3,429,465...3,429,573
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Mir222
microRNA 222
disease_progression exacerbates
ISO
RGD
PMID:31841247 PMID:21226887
RGD:151708741 , RGD:151708999
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
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Mir31
microRNA 31
treatment
ISO
RGD
PMID:20233326
RGD:153297767
NCBI chr 5:108,714,849...108,714,954
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:missense mutation:cds:677C>T (human)
RGD
PMID:16365753
RGD:10449416
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Naip6
NLR family, apoptosis inhibitory protein 6
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:31,507,424...31,570,542
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Notch1
notch receptor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
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Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520
RGD:8547730
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775
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Plcg1
phospholipase C, gamma 1
disease_progression ameliorates
ISO
protein:decreased expression:oral cavity (human)
RGD
PMID:26464646 PMID:25085076
RGD:11526681 , RGD:151356936
NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330
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Prdx2
peroxiredoxin 2
ISO
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:40,085,788...40,091,083
Ensembl chr19:23,180,930...23,186,194
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Pten
phosphatase and tensin homolog
disease_progression
ISO
protein:increased expression:oral epithelium (human)
RGD
PMID:33109573
RGD:127285606
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptgis
prostaglandin I2 synthase
ISO
mRNA,protein:decreased expression:mouth mucosa (human)
RGD
PMID:30532780
RGD:151347832
NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
treatment
ISO
RGD
PMID:21176871
RGD:152600900
NCBI chr14:6,412,841...6,587,238
Ensembl chr14:6,108,211...6,282,563
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Rad21
RAD21 cohesin complex component
exacerbates
ISO
mRNA:decreased expression:oral cavity (human)
RGD
PMID:16416296
RGD:150520028
NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
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Serpine1
serpin family E member 1
severity disease_progression
ISO
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520 PMID:24999729
RGD:8547730 , RGD:13208508
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Skp2
S-phase kinase associated protein 2
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:24743017
RGD:151665336
NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338
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Slc7a5
solute carrier family 7 member 5
severity
ISO
RGD
PMID:23801167
RGD:151361213
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Sox2
SRY-box transcription factor 2
ISO
protein:increased expression:oral epithelium
RGD
PMID:30981761
RGD:597538586
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNPs: :rs2736100,rs2736098(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
protein:decreased expression:oral epithelium (human)
RGD
PMID:24122999
RGD:150429611
NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534
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Tnf
tumor necrosis factor
disease_progression
IEP
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ISO
DNA:missense mutations: :multiple protein:increased expression:mouth (human)
RGD
PMID:27283772 PMID:34111459
RGD:14995497 , RGD:153344573
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Ttr
transthyretin
ISO
protein:increased expression:saliva (human)
RGD
PMID:23784731
RGD:151664609
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Wnt11
Wnt family member 11
susceptibility
ISO
DNA:SNP:exon: A>G (rs1533767) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr 1:162,545,660...162,565,456
Ensembl chr 1:153,138,197...153,154,294
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20577567
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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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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Rspo1
R-spondin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition
OMIM CTD ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532
NCBI chr 5:142,536,162...142,557,611
Ensembl chr 5:137,251,659...137,272,933
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Tgfb2
transforming growth factor, beta 2
ameliorates
ISO
human cells in a mouse model
RGD
PMID:21366804
RGD:155630611
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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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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Kiss1r
KISS1 receptor
ISO
RGD
PMID:11994395
RGD:1599280
NCBI chr 7:10,435,766...10,439,424
Ensembl chr 7:9,785,135...9,788,793
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Vegfc
vascular endothelial growth factor C
disease_progression
ISO
associated with thyroid diseases;mRNA:increased expression:thyroid gland:
RGD
PMID:12203051
RGD:7483611
NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:kidney (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
mRNA:increased expression:kidney (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22876591 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31277584 PMID:31779674 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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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 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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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 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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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1
ClinVar OMIM
PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 PMID:9731534 PMID:9826708 PMID:10327054 PMID:10417759 PMID:10433944 PMID:11042681 PMID:11354004 PMID:11750879 PMID:11927612 PMID:12920089 PMID:14559814 PMID:15371818 PMID:15592501 PMID:15735036 PMID:16189274 PMID:16434318 PMID:17483355 PMID:17576681 PMID:18564920 PMID:19318576 PMID:19723643 PMID:20126411 PMID:20670955 PMID:20949619 PMID:21774103 PMID:21970370 PMID:22703879 PMID:23213094 PMID:23806086 PMID:24033266 PMID:24061647 PMID:24088041 PMID:24121490 PMID:24339735 PMID:24728327 PMID:25157968 PMID:25605252 PMID:25637381 PMID:25640679 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26173098 PMID:26467025 PMID:26718692 PMID:26887047 PMID:27153395 PMID:27666373 PMID:28166811 PMID:28259294 PMID:28294470 PMID:28476232 PMID:28492532 PMID:28619094 PMID:28873162 PMID:29084058 PMID:29202410 PMID:29360161 PMID:29641532 PMID:29684080 PMID:30093976 PMID:30530636 PMID:32934698 PMID:33255238 More...
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mir210
microRNA 210
ISO
miRNA:increased expression:kidney (human)
RGD
PMID:23449350
RGD:155260320
NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454
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Prcc
proline rich mitotic checkpoint control factor
ISO
OMIM
NCBI chr 2:175,624,134...175,649,664
Ensembl chr 2:173,326,259...173,351,825
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1
ClinVar
PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8270255 PMID:8522307 PMID:8592333 PMID:8730290 PMID:8956040 PMID:9156047 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:10900011 PMID:11921283 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:14973063 PMID:15300849 PMID:17102069 PMID:18446368 PMID:18836774 PMID:19270817 PMID:19464396 PMID:19574279 PMID:19602254 PMID:20120764 PMID:20660572 PMID:21362373 PMID:21463266 PMID:22799452 PMID:23512077 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25119015 PMID:25157968 PMID:25563310 PMID:25720320 PMID:25741868 PMID:25867206 PMID:26822237 PMID:27527340 PMID:27539324 PMID:27617348 PMID:28492532 PMID:28944243 PMID:29616089 PMID:30042107 PMID:33720516 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Xiap
X-linked inhibitor of apoptosis
exacerbates
ISO
mRNA:increased expression:kidney (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12151359 PMID:11684723 PMID:10430900
RGD:8662351 , RGD:8662432
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Egfr
epidermal growth factor receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8603490 PMID:10943841
RGD:734919
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8330346
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Map2k4
mitogen activated protein kinase kinase 4
ISO
RGD
PMID:20610622
RGD:7495823
NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993
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Mmp2
matrix metallopeptidase 2
treatment
ISO
associated with Skin Neoplasms
RGD
PMID:20619141
RGD:8657035
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9496914
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Odc1
ornithine decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17928125
NCBI chr 6:46,058,439...46,065,148
Ensembl chr 6:40,329,964...40,336,440
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Pla2g4a
phospholipase A2 group 4A
IEP
associated with Bladder Neoplasms;mRNA:increased expression:bladder
RGD
PMID:16621493
RGD:1642457
NCBI chr13:64,427,921...64,572,352
Ensembl chr13:61,877,813...62,022,266
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Ptges
prostaglandin E synthase
IEP
mRNA:increased expression:urinary bladder
RGD
PMID:16621493
RGD:1642457
NCBI chr 3:34,575,643...34,586,987
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:16144915
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11507057
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sprr1a
small proline-rich protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8617999
NCBI chr 2:180,750,709...180,752,625
Ensembl chr 2:178,055,096...178,057,063
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490
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
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20172950 PMID:7954410
RGD:7394796
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tyr
tyrosinase
treatment
ISO
RGD
PMID:15007389
RGD:8694346
NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207
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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
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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
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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
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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
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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
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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
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640
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Lats2
large tumor suppressor kinase 2
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr15:35,940,632...35,992,225
Ensembl chr15:31,825,092...31,877,220
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590
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Traf7
TNF receptor associated factor 7
ISO
DNA:missense mutations:multiple
RGD
PMID:30171198
RGD:151356964
NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203
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Clptm1l
CLPTM1-like
sexual_dimorphism
ISO
in males;DNA:SNP: :rs401681(human)
RGD
PMID:31429604
RGD:150530637
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530
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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
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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
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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
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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
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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
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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
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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
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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
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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
G
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
G
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
G
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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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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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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
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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
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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
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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
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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
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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
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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
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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
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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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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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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Ring dermoid of cornea CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15378534 PMID:15591271 PMID:21052876 PMID:22224469 PMID:22569110 PMID:25741868 PMID:26220699 PMID:27013732 PMID:28492532 PMID:29664915 PMID:32499604 PMID:35882526 More...
NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
IAGP
DNA:deletion
RGD
PMID:20065947
RGD:7248760
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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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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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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Daxx
death-domain associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843
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Rnf43
ring finger protein 43
ISO
ClinVar Annotator: match by term: RNF43-related condition | ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome DNA:nonsense mutation:CDS:p.R113X (human)
OMIM ClinVar RGD
PMID:9536098 PMID:17576681 PMID:22552244 PMID:24512911 PMID:25741868 PMID:27081527 PMID:27582512 PMID:28492532 PMID:28767289 PMID:29330307 PMID:30862463 PMID:35907983 PMID:24512911 More...
RGD:11552863
NCBI chr10:72,958,744...73,034,540
Ensembl chr10:72,464,348...72,536,977
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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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Ctcf
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr19:50,431,478...50,481,013
Ensembl chr19:33,529,319...33,571,123
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Ddx5
DEAD-box helicase 5
ISO
protein:increased expression:foreskin (human)
RGD
PMID:22548649
RGD:9850272
NCBI chr10:92,224,393...92,231,928
Ensembl chr10:91,723,508...91,732,283
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Fat1
FAT atypical cadherin 1
disease_progression
ISO
associated with Neoplasm Metastasis
RGD
PMID:33328637
RGD:151347447
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107
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Fgf10
fibroblast growth factor 10
ISO
Pten conditional KO 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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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISS
MouseDO
NCBI chr20:44,322,635...44,514,498
Ensembl chr20:42,766,369...42,959,911
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Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
DNA:mutation:cds: p.Ala40Glu (human) DNA:mutation:cds: p.Ser24Phe(human)
RGD
PMID:30972880 PMID:25194279
RGD:28867225 , RGD:28867226
NCBI chr 3:126,254,633...126,274,412
Ensembl chr 3:105,800,954...105,820,715
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Pten
phosphatase and tensin homolog
ameliorates
ISO
RGD
PMID:24582960
RGD:126928134
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
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Myc
MYC proto-oncogene, bHLH transcription factor
severity
ISO
mRNA:increased expression:renal cortex (human) protein:increased expression:kidney (human)
RGD
PMID:19384955 PMID:17409424
RGD:7240562 , RGD:7240563
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Adam19
ADAM metallopeptidase domain 19
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr10:30,992,713...31,084,455
Ensembl chr10:30,491,405...30,583,105
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Adamtsl3
ADAMTS-like 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:145,698,004...146,006,195
Ensembl chr 1:136,288,793...136,596,986
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Afap1l2
actin filament associated protein 1-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29059373
NCBI chr 1:265,969,368...266,065,951
Ensembl chr 1:255,964,238...256,060,820
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:21351258 PMID:27993330
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15274141 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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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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Anxa5
annexin A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Aqp3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720
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Areg
amphiregulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11237771
NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Bcl2
BCL2, apoptosis regulator
disease_progression
IEP
Protein:increased expression:tongue;associated with mouth neoplasms
RGD
PMID:16309543
RGD:1599477
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Cav1
caveolin 1
ISO
RGD
PMID:23267770
RGD:8661786
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25199511
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccnd1
cyclin D1
susceptibility
ISO
associated with Cervix Neoplasms;DNA:polymorphism: :870A>G CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26432044 PMID:18548202
RGD:2296032
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
associated with Varicose Ulcer;protein:increased expression:skin:
RGD
PMID:9655223 PMID:11028856
RGD:8662356 , RGD:8662856
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:transitions: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25125259 PMID:15057871
RGD:8552295
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
protein:decreased expression:skin
RGD
PMID:18564286
RGD:8548686
NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050
G
Cebpa
CCAAT/enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17510391 PMID:21346772
NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412
G
Cfh
complement factor H
ISO
mRNA:increased expression:skin
RGD
PMID:23938460
RGD:8662319
NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
G
Chrna3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 8:64,297,755...64,311,251
Ensembl chr 8:55,401,702...55,415,165
G
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146
G
Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
G
Clu
clusterin
severity
ISO
RGD
PMID:15126350
RGD:8936706
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
G
Cryab
crystallin, alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157
G
Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:140,709,991...140,756,696
G
Csnk2a2
casein kinase 2 alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr19:9,562,340...9,602,136
Ensembl chr19:9,556,260...9,596,080
G
Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,698,733...3,707,133
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :rs3087243(human)
RGD
PMID:19622768
RGD:7411686
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
G
Cttn
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27148699
NCBI chr 1:209,029,048...209,064,577
Ensembl chr 1:199,599,710...199,635,164
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22072123
NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22114726
NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917
G
Dspp
dentin sialophosphoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21103065
NCBI chr14:5,870,232...5,876,339
Ensembl chr14:5,565,629...5,571,672
G
Dusp1
dual specificity phosphatase 1
ISO
mRNA:increased expression:saliva
RGD
PMID:23892499
RGD:7771538
NCBI chr10:17,184,853...17,187,646
G
Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:12942316 PMID:22042947 PMID:22948846 PMID:27993330
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
G
Egr1
early growth response 1
ISO
mRNA:decreased expression:tumor (human) ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar RGD
PMID:27993330 PMID:11948124
RGD:5131942
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
G
Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336 Ensembl chr 3:160,719,951...160,731,336
G
Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687452
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
severity
ISO
associated with Cockayne Syndrome
RGD
PMID:9150142
RGD:10401099
NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587
G
Fam13a
family with sequence similarity 13, member A
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:89,386,685...89,485,940
Ensembl chr 4:88,058,403...88,155,860
G
Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
ClinVar
PMID:10620127
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fgf7
fibroblast growth factor 7
ISO
cervical squamous cell carcinoma
RGD
PMID:17306351
RGD:2289084
NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:113,281,283...113,332,929
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22286583 PMID:27794399
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
G
Fgfr2
fibroblast growth factor receptor 2
ISO
cervical squamous cell carcinoma
RGD
PMID:17306351
RGD:2289084
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
G
Fhit
fragile histidine triad diadenosine triphosphatase
ISO
cervical squamous cell carcinoma
RGD
PMID:17467893
RGD:2289871
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
G
Foxa1
forkhead box A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32717239
NCBI chr 6:80,838,380...80,871,195
Ensembl chr 6:75,103,503...75,136,188
G
Foxp2
forkhead box P2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15557674
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
G
Grep1
glycine rich extracellular protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34652879
NCBI chr10:12,727,164...12,748,629
Ensembl chr10:12,727,166...12,741,819
G
Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22072123
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
ISO
RGD
PMID:11511301
RGD:6906882
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Hcar2
hydroxycarboxylic acid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21655214
NCBI chr12:32,726,252...32,728,238
Ensembl chr12:32,726,184...32,728,504
G
Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111
G
Hdac2
histone deacetylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21273587
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
G
Hras
HRas proto-oncogene, GTPase
ISO
associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24224046 PMID:25125259 PMID:8453633
RGD:10412316
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
G
Hspa8
heat shock protein family A (Hsp70) member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259
G
Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743
G
Htr4
5-hydroxytryptamine receptor 4
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr18:58,036,277...58,221,327
Ensembl chr18:55,766,725...55,949,321
G
Il2
interleukin 2
treatment
ISO
RGD
PMID:11023201
RGD:8663457
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26372664
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Ing1
inhibitor of growth family, member 1
ISO
squamous cell carcinoma of the head and neck, OMIM:275355
RGD
PMID:10866301
RGD:1600155
NCBI chr16:84,639,378...84,649,498
Ensembl chr16:77,937,279...77,946,264
G
Inpp5a
inositol polyphosphate-5-phosphatase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25759212
NCBI chr 1:203,619,676...203,810,035
Ensembl chr 1:194,190,393...194,380,428
G
Irak1
interleukin-1 receptor-associated kinase 1
disease_progression
ISO
RGD
PMID:24302991
RGD:7495785
NCBI chr X:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521
G
Itga5
integrin subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 7:136,358,097...136,381,305
Ensembl chr 7:134,478,968...134,502,837
G
Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195
G
Ivl
involucrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 2:180,842,307...180,854,646
Ensembl chr 2:178,147,061...178,149,100
G
Kdr
kinase insert domain receptor
ISO
RGD
PMID:16251423
RGD:8551848
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Kitlg
KIT ligand
ISO
Squamous cell carcinoma of the digit
OMIA
PMID:1399782 PMID:2800263 PMID:6354679 PMID:6731733 PMID:7657570 PMID:16231717 PMID:17609360 PMID:23555311 PMID:24936030 PMID:26699508 PMID:36851392 PMID:36851451 PMID:38785565 More...
NCBI chr 7:36,782,621...36,863,796
Ensembl chr 7:34,896,053...34,977,214
G
Klf5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445
G
Kmt2c
lysine methyltransferase 2C
severity
ISO
DNA:mutations:multiple (human)
RGD
PMID:25303977
RGD:9588232
NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539
G
Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25194279
NCBI chr 3:126,254,633...126,274,412
Ensembl chr 3:105,800,954...105,820,715
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19435901 PMID:25125259
NCBI chr 4:179,916,255...179,949,613
G
Krt1
keratin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 7:134,855,311...134,860,537
Ensembl chr 7:132,976,620...132,981,844
G
Krt10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr10:84,834,865...84,839,160
Ensembl chr10:84,338,706...84,343,701
G
Krt14
keratin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr10:85,638,182...85,642,450
Ensembl chr10:85,066,802...85,171,799
G
Lgals7
galectin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 1:93,275,092...93,279,529
Ensembl chr 1:84,150,252...84,152,015
G
Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28945253
NCBI chr13:48,976,193...49,095,870
Ensembl chr13:46,424,383...46,543,945
G
Loricrin
loricrin cornified envelope precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 2:180,253,674...180,256,572
Ensembl chr 2:177,558,252...177,559,807
G
Lta4h
leukotriene A4 hydrolase
IEP
protein:increased expression:tongue, carcinoma, stroma (rat)
RGD
PMID:17985342
RGD:2316582
NCBI chr 7:29,856,846...29,888,642
Ensembl chr 7:27,969,789...28,001,600
G
Lzts1
leucine zipper tumor suppressor 1
ISO
esophageal squamous cell carcinoma, OMIM:133239
RGD
PMID:10097140
RGD:1600104
NCBI chr16:25,309,502...25,364,942
Ensembl chr16:20,542,809...20,598,203
G
Mal
mal, T-cell differentiation protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19445022
NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136
G
Manf
mesencephalic astrocyte-derived neurotrophic factor
susceptibility
ISO
RGD
PMID:8971156
RGD:1599219
NCBI chr 8:116,427,053...116,430,259
Ensembl chr 8:107,548,352...107,551,438
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
G
Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22948846
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
G
Mir205
microRNA 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21563230
NCBI chr13:107,564,535...107,564,642
Ensembl chr13:105,035,878...105,035,985
G
Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:nasal mucosa
RGD
PMID:21624249
RGD:8657057
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:middle ear CTD Direct Evidence: marker/mechanism protein:increased expression:nasal mucosa mRNA:increased expression:tongue
CTD RGD
PMID:18572023 PMID:22178867 PMID:21624249 PMID:18254958 PMID:11081634
RGD:8547836 , RGD:8657057 , RGD:8547895 , RGD:8547854
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Mrpl13
mitochondrial ribosomal protein L13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 7:88,841,265...88,862,821
Ensembl chr 7:86,951,541...86,973,577
G
Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22514692
NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512
G
Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:17418620
NCBI chr19:10,831,959...10,832,975
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X:10,826,032...10,827,049
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:17627246
RGD:6893580
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
G
Ncoa3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852035
NCBI chr 3:175,157,824...175,237,831
Ensembl chr 3:154,738,581...154,818,594
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
G
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:73,996,601...73,999,791
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
G
Nme1
NME/NM23 nucleoside diphosphate kinase 1
severity
ISO
protein:decreased expression:tumor (human)
RGD
PMID:8978595
RGD:5133245
NCBI chr10:79,403,939...79,426,620
Ensembl chr10:78,906,083...78,916,408
G
Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
G
Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088
G
Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
G
Notch4
notch receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
G
Oca2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:missense mutation:cds:p.A481T (rs74653330) (human)
RGD
PMID:24617981
RGD:9491831
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Ogg1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:16024598
RGD:8657138
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Pgam1
phosphoglycerate mutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 1:250,673,152...250,680,762
Ensembl chr 1:240,723,920...240,738,452
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24224046
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Plau
plasminogen activator, urokinase
severity
ISO
mRNA:increased expression:oral cavity (human)
RGD
PMID:12866027
RGD:7241134
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775
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Ppia
peptidylprolyl isomerase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:81,275,091...81,299,601
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr11:98,544,952...98,762,499
Ensembl chr11:85,040,792...85,257,952
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Prtfdc1
phosphoribosyl transferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17599052
NCBI chr17:88,457,872...88,563,109
Ensembl chr17:83,548,803...83,655,179
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptger1
prostaglandin E receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21739481
NCBI chr19:41,374,983...41,379,593
Ensembl chr19:24,467,532...24,473,559
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:18202791
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21401805 PMID:25199511
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778195
NCBI chr 1:192,032,124...192,033,419
Ensembl chr 1:182,601,174...182,602,955
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Rack1
receptor for activated C kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr10:33,668,560...33,676,031
Ensembl chr10:33,169,169...33,174,975
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Rad52
RAD52 homolog, DNA repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26013599
NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:153,106,062...153,128,207
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Rarb
retinoic acid receptor, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17549354
NCBI chr15:10,837,252...11,482,037
Ensembl chr15:8,406,492...9,051,288
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Rasa1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Rin3
Ras and Rab interactor 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 6:127,196,648...127,305,821
Ensembl chr 6:121,431,339...121,540,957
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Ripk1
receptor interacting serine/threonine kinase 1
ISO
RGD
PMID:19778795
RGD:7777170
NCBI chr17:31,044,983...31,077,167
Ensembl chr17:30,839,650...30,871,824
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Rnf168
ring finger protein 168
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34873829
NCBI chr11:81,991,352...82,013,306
Ensembl chr11:68,486,321...68,508,277
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Rnf6
ring finger protein 6
ISO
RGD
PMID:12154016
RGD:1599613
NCBI chr12:13,929,160...13,940,663
Ensembl chr12:8,816,833...8,826,847
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Ros1
ROS proto-oncogene 1 , receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr20:31,975,328...32,126,675
Ensembl chr20:31,432,637...31,583,865
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Rpe65
retinoid isomerohydrolase RPE65
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:16181461
RGD:9495923
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Sem1
SEM1 26S proteasome subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18922899
NCBI chr 4:35,638,306...35,658,462
Ensembl chr 4:34,671,848...34,692,005
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27296815 PMID:27993330 PMID:36367950
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339
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Serpinb3
serpin family B member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr13:23,788,758...23,795,298
Ensembl chr13:23,274,484...23,313,682
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 5:151,110,582...151,111,854
Ensembl chr 5:145,826,201...145,831,314
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Sirt3
sirtuin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472714
NCBI chr 1:205,371,703...205,394,145
Ensembl chr 1:195,942,073...195,964,808
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Slc45a2
solute carrier family 45, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Smurf2
SMAD specific E3 ubiquitin protein ligase 2
ISO
esophageal
RGD
PMID:17726579
RGD:2302550
NCBI chr10:92,261,516...92,362,185
Ensembl chr10:91,761,807...91,862,488
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12543247 PMID:15274141
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sox2
SRY-box transcription factor 2
ISO
protein:increased expression:mammalian vulva, epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19801978 PMID:23518916
RGD:8661666
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Sprr1a
small proline-rich protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8617999
NCBI chr 2:180,750,709...180,752,625
Ensembl chr 2:178,055,096...178,057,063
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased phosphorylation:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17566705 PMID:26432044 PMID:16043897
RGD:8694300
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Stk11
serine/threonine kinase 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:17676035 PMID:27993330
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16051514
NCBI chr 2:114,744,148...114,744,535
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Terf1
telomeric repeat binding factor 1
ISO
RGD
PMID:19679647
RGD:2317221
NCBI chr 5:8,226,345...8,255,614
Ensembl chr 5:3,443,106...3,472,340
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852150
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tiam1
TIAM Rac1 associated GEF 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27862620
NCBI chr11:42,517,527...42,866,280
Ensembl chr11:29,031,348...29,159,901
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Tlr4
toll-like receptor 4
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
invasive squamous cell carcinoma of the cervix
RGD
PMID:17440926
RGD:2301099
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:15044707
RGD:8661739
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Epidermoid carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma CTD Direct Evidence: marker/mechanism protein:increased expression:oral mucosa: DNA:polymorphism,mutations:cds:
ClinVar CTD RGD
PMID:1672732 PMID:9472631 PMID:9572492 PMID:10557074 PMID:10713666 PMID:10754498 PMID:11590071 PMID:11793474 PMID:12779080 PMID:12826609 PMID:15037740 PMID:15077194 PMID:15161705 PMID:15308588 PMID:15564800 PMID:16543248 PMID:16778209 PMID:16861262 PMID:17979968 PMID:18555592 PMID:19435901 PMID:21561095 PMID:24224046 PMID:25125259 PMID:25741868 PMID:26580448 PMID:26619011 PMID:27923803 PMID:27993330 PMID:28492532 PMID:29070607 PMID:29785153 PMID:29979965 PMID:30224644 PMID:30720243 PMID:30840781 PMID:31159747 PMID:32899294 PMID:18059331 PMID:23776093 PMID:22545084 PMID:9499192 More...
RGD:8547790 , RGD:8547855 , RGD:8547832 , RGD:8547794
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541
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Tsc1
TSC complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18538015
NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18538015
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Uba1
ubiquitin-like modifier activating enzyme 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014429
NCBI chr X:4,062,216...4,084,192
Ensembl chr X:1,508,666...1,530,636
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Uba7
ubiquitin-like modifier activating enzyme 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014429
NCBI chr 8:117,543,902...117,552,709
Ensembl chr 8:108,665,292...108,674,099
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Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16757204
NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903
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Vdac2
voltage-dependent anion channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr15:2,512,214...2,526,105
Ensembl chr15:2,463,056...2,476,553
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Vdr
vitamin D receptor
ISO
DNA:SNPs, haplotype: :rs731236, rs7975232 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:22213323 PMID:16950800
RGD:8158063 , RGD:8158080
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15956251 PMID:26432044
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Wwox
WW domain-containing oxidoreductase
ISO
esophageal squamous cell carcinoma, OMIM:133239 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17575124 PMID:11956080
RGD:1599874
NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391
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Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27777383
NCBI chr 4:125,550,833...125,578,084
Ensembl chr 4:123,993,666...124,021,010
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Xrcc5
X-ray repair cross complementing 5
ISO
protein:increased expression:epidermal cell, squamous cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 9:81,404,507...81,493,293
Ensembl chr 9:73,955,216...74,044,018
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Xrcc6
X-ray repair cross complementing 6
ISO
protein:increased expression:epidermal cell, squamous cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 7:115,423,026...115,443,884
Ensembl chr 7:113,543,057...113,563,762
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Brca2
BRCA2, DNA repair associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880342
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880342
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
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Strap
serine/threonine kinase receptor associated protein
ISO
RGD
PMID:16778189
RGD:1581429
NCBI chr 4:170,646,042...170,660,291
Ensembl chr 4:170,646,001...170,660,828
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23271742
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398
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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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Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar
PMID:25741868 PMID:31914175
NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936
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Lifr
LIF receptor subunit alpha
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar
PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 PMID:20447141 PMID:24033266 PMID:24477277 PMID:24988918 PMID:25326635 PMID:25540807 PMID:25741868 PMID:25868946 PMID:26627873 PMID:26752647 PMID:28334964 PMID:28492532 PMID:30614825 PMID:34063511 PMID:34426522 More...
NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:56,250,120...56,286,699
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Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594
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Lifr
LIF receptor subunit alpha
ISO
ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14740318 PMID:16199547 PMID:16969869 PMID:17576681 PMID:19371797 PMID:19603067 PMID:24033266 PMID:24175015 PMID:24477277 PMID:24988918 PMID:25326635 PMID:25741868 PMID:25868946 PMID:26627873 PMID:28334964 PMID:28492532 PMID:29620724 PMID:30919572 PMID:34063511 PMID:34426522 More...
NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:56,250,120...56,286,699
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611
G
Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31914175
NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936
G
Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524
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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
G
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
G
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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Ada
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
G
Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
G
Bcl2
BCL2, apoptosis regulator
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
G
Brinp3
BMP/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr13:60,964,127...61,397,044
Ensembl chr13:58,413,883...58,846,770
G
Cav2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:45,616,712...45,624,244
G
Ccnd1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
G
Egfr
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
G
Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
G
Erbb4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
G
Fancb
FA complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:33,035,387...33,051,993
Ensembl chr X:29,403,771...29,420,192
G
Fancc
FA complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,681,324...1,829,376
G
Fancf
FA complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:110,585,054...110,587,870
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640
G
Fancl
FA complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255
G
Fancm
FA complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:83,127,093...83,180,028
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
G
Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:88,082,324...88,089,506
Ensembl chr 1:78,954,115...78,961,465
G
Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
G
Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034
G
Fubp1
far upstream element binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602
G
Gja1
gap junction protein, alpha 1
IEP
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
G
Ifng
interferon gamma
disease_progression
IEP
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
disease_progression
IEP
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
G
Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256
G
Il2
interleukin 2
IEP
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
G
Il33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373
G
Jak3
Janus kinase 3
disease_progression
IEP
RGD
PMID:26860129
RGD:11531126
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
G
Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr16:18,768,093...18,769,771
Ensembl chr16:18,734,122...18,735,799
G
Kdr
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Map2k4
mitogen activated protein kinase kinase 4
ISO
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr16:57,905,991...58,051,466
Ensembl chr16:51,253,562...51,347,793
G
Slc1a5
solute carrier family 1 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:86,584,949...86,599,052
Ensembl chr 1:77,456,694...77,470,952
G
Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:215,033,601...215,048,064
Ensembl chr 1:205,604,468...205,618,931
G
Slc7a11
solute carrier family 7 member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 2:136,532,912...136,668,560
Ensembl chr 2:133,963,107...134,517,536
G
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
G
Sox2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
G
Tp53
tumor protein p53
IEP
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
Rnf43
ring finger protein 43
ISO
DNA:nonsense mutation:CDS:p.R113X (human)
RGD
PMID:24512911
RGD:11552863
NCBI chr10:72,958,744...73,034,540
Ensembl chr10:72,464,348...72,536,977
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
Cdc25a
cell division cycle 25A
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701
G
Cdc25b
cell division cycle 25B
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:118,407,128...118,417,272
G
Cdc25c
cell division cycle 25C
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,335,834...26,356,185
G
Sfn
stratifin
ISO
DNA, mRNA:hypermethylation, decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 5:151,110,582...151,111,854
Ensembl chr 5:145,826,201...145,831,314
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