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: Sweat Gland Neoplasms
Accession: DOID:9007274
browse the term
Definition: New abnormal growth of tissue in the SWEAT GLANDS.
Synonyms: exact_synonym: neoplasm of sweat gland; sweat gland neoplasms; sweat gland tumor; tumor of the sweat gland
primary_id: MESH:D013544
xref: EFO:1001204 ; NCI:C3398
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TP63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20740144
NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
PMID:28492532
NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
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MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
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TBX3
T-box transcription factor 3
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr26:11,694,885...11,709,594
Ensembl chr26:11,696,565...11,708,918
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AMPD3
adenosine monophosphate deaminase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
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ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488
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ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:18,161,418...18,178,325
Ensembl chr15:18,160,835...18,179,029
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ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880
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ASMTL
acetylserotonin O-methyltransferase like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr X:1,102,094...1,118,791
Ensembl chr X:1,100,747...1,118,791
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:15016963 PMID:15753399 PMID:24033266
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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CCDC28A
coiled-coil domain containing 28A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:31,044,102...31,058,173
Ensembl chr 1:31,044,126...31,057,800
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CDCA2
cell division cycle associated 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr25:31,943,649...31,997,101
Ensembl chr25:31,947,094...31,996,022
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CDCP1
CUB domain containing protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:43,234,981...43,293,840
Ensembl chr20:43,234,387...43,289,765
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CELF4
CUGBP Elav-like family member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:52,940,941...53,012,206
Ensembl chr 7:52,838,558...53,010,041
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CLIC6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr31:30,003,448...30,102,939
Ensembl chr31:30,091,335...30,100,842
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CLSPN
claspin
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:6,400,084...6,430,295
Ensembl chr15:6,400,062...6,430,279
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COL4A2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297
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CORO2A
coronin 2A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:55,345,577...55,400,092
Ensembl chr11:55,345,934...55,372,374
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DAPK1
death associated protein kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822
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DCHS1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532 PMID:32381727
NCBI chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713
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DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488
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EHBP1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:62,480,466...62,825,978
Ensembl chr10:62,366,512...62,825,693
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ELOVL5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:20,732,641...20,807,748
Ensembl chr12:20,734,282...20,807,739
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EPHB6
EPH receptor B6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:6,706,302...6,718,566
Ensembl chr16:6,706,313...6,718,566
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EPPK1
epiplakin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:37,401,099...37,410,739
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ETV5
ETS variant transcription factor 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr34:18,729,684...18,791,667
Ensembl chr34:18,731,943...18,789,386
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EYA4
EYA transcriptional coactivator and phosphatase 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
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FAM168B
family with sequence similarity 168 member B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:20,734,167...20,775,792
Ensembl chr19:20,738,223...20,775,792
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FRAS1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
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FTCD
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
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GRIN3A
glutamate ionotropic receptor NMDA type subunit 3A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:58,271,808...58,421,887
Ensembl chr11:58,273,377...58,421,761
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GTDC1
glycosyltransferase like domain containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:45,971,203...46,273,888
Ensembl chr19:45,973,109...46,365,143
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GTF2A1L
general transcription factor IIA subunit 1 like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:50,488,530...50,533,526
Ensembl chr10:50,488,530...50,533,516
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HAS1
hyaluronan synthase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:105,376,091...105,386,043
Ensembl chr 1:105,376,536...105,385,134
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HIVEP1
HIVEP zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr35:11,551,270...11,705,629
Ensembl chr35:11,555,221...11,705,002
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HRH2
histamine receptor H2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:37,333,843...37,407,146
Ensembl chr 4:37,275,852...37,386,072
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IFT140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758
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IGF2R
insulin like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
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IGSF3
immunoglobulin superfamily member 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:54,015,154...54,106,219
Ensembl chr17:54,017,456...54,106,535
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INTS3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362
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ITGAL
integrin subunit alpha L
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:17,605,611...17,645,134
Ensembl chr 6:17,605,760...17,644,986
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868
NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
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LARP4B
La ribonucleoprotein 4B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:34,026,788...34,122,144
Ensembl chr 2:34,026,534...34,119,443
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LATS1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609
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LENG9
leukocyte receptor cluster member 9
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:102,842,997...102,844,194
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LINGO3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:56,755,986...56,757,919
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LOC102151833
keratin-associated protein 10-7-like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr31:38,306,220...38,307,536
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LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:3,208,710...3,214,888
Ensembl chr 8:3,208,269...3,382,311
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LRRFIP1
LRR binding FLII interacting protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr25:48,292,968...48,370,727
Ensembl chr25:48,292,720...48,370,469
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MAN2B1
mannosidase alpha class 2B member 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:49,446,162...49,461,812
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MFHAS1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:35,579,531...35,676,552
Ensembl chr16:35,579,585...35,674,063
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MLXIPL
MLX interacting protein like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:6,617,398...6,652,201
Ensembl chr 6:6,633,231...6,652,198
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MMP26
matrix metallopeptidase 26
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:27,416,768...27,429,374
Ensembl chr21:27,423,965...27,428,624
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MRRF
mitochondrial ribosome recycling factor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:60,256,728...60,314,561
Ensembl chr 9:60,258,977...60,314,864
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NAPSA
napsin A aspartic peptidase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:106,351,842...106,361,592
Ensembl chr 1:106,318,488...106,374,987
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NR3C2
nuclear receptor subfamily 3 group C member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
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NUMA1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
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OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:3,108,669...3,132,337
Ensembl chr 8:3,108,757...3,132,334
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PACSIN2
protein kinase C and casein kinase substrate in neurons 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:22,512,058...22,648,553
Ensembl chr10:22,512,077...22,647,322
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PARS2
prolyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:54,392,668...54,401,983
Ensembl chr 5:54,397,126...54,398,729
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PLAGL1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:35,418,470...35,529,230
Ensembl chr 1:35,419,577...35,528,530
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
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PTGFR
prostaglandin F receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:68,460,107...68,498,793
Ensembl chr 6:68,460,107...68,499,789
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PTPN21
protein tyrosine phosphatase non-receptor type 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:59,707,192...59,783,185
Ensembl chr 8:59,708,972...59,782,459
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RABEP2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477
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RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532
NCBI chr11:20,836,863...20,928,930
Ensembl chr11:20,836,879...20,928,819
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RBM12B
RNA binding motif protein 12B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr29:38,631,313...38,641,998
Ensembl chr29:38,634,742...38,637,723
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RECQL5
RecQ like helicase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:4,902,753...4,940,442
Ensembl chr 9:4,903,477...4,940,436
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RPL36
ribosomal protein L36
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:54,334,256...54,335,169
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SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
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SCNN1G
sodium channel epithelial 1 subunit gamma
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503
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SENP3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:32,485,738...32,493,225
Ensembl chr 5:32,484,572...32,500,805
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SLC27A5
solute carrier family 27 member 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:99,435,140...99,438,388
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SLC7A2
solute carrier family 7 member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106
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SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:20,640,695...20,711,853
Ensembl chr10:20,640,187...20,711,822
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SPECC1
sperm antigen with calponin homology and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:39,936,851...40,163,249
Ensembl chr 5:39,940,165...40,137,627
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SPEN
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:81,683,824...81,775,904
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STIL
STIL centriolar assembly protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:13,369,292...13,431,677
Ensembl chr15:13,371,925...13,430,951
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STON1
stonin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:50,421,635...50,470,302
Ensembl chr10:50,436,715...50,467,878
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SYT7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:54,863,072...54,926,121
Ensembl chr18:54,861,754...54,921,367
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TANGO6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:80,548,809...80,748,408
Ensembl chr 5:80,532,865...80,748,563
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TDP1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:61,023,564...61,107,599
Ensembl chr 8:61,024,084...61,107,506
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TENM3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:47,440,673...47,883,311
Ensembl chr16:47,441,348...48,044,322 Ensembl chr16:47,441,348...48,044,322
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TEX15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:33,423,546...33,517,458
Ensembl chr16:33,423,876...33,515,452
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TGFBR1
transforming growth factor beta receptor 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
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TLN2
talin 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr30:27,023,731...27,452,575
Ensembl chr30:27,257,948...27,449,267
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TMCC3
transmembrane and coiled-coil domain family 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:34,624,804...34,850,226
Ensembl chr15:34,629,079...34,638,550
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TMEM121
transmembrane protein 121
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:72,807,482...72,810,575
Ensembl chr 8:72,808,382...72,810,277
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TNKS1BP1
tankyrase 1 binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:38,815,845...38,838,184
Ensembl chr18:38,816,323...38,838,192
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TRPM4
transient receptor potential cation channel subfamily M member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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TSKS
testis specific serine kinase substrate
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:106,791,050...106,805,595
Ensembl chr 1:106,747,860...106,805,699
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TSPEAR
thrombospondin type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
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VAC14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353
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VIPR2
vasoactive intestinal peptide receptor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:20,925,032...20,987,513
Ensembl chr16:20,927,991...20,987,785
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YLPM1
YLP motif containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:47,878,176...47,957,714
Ensembl chr 8:47,878,298...47,980,569
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ZNF668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174
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