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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
PMID:28492532
NCBI chr 5:15,049,827...15,091,622
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MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
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TBX3
T-box transcription factor 3
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766
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AMPD3
adenosine monophosphate deaminase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:49,026,695...49,084,982
Ensembl chr 2:49,028,923...49,083,590
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ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420
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ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913
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ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226
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ASMTL
acetylserotonin O-methyltransferase like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
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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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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CCDC28A
coiled-coil domain containing 28A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:25,646,997...25,663,277
Ensembl chr 1:25,647,000...25,663,273
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CDCA2
cell division cycle associated 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:9,517,763...9,571,303
Ensembl chr14:9,518,201...9,566,588
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CDCP1
CUB domain containing protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:28,258,593...28,319,365
Ensembl chr13:28,257,417...28,319,215
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CELF4
CUGBP Elav-like family member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:121,065,604...121,381,052
Ensembl chr 6:121,066,772...121,381,028
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CLIC6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:198,250,702...198,303,830
Ensembl chr13:198,251,119...198,303,857
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CLSPN
claspin
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:91,906,325...91,968,070
Ensembl chr 6:91,906,320...91,967,901
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COL4A2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614
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CORO2A
coronin 2A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:239,947,299...240,000,964
Ensembl chr 1:239,947,301...240,000,918
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DAPK1
death associated protein kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350
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DCHS1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532 PMID:32381727
NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821
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DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514
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EHBP1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:78,907,315...79,261,890
Ensembl chr 3:78,907,317...79,257,760
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ELOVL5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:46,860,768...46,932,945
Ensembl chr 7:46,860,770...46,932,926
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EPHB6
EPH receptor B6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:7,346,793...7,419,859
Ensembl chr18:7,346,565...7,389,504
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EPPK1
epiplakin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563
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ETV5
ETS variant transcription factor 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:123,873,346...123,930,292
Ensembl chr13:123,873,350...123,930,200
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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 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
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FAM168B
family with sequence similarity 168 member B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:57,375,164...57,419,257
Ensembl chr15:57,375,167...57,419,054
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FRAS1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,717...73,957,375
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FTCD
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868 PMID:28492532
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623
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GRIN3A
glutamate ionotropic receptor NMDA type subunit 3A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:243,263,202...243,416,739
Ensembl chr 1:243,259,495...243,415,590
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GTDC1
glycosyltransferase like domain containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:7,685,969...8,162,784
Ensembl chr15:7,757,935...8,051,594
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HAS1
hyaluronan synthase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486
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HIVEP1
HIVEP zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:8,515,856...8,661,686
Ensembl chr 7:8,515,901...8,661,151
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HRH2
histamine receptor H2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:81,883,670...81,932,464
Ensembl chr 2:81,883,673...81,932,275
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IFT140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135
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IGF2R
insulin like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
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IGSF3
immunoglobulin superfamily member 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:104,044,784...104,167,173
Ensembl chr 4:103,994,390...104,166,988
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INTS3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:95,904,072...95,944,805
Ensembl chr 4:95,905,150...95,944,809
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ITGAL
integrin subunit alpha L
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012
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ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868
NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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LARP4B
La ribonucleoprotein 4B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:68,621,596...68,707,894
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LATS1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604
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LENG9
leukocyte receptor cluster member 9
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:58,857,625...58,860,471
Ensembl chr 6:58,857,800...58,860,442
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LINGO3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:76,264,077...76,280,627
Ensembl chr 2:76,264,071...76,280,623
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LOC100622826
keratin-associated protein 10-3-like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:207,403,140...207,404,529
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LOC100625088
182 kDa tankyrase-1-binding protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
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LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:76,149,304...76,159,397
Ensembl chr 7:76,149,307...76,158,891
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LRRFIP1
LRR binding FLII interacting protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385
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MAN2B1
mannosidase alpha class 2B member 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056
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MFHAS1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:56,200,455...56,296,151
Ensembl chr15:56,200,455...56,295,064
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MLXIPL
MLX interacting protein like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048
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MRRF
mitochondrial ribosome recycling factor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:262,355,994...262,416,116
Ensembl chr 1:262,353,032...262,418,243
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NAPSA
napsin A aspartic peptidase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:55,221,203...55,230,609
Ensembl chr 6:55,221,205...55,230,449
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NR3C2
nuclear receptor subfamily 3 group C member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
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NUMA1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,945...6,662,085
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OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:76,234,710...76,266,700
Ensembl chr 7:76,230,889...76,266,429
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PACSIN2
protein kinase C and casein kinase substrate in neurons 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:5,853,377...5,985,174
Ensembl chr 5:5,853,377...5,985,169
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PARS2
prolyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:157,588,985...157,595,175
Ensembl chr 6:157,589,024...157,595,171
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PLAGL1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:21,299,830...21,371,070
Ensembl chr 1:21,364,696...21,370,614
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
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PPP1R21
protein phosphatase 1 regulatory subunit 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:92,091,763...92,145,386
Ensembl chr 3:92,092,635...92,109,713
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PTGFR
prostaglandin F receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:134,727,334...134,777,067
Ensembl chr 6:134,727,343...134,777,072
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PTPN21
protein tyrosine phosphatase non-receptor type 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:110,374,915...110,453,820
Ensembl chr 7:110,373,530...110,453,812
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RABEP2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925
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RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532
NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189
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RBM12B
RNA binding motif protein 12B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:42,946,857...42,971,191
Ensembl chr 4:42,946,778...42,958,842
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RBM14
RNA binding motif protein 14
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:5,776,535...5,784,337
Ensembl chr 2:5,776,539...5,784,337
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RECQL5
RecQ like helicase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:5,732,336...5,770,136
Ensembl chr12:5,732,348...5,770,133
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RPL36
ribosomal protein L36
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:73,286,906...73,288,512
Ensembl chr 2:73,286,903...73,288,489
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SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
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SCNN1G
sodium channel epithelial 1 subunit gamma
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:22,977,940...23,013,384
Ensembl chr 3:22,977,947...23,013,384
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SENP3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:52,857,463...52,867,583
Ensembl chr12:52,765,187...52,867,576
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SLC27A5
solute carrier family 27 member 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:63,068,880...63,075,246
Ensembl chr 6:63,065,830...63,075,202
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SLC7A2
solute carrier family 7 member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849
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SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395
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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 chr12:59,466,778...59,705,602
Ensembl chr12:59,466,791...59,654,192
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SPEN
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:75,015,565...75,107,468
Ensembl chr 6:75,015,521...75,107,033
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STIL
STIL centriolar assembly protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:164,197,511...164,266,615
Ensembl chr 6:164,197,600...164,265,818
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SYT7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:9,947,962...10,012,713
Ensembl chr 2:9,947,925...10,012,496
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TANGO6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:17,870,050...18,071,555
Ensembl chr 6:17,869,929...18,071,522
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TDP1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,249
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TENM3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:41,818,190...44,401,747
Ensembl chr15:43,540,375...44,399,711
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TEX15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:54,210,139...54,277,609
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TGFBR1
transforming growth factor beta receptor 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528
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TLN2
talin 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:109,208,663...109,680,663
Ensembl chr 1:109,208,672...109,584,727
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TMCC3
transmembrane and coiled-coil domain family 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:88,409,560...88,682,328
Ensembl chr 5:88,438,365...88,682,319
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TMEM121
transmembrane protein 121
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
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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 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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TSKS
testis specific serine kinase substrate
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:54,762,173...54,785,211
Ensembl chr 6:54,761,193...54,779,952
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TSPEAR
thrombospondin type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
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VAC14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,801...13,791,241
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VIPR2
vasoactive intestinal peptide receptor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:396,379...466,408
Ensembl chr18:396,263...518,102
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YLPM1
YLP motif containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:97,976,129...98,042,234
Ensembl chr 7:97,976,144...98,042,230
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ZNF668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,795
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