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
G
TP63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20740144
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
G
KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
PMID:28492532
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
G
MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
G
TBX3
T-box transcription factor 3
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr12:112,240,050...112,254,299
Ensembl chr12:115,620,002...115,631,316
G
AMPD3
adenosine monophosphate deaminase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:10,581,730...10,638,777
Ensembl chr11:10,309,436...10,365,369
G
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
G
ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466
G
ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924
G
ASMTL
acetylserotonin O-methyltransferase like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr X:1,534,754...1,588,735
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:15016963 PMID:15753399 PMID:24033266
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
G
CCDC28A
coiled-coil domain containing 28A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:136,533,841...136,553,303
Ensembl chr 6:140,619,716...140,638,830
G
CDCA2
cell division cycle associated 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:24,739,705...24,788,898
Ensembl chr 8:21,650,086...21,697,584
G
CDCP1
CUB domain containing protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:44,982,974...45,048,814
Ensembl chr 3:46,097,391...46,130,929
G
CELF4
CUGBP Elav-like family member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:30,495,149...30,818,358
Ensembl chr18:34,068,123...34,374,372
G
CLIC6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:21,041,763...21,089,958
G
CLSPN
claspin
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:34,991,082...35,040,515
Ensembl chr 1:36,182,726...36,218,544
G
COL4A2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
G
CORO2A
coronin 2A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:69,210,625...69,282,434
Ensembl chr 9:97,335,026...97,368,204
G
DAPK1
death associated protein kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
G
DCHS1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532 PMID:32381727
NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352
G
DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387
G
EHBP1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2A:62,784,756...63,122,396
Ensembl chr2A:63,882,029...64,250,914
G
ELOVL5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:52,822,038...52,902,122
Ensembl chr 6:54,451,887...54,485,878
G
EPHB6
EPH receptor B6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:134,845,936...134,862,114
Ensembl chr 7:147,337,558...147,353,575
G
EPPK1
epiplakin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:140,611,627...140,640,303
G
ETV5
ETS variant transcription factor 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:183,076,677...183,139,886
Ensembl chr 3:191,545,915...191,606,550
G
EYA4
EYA transcriptional coactivator and phosphatase 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:131,016,143...131,306,251
Ensembl chr 6:135,116,978...135,404,403
G
FAM168B
family with sequence similarity 168 member B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2B:29,717,246...29,762,842
Ensembl chr2B:131,801,321...131,835,725
G
FRAS1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
G
FTCD
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
G
GRIN3A
glutamate ionotropic receptor NMDA type subunit 3A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:72,773,866...72,943,790
Ensembl chr 9:100,767,715...100,941,323
G
GTDC1
glycosyltransferase like domain containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2B:15,512,420...15,899,477
Ensembl chr2B:148,026,117...148,312,426
G
HAS1
hyaluronan synthase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804
G
HIVEP1
HIVEP zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:11,847,552...12,003,710
Ensembl chr 6:12,286,017...12,363,803
G
HRH2
histamine receptor H2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:171,004,893...171,057,539
Ensembl chr 5:177,928,039...177,931,566
G
IFT140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
G
IGF2R
insulin like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
G
IGSF3
immunoglobulin superfamily member 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:85,852,214...85,989,556
G
INTS3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:129,084,681...129,130,669
Ensembl chr 1:132,714,200...132,759,842
G
ITGAL
integrin subunit alpha L
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597
G
ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868
NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401
G
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:135,391,321...135,424,100
G
LARP4B
La ribonucleoprotein 4B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:842,621...966,106
Ensembl chr10:894,957...971,154
G
LENG9
leukocyte receptor cluster member 9
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:51,408,645...51,411,271
G
LINGO3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:1,299,345...1,317,706
G
LOC100988625
keratin-associated protein 10-11
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:30,940,722...30,942,340
Ensembl chr21:44,235,427...44,236,323
G
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936
G
LRRFIP1
LRR binding FLII interacting protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2B:124,856,660...125,013,602
Ensembl chr2B:243,775,371...243,863,116
G
MAN2B1
mannosidase alpha class 2B member 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
G
MFHAS1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:10,318,455...10,428,469
G
MLXIPL
MLX interacting protein like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr 7:80,745,765...80,776,153
G
MMP26
matrix metallopeptidase 26
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:5,154,066...5,158,891
Ensembl chr11:4,823,666...4,828,035
G
MRRF
mitochondrial ribosome recycling factor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:93,389,726...93,448,596
Ensembl chr 9:121,730,783...121,790,157
G
NAPSA
napsin A aspartic peptidase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:47,321,581...47,333,307
Ensembl chr19:56,225,421...56,232,822
G
NR3C2
nuclear receptor subfamily 3 group C member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
G
NUMA1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425
G
OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101
G
PACSIN2
protein kinase C and casein kinase substrate in neurons 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr22:23,757,565...23,900,837
Ensembl chr22:41,908,922...41,999,692
G
PARS2
prolyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:54,032,594...54,040,274
Ensembl chr 1:55,622,726...55,624,750
G
PLAGL1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:141,715,599...141,841,862
Ensembl chr 6:146,435,622...146,480,224
G
POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
G
PTGFR
prostaglandin F receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:77,714,164...77,762,171
Ensembl chr 1:79,794,831...79,841,467
G
PTPN21
protein tyrosine phosphatase non-receptor type 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:69,085,843...69,174,659
Ensembl chr14:88,444,261...88,528,951
G
RABEP2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr16:29,289,949...29,314,177
G
RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532
NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261
G
RBM12B
RNA binding motif protein 12B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:90,355,185...90,364,933
G
RBM4
RNA binding motif protein 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:61,996,221...62,026,007
Ensembl chr11:65,298,404...65,349,183
G
RECQL5
RecQ like helicase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:69,577,778...69,618,068
Ensembl chr17:75,128,325...75,168,254
G
RPL36
ribosomal protein L36
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:4,707,396...4,708,897
Ensembl chr19:5,643,030...5,644,360
G
SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
G
SCNN1G
sodium channel epithelial 1 subunit gamma
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969
G
SENP3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:7,593,904...7,603,538
Ensembl chr17:7,580,106...7,589,838
G
SLC27A5
solute carrier family 27 member 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:55,507,455...55,520,448
Ensembl chr19:64,329,567...64,342,630
G
SLC7A2
solute carrier family 7 member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645
G
SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr22:26,229,904...26,299,559
Ensembl chr22:44,410,118...44,479,513
G
SPECC1
sperm antigen with calponin homology and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:30,800,973...31,114,322
Ensembl chr17:35,951,060...36,253,178
G
SPEN
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585
G
STIL
STIL centriolar assembly protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
G
STON1
stonin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2A:48,656,425...48,722,288
Ensembl chr2A:49,577,562...49,721,845
G
SYT7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:56,814,694...56,880,439
Ensembl chr11:60,175,403...60,242,375
G
TANGO6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:49,214,359...49,456,454
Ensembl chr16:68,605,597...68,844,467
G
TDP1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802
G
TENM3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:173,644,674...174,993,218
Ensembl chr 4:186,738,624...187,214,394
G
TEX15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:30,145,628...30,232,903
Ensembl chr 8:27,334,129...27,420,049
G
TGFBR1
transforming growth factor beta receptor 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
G
TLN2
talin 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:41,337,084...41,790,949
Ensembl chr15:59,892,920...60,088,414
G
TMCC3
transmembrane and coiled-coil domain family 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:92,150,075...92,233,394
Ensembl chr12:95,508,740...95,556,182
G
TMEM121
transmembrane protein 121
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:86,181,558...86,185,176
G
TNKS1BP1
tankyrase 1 binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:52,541,056...52,566,544
Ensembl chr 3:160,029,550...160,054,494
G
TRPM4
transient receptor potential cation channel subfamily M member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
G
TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
G
TSKS
testis specific serine kinase substrate
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:46,753,614...46,776,505
Ensembl chr19:55,672,894...55,694,031
G
TSPEAR
thrombospondin type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041
G
VAC14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143
G
VIPR2
vasoactive intestinal peptide receptor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr 7:162,306,477...162,422,788
G
YLPM1
YLP motif containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:55,315,429...55,388,330
Ensembl chr14:74,160,867...74,232,769
G
ZNF668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all