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: leiomyoma
Accession: DOID:127
browse the term
Definition: A cell type benign neoplasm that is a benign tumor of smooth muscle cells. (DO)
Synonyms: exact_synonym: Fibroid; Fibroid Tumor; Fibroid Tumors; Fibroid Uterus; Fibromyoma; Fibromyomas; Leiomyomas; Uterine Fibroma; fibroids; leiomyomatous neoplasm; leiomyomatous tumor; uterine fibromas
narrow_synonym: renal leiomyoma
primary_id: MESH:D007889
xref: EFO:1000050 ; ICDO:8890/0; NCI:C3157 ; NCI:C60426
For additional species annotation, visit the
Alliance of Genome Resources .
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Ar
androgen receptor
ISO
RGD
PMID:15704521
RGD:1578690
NCBI chr X:63,104,771...63,273,934
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 chr20:5,100,480...5,109,669
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 1:95,940,001...95,945,407
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 chr13:22,689,783...22,853,920
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 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Cav1
caveolin 1
ISO
protein:increased expression:uterus
RGD
PMID:17952758
RGD:2296031
NCBI chr 4:45,640,624...45,673,708
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 chr10:25,176,231...25,182,604
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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Csnk2b
casein kinase 2 beta
ISO
RGD
PMID:25327614
RGD:11565842
NCBI chr20:3,700,363...3,705,331
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 chr14:91,176,979...91,349,722
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 1:41,106,335...41,499,104
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 4:76,624,399...76,687,362
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 chr13:74,151,519...74,172,760
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 chr18:30,686,555...30,772,667
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 2:120,236,328...120,290,673
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 3:113,280,448...113,333,279
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 chr10:87,561,866...87,563,776
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 chr12:15,217,217...15,222,679
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 7:55,877,145...55,998,813
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 chr17:49,091,635...49,111,573
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 chr15:2,638,885...2,811,977
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 3:34,032,082...34,185,597
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 1:58,258,642...58,355,532
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 1:190,496,319...190,522,983
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 chr19:14,154,657...14,182,870
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 7:93,593,705...93,598,633
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 4:10,793,834...10,814,170
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 chr13:92,307,593...92,339,406
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 3:119,499,039...119,502,911
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 chr11:35,759,711...35,861,725
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 chr12:15,645,549...15,667,056
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 7:111,539,444...111,557,984
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 8:6,072,673...6,131,552
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 1:230,630,443...230,697,070
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 2:246,606,131...246,750,970
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 7:105,126,725...105,331,848
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 chr16:68,575,763...68,614,180
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 8:64,126,829...64,236,960
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 5:61,653,773...61,710,777
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 chr10:13,621,135...13,655,773
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 4:152,609,566...152,733,790
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 4:123,863,108...123,908,981
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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Col4a5
collagen type IV alpha 5 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17069596
NCBI chr X:105,118,762...105,322,699
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:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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Chml
CHM like Rab escort protein
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
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Chrm3
cholinergic receptor, muscarinic 3
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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Exo1
exonuclease 1
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
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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 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: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:26900816 PMID:26945337 PMID:27037871 PMID:27097334 PMID:27454940 PMID:27541980 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: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:32008151 PMID:32012241 PMID:32154112 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 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:38002934 PMID:38279137 PMID:15937070 More...
RGD:1598939
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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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
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Grem2
gremlin 2, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615
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Kmo
kynurenine 3-monooxygenase
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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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
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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Rgs7
regulator of G-protein signaling 7
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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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
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Zp4
zona pellucida glycoprotein 4
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:59,005,649...59,012,202
Ensembl chr17:59,005,649...59,012,202
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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:25741868 PMID:25985877 PMID:26457356 PMID:26467025 PMID:26945337 PMID:27541980 PMID:28300276 PMID:28371217 PMID:28492532 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29641532 PMID:29893455 PMID:29909963 PMID:30741757 PMID:30877234 PMID:31162287 PMID:31444830 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 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 More...
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Cd44
CD44 molecule
ISO
RGD
PMID:15762960
RGD:2296043
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
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Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Bet1l
Bet1 golgi vesicular membrane trafficking protein-like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 1:195,931,407...195,935,072
Ensembl chr 1:195,931,411...195,935,040
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Col4a1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col4a2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:91,361,578...91,439,434
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 chr17:3,930,223...4,090,991
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 chr10:80,064,489...80,069,891
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 chr13:87,524,331...87,550,215
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 2:195,544,424...195,549,895
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 7:55,877,145...55,998,813
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 9:83,552,964...83,605,797
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:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
G
Nuak1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 7:19,330,034...19,401,918
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 chr17:1,542,705...1,607,730
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 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
G
Tsc2
TSC complex subunit 2
ISS
OMIM:150699
MouseDO
NCBI chr10:13,621,135...13,655,773
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 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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