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: fibroma
Accession: DOID:0050871
browse the term
Definition: A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)
Synonyms: exact_synonym: Fibromyxoma; fibromas; fibromatoses; fibromatosis; fibromyxomas; myxofibroma; myxofibromas
narrow_synonym: Superficial Fibromatosis
primary_id: MESH:D005350
xref: EFO:0000497 ; EFO:0002424 ; EFO:1000148 ; EFO:1000556
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Antxr2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707 PMID:14508707
RGD:1599125
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Brf1
BRF1, RNA polymerase III transcription initiation factor subunit
IMP
RGD
PMID:18456653
RGD:9586716
NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Aggressive fibromatosis
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Serpine1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8594558 PMID:8730280 PMID:8844222 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:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12901799 PMID:14523376 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: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:20301519 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:22703879 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: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:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26845104 PMID:26900293 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29367705 PMID:29419868 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:30267214 PMID:30374176 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31069152 PMID:31159747 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31942411 PMID:32658311 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36988593 More...
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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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 chr13:55,389,406...55,398,419
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 chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 PMID:15928335 PMID:16954519 PMID:17087936 PMID:17087943 PMID:17566086 PMID:22473090 PMID:22703879 PMID:22745105 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 PMID:28592523 PMID:29486293 PMID:29978744 PMID:33332384 More...
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Nab2
Ngfi-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989
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Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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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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
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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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