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: Fibrous Tissue Neoplasms
Accession: DOID:9008446
browse the term
Definition: Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue.
Synonyms: exact_synonym: fibrous tissue neoplasm
primary_id: MESH:D018218
xref: EFO:1000255
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022
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Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976
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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 chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Creb1
cAMP responsive element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339
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Wnt7b
Wnt family member 7B
ISO
RGD
PMID:8168088
RGD:2291878
NCBI chr 7:118,514,684...118,559,316
Ensembl chr 7:118,514,684...118,559,316
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Congenital fibrosarcoma
ClinVar
PMID:22508808 PMID:25403219 PMID:28492532 PMID:33024317 PMID:35768194
NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Infantile fibrosarcoma
ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29324801 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:33300245 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Col1a1
collagen type I alpha 1 chain
ISO
DNA:gene fusion:exon associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
RGD
PMID:12641779 PMID:22153773
RGD:2292195 , RGD:5688300
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
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Pdgfb
platelet derived growth factor subunit B
ISO
DNA:gene fusion:exon ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:12641779
RGD:2292195
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
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Mtap
methylthioadenosine phosphorylase
ISO
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:108,988,830...109,055,214
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:212,183,833...212,192,391
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Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25038752 PMID:26437033
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:70,444,705...70,467,708
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Rara
retinoic acid receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr10:84,379,780...84,424,371
Ensembl chr10:84,389,622...84,425,160
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Wnt2
Wnt family member 2
ISO
mRNA:increased expression:breast
RGD
PMID:8168088
RGD:2291878
NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:47,294,300...47,421,976
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Wnt4
Wnt family member 4
ISO
breast fibroadenoma
RGD
PMID:8168088
RGD:2291878
NCBI chr 5:154,797,245...154,818,565
Ensembl chr 5:154,797,311...154,817,128
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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 chr14:11,845,774...11,986,166
Ensembl chr14:11,845,700...11,986,168
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Brf1
BRF1 general transcription factor IIIB subunit
IMP
RGD
PMID:18456653
RGD:9586716
NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:137,855,449...137,902,386
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Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443
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Cdc42
cell division cycle 42
ISO
RGD
PMID:17971488
RGD:5688275
NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627
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Ddr2
discoidin domain receptor tyrosine kinase 2
ameliorates
ISO
DNA:deletion:exons:
RGD
PMID:24293323
RGD:150429711
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:84,731,180...84,850,288
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Egr1
early growth response 1
ISO
human tumor line expressing mouse gene in mouse model
RGD
PMID:7585551
RGD:5131944
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
RGD
PMID:11238917
RGD:11567233
NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601955
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
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Serpine1
serpin family E member 1
severity
ISO
RGD
PMID:11059781
RGD:8547752
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
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Tert
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:19903903
RGD:11038656
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
human gene in mouse model
RGD
PMID:10753499
RGD:5131435
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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Mfhas1
multifunctional ROCO family signaling regulator 1
ISO
RGD
PMID:9973190
RGD:1599928
NCBI chr16:63,248,833...63,336,441
Ensembl chr16:63,250,455...63,336,602
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Mmp21
matrix metallopeptidase 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16984259
NCBI chr 1:197,910,178...197,915,847
Ensembl chr 1:197,910,178...197,915,847
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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 | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1316610 PMID:1319838 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 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:10482959 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11693343 PMID:11741105 PMID:11748858 PMID:11818965 PMID:11867715 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:14999774 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15133491 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15689459 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17568392 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:18982352 PMID:19029688 PMID:19036155 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 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:22608206 PMID:22645652 PMID:22669205 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22875147 PMID:22987206 PMID:23085758 PMID:23116752 PMID:23159591 PMID:23274167 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23725351 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24618431 PMID:24728327 PMID:24735542 PMID:24946964 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25243319 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25742471 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25941542 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26213617 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26416840 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26530882 PMID:26580448 PMID:26613750 PMID:26650777 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27077911 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27647783 PMID:27683109 PMID:27684187 PMID:27852271 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135048 PMID:28135145 PMID:28195569 PMID:28202063 PMID:28259476 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28548127 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29245953 PMID:29367705 PMID:29386312 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29868112 PMID:29915797 PMID:29945567 PMID:29961768 PMID:29987844 PMID:30086788 PMID:30093976 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31703593 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:31970404 PMID:32068069 PMID:32187665 PMID:32283892 PMID:32390703 PMID:32504335 PMID:32547938 PMID:32658311 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33569305 PMID:33606809 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34271781 PMID:34326862 PMID:34347074 PMID:34388351 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:35586626 PMID:36243179 PMID:36315513 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Klrk1
killer cell lectin like receptor K1
treatment
IDA
RGD
PMID:15048723
RGD:9685182
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY | 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 chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778
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Pdgfrb
platelet derived growth factor receptor beta
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile OMIM:228550 | OMIM:615293
CTD ClinVar MouseDO
PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25356970 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:28726812 PMID:30573803 PMID:30941910 PMID:31004414 PMID:31017643 PMID:31064749 PMID:31474318 PMID:34494111 PMID:39580648 More...
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Myofibromatosis, infantile, 1
ClinVar
PMID:23731542
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Myofibromatosis, infantile, 1
OMIM ClinVar
PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31474318 PMID:39580648 More...
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Myofibromatosis, infantile, 2
OMIM ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:12146805 PMID:12482954 PMID:12754354 PMID:12810003 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16580020 PMID:17122431 PMID:17390743 PMID:17879445 PMID:17879447 PMID:18384453 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19174371 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20301673 PMID:20935329 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22153900 PMID:22218279 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:23584202 PMID:23731542 PMID:23844775 PMID:24033266 PMID:24086431 PMID:24425116 PMID:24886907 PMID:25260786 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25929831 PMID:25980907 PMID:26261665 PMID:26305465 PMID:26467025 PMID:26646783 PMID:26806700 PMID:27350778 PMID:27844030 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28710804 PMID:28815929 PMID:28902129 PMID:28991717 PMID:30311053 PMID:30956055 PMID:31418856 PMID:31433517 PMID:31441874 PMID:31589614 PMID:31998484 PMID:32172663 PMID:32277177 PMID:32555735 PMID:32581362 PMID:32732295 PMID:32765252 PMID:32912545 PMID:34008892 PMID:34297860 PMID:34335700 PMID:34851492 PMID:35754959 PMID:35775048 PMID:35822697 PMID:35862191 PMID:35906014 PMID:36261288 PMID:36401683 PMID:37476306 PMID:37873835 More...
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778
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Mfhas1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: MFHAS1-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:63,248,833...63,336,441
Ensembl chr16:63,250,455...63,336,602
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Ppargc1a
PPARG coactivator 1 alpha
treatment
ISO
human cell line in mouse model
RGD
PMID:23166610
RGD:7242013
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Malignant fibrous histiocytoma
ClinVar
PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778
NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258
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Prlr
prolactin receptor
ISO
ClinVar Annotator: match by term: Multiple fibroadenomas of the breast
OMIM ClinVar
PMID:18779591
NCBI chr 2:60,861,391...61,051,883
Ensembl chr 2:60,861,658...61,051,882
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:10554031
RGD:8552377
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
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Mxi1
MAX interactor 1, dimerization protein
ISO
ClinVar Annotator: match by term: Neurofibrosarcoma
ClinVar RGD
PMID:10470286 PMID:10470286
RGD:1600205
NCBI chr 1:262,329,274...262,389,037
Ensembl chr 1:262,328,875...262,389,036
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16239399
NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:peripheral nerve
RGD
PMID:10554031
RGD:8552377
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
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Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978
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Nab2
Ngfi-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:65,382,863...65,389,527
Ensembl chr 7:65,382,863...65,389,255
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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 7:65,365,505...65,382,825
Ensembl chr 7:65,365,306...65,383,795
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973
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Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:172,818,176...172,842,293
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Bet1l
Bet1 golgi vesicular membrane trafficking protein-like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 1:205,361,041...205,365,036
Ensembl chr 1:205,361,041...205,364,706
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Col4a1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482
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Col4a2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
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Dapk1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,561,335...80,566,711
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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 chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627
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Gstm5l
glutathione S-transferase, mu 5-like
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 2:198,231,285...198,238,122
Ensembl chr 2:198,232,596...198,238,252
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Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:57,765,675...57,880,341
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Irs1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:90,993,519...91,054,538
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:70,444,705...70,467,708
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Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 8:35,634,929...36,625,081
Ensembl chr 8:35,635,640...36,624,807
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Nuak1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:21,217,681...21,289,354
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973
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Tsc2
TSC complex subunit 2
ISS
OMIM:150699
MouseDO
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600
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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 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907 Ensembl chr 1:161,745,540...161,764,907
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