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.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Adss1
adenylosuccinate synthase 1
IEP
protein:decreased activity:tumor (rat)
RGD
PMID:2560335
RGD:5143928
NCBI chr 6:137,500,549...137,523,087
Ensembl chr 6:131,679,701...131,701,998
G
Adss2
adenylosuccinate synthase 2
IEP
protein:increased activity:tumor (rat)
RGD
PMID:2560335
RGD:5143928
NCBI chr13:92,301,302...92,331,638
Ensembl chr13:89,769,244...89,799,604
G
Atad5
ATPase family, AAA domain containing 5
susceptibility
ISO
RGD
PMID:21901109
RGD:11552595
NCBI chr10:65,568,569...65,616,379
Ensembl chr10:65,070,689...65,117,845
G
Atrx
ATRX, chromatin remodeler
ISO
protein:decreased expression: :
RGD
PMID:26428317
RGD:11536196
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330
G
Ccl2
C-C motif chemokine ligand 2
IEP
protein:increased expression:serum (rat)
RGD
PMID:25667449
RGD:11528521
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
G
Ccng1
cyclin G1
treatment
ISO
mRNA:decreased expression: (human)
RGD
PMID:27982046 PMID:19532136
RGD:151361200 , RGD:151361204
NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,176,234...25,181,641
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Sarcoma
ClinVar
PMID:15145354 PMID:21876083 PMID:24713400 PMID:25741868 PMID:28492532
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11605069
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Sarcoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
G
Fus
Fus RNA binding protein
ISO
RGD
PMID:21677541 PMID:21658743
RGD:5509905 , RGD:5509906
NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414
G
Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152492
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
G
Hspb1
heat shock protein family B (small) member 1
disease_progression
ISO
RGD
PMID:21833720
RGD:10402768
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9794839
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:uterus
RGD
PMID:15823121
RGD:2289964
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Knl1
kinetochore scaffold 1
treatment
ISO
RGD
PMID:31089155
RGD:151660332
NCBI chr 3:126,483,498...126,545,774
Ensembl chr 3:106,029,661...106,091,915
G
Maml3
mastermind-like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 2:137,871,267...138,288,615
Ensembl chr 2:135,721,021...136,137,814
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217956
NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:183,219,220...183,222,303
G
Mdm2
MDM2 proto-oncogene
ISO
DNA:amplification:cds (human)
RGD
PMID:1614537
RGD:2317412
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tumor (human)
RGD
PMID:7693339
RGD:2317532
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Sarcoma
ClinVar
PMID:16395668 PMID:18383312 PMID:19389263 PMID:22290698 PMID:24033266 PMID:25085752 PMID:25741868 PMID:26094658 PMID:26250988 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29458332 PMID:30093976 PMID:30131383 PMID:30998989 PMID:31391288 PMID:31569399 PMID:33357406 PMID:33471991 PMID:34426522 PMID:35264596 More...
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
G
Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601955
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:16024598
RGD:8657138
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
G
Pax3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:79,568,634...79,664,042
G
Pdhx
pyruvate dehydrogenase complex, component X
treatment
ISO
RGD
PMID:31089155
RGD:151660332
NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:89,371,497...89,431,773
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:21760628
RGD:6771216
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sarcoma
CTD ClinVar
PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:20601955 PMID:21078999 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23946963 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:37712948 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
G
Pramex1
PRAME like, X-linked 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179254
NCBI chr X:102,862,457...102,867,725
Ensembl chr X:98,569,415...98,572,096
G
Ptprb
protein tyrosine phosphatase, receptor type, B
treatment
ISO
RGD
PMID:31089155
RGD:151660332
NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26343384
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975
G
Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26343384
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
G
Srebf2
sterol regulatory element binding transcription factor 2
treatment
ISO
RGD
PMID:31089155
RGD:151660332
NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9794839 PMID:15675481 PMID:16767912 PMID:17203757
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
G
Tp53
tumor protein p53
treatment onset
ISO IMP
ClinVar Annotator: match by term: Sarcoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:9242456 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 PMID:19258306 PMID:19367569 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20601955 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24501221 PMID:24810334 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26822237 PMID:26845104 PMID:27146902 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28861920 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31321604 PMID:31775759 PMID:32000721 PMID:32906206 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 PMID:37653074 PMID:39060302 PMID:15118671 PMID:31089155 PMID:21854749 More...
RGD:1331525 , RGD:151660332 , RGD:11075090
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: FOXO1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
G
Pax3
paired box 3
ISO
DNA:translocations: (human) ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:32747562 PMID:15313887 More...
RGD:1580944
NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:79,568,634...79,664,042
G
Pax7
paired box 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
OMIM CTD ClinVar
PMID:25741868 PMID:31092906 PMID:32214227
NCBI chr 5:157,279,623...157,381,188
Ensembl chr 5:151,999,092...152,097,979
G
Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21245298
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
G
Wwtr1
WW domain containing transcription regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31494105
NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:141,648,108...141,766,968
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aspscr1
ASPSCR1 tether for SLC2A4, UBX domain containing
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:106,450,600...106,488,231
Ensembl chr10:105,952,227...105,989,904
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Creb1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816
G
Mettl21a
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma
ClinVar
PMID:25741868
NCBI chr 9:73,400,223...73,484,677
Ensembl chr 9:65,978,051...65,987,550
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Angpt2
angiopoietin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
G
Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Col18a1
collagen type XVIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9774950
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:13678655
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
G
Gja4
gap junction protein, alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:139,633,287...139,635,925
G
Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10930038
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
G
Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO
human cells in mouse model protein:increased expression:vasculature (human)
RGD
PMID:27531900 PMID:27531900
RGD:329955561 , RGD:329955561
NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340
G
Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008
NCBI chr 4:179,916,255...179,949,613
G
Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Angiosarcoma
ClinVar
PMID:26822237
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism associated with neoplasms, radiation-induced; DNA:amplification: (human)
CTD RGD
PMID:17569031 PMID:26440310
RGD:151665099
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
G
Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24633157
NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330
G
Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation:multiple (human) DNA:mutations:multiple (human)
CTD RGD
PMID:24633157 PMID:26440310 PMID:24633157
RGD:151665099 , RGD:151361292
NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:blood vessel
RGD
PMID:18700251
RGD:8694308
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
G
Tek
TEK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:109,607,077...109,733,804
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation:multiple (human)
CTD RGD
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310
RGD:151665099
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
G
Vegfc
vascular endothelial growth factor C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330
G
Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISS ISO
OMIM:609322 ClinVar Annotator: match by term: Teratoid tumor, atypical
MouseDO ClinVar
PMID:25741868
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor
ClinVar
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33300245 PMID:33840814 PMID:34529667 PMID:34670578 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Rhob
ras homolog family member B
IDA
RGD
PMID:1710770
RGD:704375
NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:31,363,548...31,366,108
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12454775 PMID:12533788 PMID:12610780 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14618615 PMID:14648717 PMID:14648718 PMID:14648719 PMID:14687034 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15803365 PMID:15810020 PMID:15818573 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16794575 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16883537 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17576681 PMID:17698850 PMID:17721994 PMID:18058223 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18381420 PMID:18484200 PMID:18571837 PMID:18706089 PMID:18725878 PMID:18725978 PMID:18759107 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19609724 PMID:19768534 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20223004 PMID:20417869 PMID:20713355 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21562711 PMID:21618645 PMID:21701879 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:21963792 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22114986 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22862163 PMID:22901170 PMID:22994785 PMID:23109706 PMID:23296741 PMID:23318652 PMID:23334666 PMID:23469205 PMID:23552953 PMID:23555315 PMID:23652375 PMID:23713947 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24082139 PMID:24113346 PMID:24123366 PMID:24390236 PMID:24506336 PMID:24556621 PMID:24595525 PMID:24599715 PMID:24628946 PMID:24713400 PMID:24728327 PMID:24763289 PMID:24880342 PMID:24884479 PMID:25085752 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452411 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25629968 PMID:25741868 PMID:25798211 PMID:25884806 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26084796 PMID:26094658 PMID:26270727 PMID:26446916 PMID:26467025 PMID:26483394 PMID:26506619 PMID:26534844 PMID:26580448 PMID:26644315 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27023146 PMID:27028851 PMID:27039729 PMID:27067391 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27273131 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27442652 PMID:27443514 PMID:27488870 PMID:27498913 PMID:27510020 PMID:27534895 PMID:27553368 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27708748 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27779110 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28082821 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28211887 PMID:28281021 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28569743 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28825054 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28888541 PMID:28944238 PMID:28961279 PMID:28981386 PMID:29020732 PMID:29095881 PMID:29212164 PMID:29335925 PMID:29338689 PMID:29351919 PMID:29356917 PMID:29368341 PMID:29406849 PMID:29439820 PMID:29470806 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29555771 PMID:29596542 PMID:29659569 PMID:29667044 PMID:29752822 PMID:29758562 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29909568 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30128536 PMID:30152102 PMID:30256826 PMID:30262796 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30580288 PMID:30613976 PMID:30666157 PMID:30672594 PMID:30676620 PMID:30680046 PMID:30826992 PMID:30851065 PMID:30858171 PMID:30927251 PMID:30980208 PMID:31050813 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31220302 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31341520 PMID:31360903 PMID:31398194 PMID:31409080 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31472684 PMID:31512090 PMID:31589614 PMID:31614935 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31786208 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31871297 PMID:31874108 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32029870 PMID:32091409 PMID:32119081 PMID:32227564 PMID:32243226 PMID:32255556 PMID:32283892 PMID:32285038 PMID:32295079 PMID:32310333 PMID:32338768 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32546565 PMID:32566746 PMID:32598223 PMID:32658311 PMID:32659967 PMID:32773770 PMID:32805687 PMID:32830346 PMID:32832836 PMID:32875559 PMID:32881420 PMID:32885271 PMID:32900738 PMID:32906215 PMID:32923877 PMID:32957588 PMID:32959997 PMID:32975687 PMID:33030641 PMID:33077847 PMID:33128190 PMID:33134171 PMID:33158149 PMID:33179747 PMID:33193653 PMID:33298767 PMID:33309985 PMID:33326660 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33606978 PMID:33670479 PMID:33692755 PMID:33726816 PMID:33803639 PMID:33804961 PMID:33850299 PMID:33919281 PMID:33925588 PMID:33980423 PMID:33986034 PMID:34008015 PMID:34072659 PMID:34130653 PMID:34271781 PMID:34282249 PMID:34299313 PMID:34308366 PMID:34326862 PMID:34404389 PMID:34426522 PMID:34433815 PMID:34570182 PMID:34622392 PMID:34630562 PMID:34637943 PMID:34903604 PMID:34933735 PMID:34992046 PMID:35053600 PMID:35127508 PMID:35128723 PMID:35132179 PMID:35174967 PMID:35220195 PMID:35245693 PMID:35264596 PMID:35350808 PMID:35402282 PMID:35418818 PMID:35441217 PMID:35451682 PMID:35467778 PMID:35495172 PMID:35534704 PMID:35643632 PMID:35866394 PMID:35886069 PMID:35957908 PMID:35980532 PMID:36011273 PMID:36035419 PMID:36136322 PMID:36222830 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36623239 PMID:36653541 PMID:36717774 PMID:36744932 PMID:36833268 PMID:36845387 PMID:36856935 PMID:36988593 PMID:37031196 PMID:37055167 PMID:37065479 PMID:37149759 PMID:37262986 PMID:37449874 PMID:37490054 PMID:37628581 PMID:37842866 PMID:37932350 PMID:38002677 PMID:38061684 PMID:38075165 PMID:38091153 PMID:38093606 PMID:38313678 PMID:39642869 More...
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Efemp2
EGF containing fibulin extracellular matrix protein 2
exacerbates disease_progression
ISO
mRNA, protein:increased expression:bone tissue (human ) protein:increased expression:bone tissue (human)
RGD
PMID:28339091 PMID:27157136
RGD:42722011 , RGD:42722013
NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414
G
Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 PMID:9311732 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10486322 PMID:10966849 PMID:12016586 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16269091 PMID:16449662 PMID:16463005 PMID:17096365 PMID:17960112 PMID:18000883 PMID:18677112 PMID:18682685 PMID:20041224 PMID:20447117 PMID:21763628 PMID:22205104 PMID:22328814 PMID:22963398 PMID:23532519 PMID:24225018 PMID:24688104 PMID:24791139 PMID:25525159 PMID:25602518 PMID:25741868 PMID:25754945 PMID:25758528 PMID:26396485 PMID:26530098 PMID:26580448 PMID:26787237 PMID:26925970 PMID:27582626 PMID:27983729 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 PMID:29261756 PMID:29568217 PMID:30031154 PMID:32218800 PMID:33493472 PMID:34294096 PMID:34308366 More...
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28975465 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29753700 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32475984 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37653074 PMID:39060302 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kdr
kinase insert domain receptor
ISO
DNA:mutation:multiple (human)
RGD
PMID:32123305
RGD:151665102
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
DNA:mutation:multiple (human)
RGD
PMID:32123305
RGD:151665102
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
G
Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
DNA:mutation:multiple (human)
RGD
PMID:32123305
RGD:151665102
NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15132766
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
G
Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15132766
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:24623741 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 PMID:30050099 PMID:30201732 PMID:31308404 PMID:32782288 PMID:34308366 PMID:34906457 PMID:36786389 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Chi3l1
chitinase 3 like 1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:12598313
RGD:4892624
NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787
G
Col2a1
collagen type II alpha 1 chain
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23770606 PMID:23770606
RGD:8657387
NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546
G
Ext1
exostosin glycosyltransferase 1
ISO
ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic CTD Direct Evidence: marker/mechanism mRNA:decreased expression:epiphyseal plate (human)
OMIM ClinVar CTD RGD
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15586175 PMID:16088908 PMID:16283885 PMID:17301954 PMID:18165274 PMID:18330718 PMID:19344451 PMID:19810120 PMID:20418910 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25541963 PMID:25727835 PMID:25741868 PMID:26239617 PMID:26961984 PMID:28170084 PMID:28492532 PMID:29126381 PMID:29529714 PMID:30806661 PMID:17226760 More...
RGD:13208235
NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357
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Fgfr3
fibroblast growth factor receptor 3
IEP
protein:increased expression:growth plate
RGD
PMID:17907424
RGD:11568634
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Mtor
mechanistic target of rapamycin kinase
disease_progression
IMP
RGD
PMID:22761648
RGD:10040952
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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Taf15
TATA-box binding protein associated factor 15
ISO
extraskeletal myxoid chondrosarcomas (EMC)
RGD
PMID:10602519
RGD:1599281
NCBI chr10:68,770,408...68,802,458
Ensembl chr10:68,272,969...68,304,949
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
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Igf2
insulin-like growth factor 2
disease_progression
ISO
RGD
PMID:17556377
RGD:2290454
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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Insr
insulin receptor
disease_progression
ISO
RGD
PMID:17556377
RGD:2290454
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Akr1c2
aldo-keto reductase family 1, member C2
ISO
ClinVar Annotator: match by term: CIC-rearranged sarcoma
ClinVar
PMID:21802064
NCBI chr17:70,669,684...70,717,935
Ensembl chr17:65,759,788...65,775,764
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
ClinVar Annotator: match by term: CIC-DUX Sarcoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774
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Usf3
upstream transcription factor family member 3
ISO
ClinVar Annotator: match by term: CIC-rearranged sarcoma
ClinVar
NCBI chr11:69,976,658...70,035,809
Ensembl chr11:56,476,122...56,529,884
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26098867
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 1:245,257,768...245,355,577
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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 chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chr10:79,883,622...79,900,624
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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 7:111,540,345...111,557,984
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Foxo3
forkhead box O3
ISS
OMIM:166950
MouseDO
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tnfrsf17
TNF receptor superfamily member 17
ISO
ClinVar Annotator: match by term: Desmoplastic small round cell tumor
ClinVar
PMID:26822237
NCBI chr10:4,808,023...4,813,857
Ensembl chr10:4,301,038...4,306,788
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15475955
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793134
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:47,272,331...49,504,207
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Myod1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793135
NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:96,884,948...96,887,554
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:26822237
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31494105
NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc22a18
solute carrier family 22, member 18
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:208,100,032...208,124,382
Ensembl chr 1:198,671,731...198,694,975
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Dicer1
dicer 1 ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
OMIM CTD ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26467025 PMID:26475046 PMID:26545620 PMID:26555935 PMID:26577641 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28524158 PMID:28873162 PMID:29399970 PMID:29883781 PMID:30014022 PMID:30097050 PMID:30178239 PMID:30446821 PMID:30672147 PMID:31838154 PMID:32714280 PMID:33158809 PMID:33718253 PMID:34291157 PMID:34313605 PMID:38084291 PMID:38874686 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:17525908
RGD:2292040
NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,573,412...17,591,480
G
Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
G
Sall4
spalt-like transcription factor 4
ISO
protein:increased expression:testis, nucleus (human)
RGD
PMID:23347651
RGD:11557983
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421
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Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:192,453,824...192,470,308
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
RGD
PMID:17367465
RGD:2292170
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
protein:decreased expression:epithelial cell:
RGD
PMID:19033866
RGD:155804293
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Cd99
CD99 molecule (Xg blood group)
ISO
ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present
ClinVar
PMID:25741868
NCBI chr20:56,000,494...56,005,140
G
Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
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Ciz1
CDKN1A interacting zinc finger protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17508423
NCBI chr 3:36,055,753...36,071,510
Ensembl chr 3:15,658,539...15,673,762
G
Egr2
early growth response 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214589
NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562
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Ewsr1
EWS RNA-binding protein 1
ISO
ClinVar Annotator: match by term: Ewing sarcoma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 PMID:1522903 More...
RGD:1598915
NCBI chr14:84,179,413...84,208,149
Ensembl chr14:79,965,368...79,994,544
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11772151 PMID:16646077 PMID:26214589
NCBI chr 8:39,089,526...39,209,511
Ensembl chr 8:30,832,753...30,950,433
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Kdm3a
lysine demethylase 3A
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:24362521
RGD:9590218
NCBI chr 4:105,189,208...105,233,526
Ensembl chr 4:103,630,908...103,675,073
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor
ClinVar
PMID:7607663 PMID:9385374 PMID:9463322 PMID:10607834 PMID:10712197 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:20301288 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:26467025 PMID:26962827 PMID:27322474 PMID:27838393 PMID:28492532 PMID:30290804 PMID:30530636 PMID:31347283 PMID:31730495 PMID:36988593 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Tspan31
tetraspanin 31
ISO
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
NCBI chr 7:64,774,881...64,783,534
Ensembl chr 7:62,889,552...62,898,388
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Agps
alkylglycerone phosphate synthase
IDA
RGD
PMID:7407223
RGD:1598794
NCBI chr 3:81,154,599...81,253,099
Ensembl chr 3:60,747,323...60,845,830
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Alb
albumin
ISO
mRNA,protein:decreased expression:liver,serum:
RGD
PMID:1900492
RGD:11035284
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9743294
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:2119881
RGD:10755752
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Kras
KRAS proto-oncogene, GTPase
IAGP
A to T transversion; Gln to His substitution
RGD
PMID:11295286
RGD:1598680
NCBI chr 4:179,916,255...179,949,613
G
Nras
NRAS proto-oncogene, GTPase
IAGP
DNA:transversion:exon p.Q61L (human)
RGD
PMID:11295286
RGD:1598680
NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626
G
Slc6a14
solute carrier family 6 member 14
IEP
mRNA, protein:increased expression:brush border epithelial cell
RGD
PMID:17006743
RGD:1625275
NCBI chr X:117,109,063...117,169,522
Ensembl chr X:112,314,691...112,375,096
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Ewing sarcoma of soft tissue
ClinVar
PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29263839 PMID:29642553 PMID:30583724 PMID:30680046 PMID:31428572 PMID:31658439 PMID:32099073 PMID:32179705 More...
NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:62,361,822...62,402,733
G
Taf15
TATA-box binding protein associated factor 15
ISO
ClinVar Annotator: match by term: Extraskeletal myxoid chondrosarcoma | ClinVar Annotator: match by term: TAF15-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr10:68,770,408...68,802,458
Ensembl chr10:68,272,969...68,304,949
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdc42
cell division cycle 42
ISO
RGD
PMID:17971488
RGD:5688275
NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111
G
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 chr13:82,195,463...82,317,363
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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 chr18:26,462,981...26,466,766
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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 chr16:7,765,013...7,835,587
G
Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601955
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
G
Serpine1
serpin family E member 1
severity
ISO
RGD
PMID:11059781
RGD:8547752
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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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 1:29,637,506...29,659,561
G
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 4:158,150,820...158,163,591
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
ClinVar
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Gestational trophoblastic neoplasia
ClinVar
PMID:21948117
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:69,616,601...69,660,558
G
Pou5f1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chr20:3,227,836...3,232,598
Ensembl chr20:3,223,129...3,227,891
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cga
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:49,487,068...49,499,191
G
Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
protein:increased expression:trophoblast, decidua:
RGD
PMID:32447180
RGD:155791666
NCBI chr10:88,304,992...88,352,229
Ensembl chr10:87,804,892...87,846,079
G
Khdc3
KH domain containing 3, subcortical maternal complex member
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydatidiform mole
CTD ClinVar
PMID:25741868
NCBI chr 8:82,722,980...82,724,884
Ensembl chr 8:73,842,344...73,844,248
G
Mlh1
mutL homolog 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
G
Msh2
mutS homolog 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:69,616,601...69,660,558
G
Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Msh2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
ClinVar
PMID:19066229 PMID:21507883 PMID:24105752
NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:69,715,535...69,754,050
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition
ClinVar
PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:19682372 PMID:21439709 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26544189 PMID:26956250 PMID:28166811 PMID:28492532 PMID:32484253 PMID:35842788 PMID:36001209 More...
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:69,616,601...69,660,558
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Khdc3
KH domain containing 3, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 | ClinVar Annotator: match by term: KHDC3L-related condition
OMIM ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 PMID:25741868 More...
NCBI chr 8:82,722,980...82,724,884
Ensembl chr 8:73,842,344...73,844,248
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mei1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30388401
NCBI chr 7:115,470,256...115,523,618
Ensembl chr 7:113,590,142...113,643,511
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Top6bl
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 | ClinVar Annotator: match by term: TOP6BL-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30388401
NCBI chr 1:211,331,973...211,419,015
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bptf
bromodomain PHD finger transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:28492532 PMID:38380509
NCBI chr10:92,480,007...92,582,485
Ensembl chr10:91,982,758...92,082,769
G
Fgfr2
fibroblast growth factor receptor 2
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:18804962
RGD:155663668
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kaposi's sarcoma
CTD OMIM ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:21665152
RGD:38599159
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
G
Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
G
Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:213,716,020...213,897,423
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Amhr2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:myometrium
RGD
PMID:17988723
RGD:2315651
NCBI chr 7:135,454,517...135,470,183
Ensembl chr 7:133,579,393...133,588,258
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
associated with Myometrial Neoplasms;protein:increased expression:myometrium
RGD
PMID:18156978
RGD:2296049
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Leiomyosarcoma
ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18381420 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26467025 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:33471991 PMID:35534704 PMID:36222830 PMID:36623239 PMID:36744932 PMID:37055167 PMID:37149759 More...
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9774950
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
G
Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793134
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:47,272,331...49,504,207
G
Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
Uterine
RGD
PMID:15823121
RGD:2289964
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
G
Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645019
NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
Uterine
RGD
PMID:17367465
RGD:2292170
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
G
Med12
mediator complex subunit 12
ISO
DNA:missense mutations:cds:
RGD
PMID:26891131
RGD:11353203
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645019
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
G
Tert
telomerase reverse transcriptase
ISO
mRNA:increased expression:myometrium
RGD
PMID:10652422
RGD:2298564
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
G
Usp18
ubiquitin specific peptidase 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26555296
NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:154,471,592...154,499,144
G
Xrn2
5'-3' exoribonuclease 2
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:24485798
RGD:11041788
NCBI chr 3:154,888,558...154,962,519
Ensembl chr 3:134,437,109...134,509,306
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdk4
cyclin-dependent kinase 4
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:20601955 PMID:23569312
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20372807
NCBI chr10:106,570,415...106,588,581
Ensembl chr10:106,072,091...106,090,261
G
Fus
Fus RNA binding protein
ISO
RGD
PMID:20332486
RGD:5509913
NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414
G
Il22
interleukin 22
ISS
MouseDO
NCBI chr 7:55,687,061...55,691,526
Ensembl chr 7:53,801,206...53,806,186
G
Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28036291
RGD:25314299
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
G
Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601955
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
G
Yeats4
YEATS domain containing 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20601955
NCBI chr 7:54,744,220...54,751,361
Ensembl chr 7:52,858,305...52,865,635
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccng1
cyclin G1
treatment
ISO
human cells in mouse model
RGD
PMID:9322869
RGD:151356969
NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,176,234...25,181,641
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chr16:56,546,207...56,633,743
G
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 chr14:58,861,144...59,512,656
G
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 7:108,423,455...108,430,619
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tp53
tumor protein p53
IMP
RGD
PMID:27528400
RGD:12738450
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Cd99
CD99 molecule (Xg blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr20:56,000,494...56,005,140
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
G
Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccr2
C-C motif chemokine receptor 2
ISO
associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte
RGD
PMID:20582977
RGD:8661751
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
G
Kras
KRAS proto-oncogene, GTPase
ISO
associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human)
RGD
PMID:23564351
RGD:11060142
NCBI chr 4:179,916,255...179,949,613
G
Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22348015
RGD:11075098
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ddit3
DNA-damage inducible transcript 3
ISO
DNA:translocation: ;t(12;16)(q13;p11) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1283316 PMID:7503811 PMID:8510758 PMID:1283316
RGD:1599726
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201
G
Fus
Fus RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7503811 PMID:8510758
NCBI chr 1:192,007,011...192,020,887
Ensembl chr 1:182,576,545...182,590,414
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kdr
kinase insert domain receptor
ISO
RGD
PMID:10554031
RGD:8552377
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
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 1:252,323,303...252,383,681
G
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 2:190,582,918...190,591,626
G
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 9:14,955,300...14,970,641
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cluap1
clusterin associated protein 1
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:26820066
NCBI chr10:12,094,346...12,159,440
Ensembl chr10:11,588,017...11,619,711
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
OMIM ClinVar
PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 PMID:12110640 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18456719 PMID:18628094 PMID:19047918 PMID:19358724 PMID:20147967 PMID:20570890 PMID:20652921 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21063026 PMID:21079152 PMID:21371307 PMID:22499344 PMID:22571758 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24033266 PMID:24629489 PMID:24720724 PMID:24803665 PMID:25251940 PMID:25623042 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26242988 PMID:26521233 PMID:26861459 PMID:26970110 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30289595 PMID:30443000 PMID:30448735 PMID:30544177 PMID:30891959 PMID:30902772 PMID:31891627 PMID:32934698 PMID:34114335 PMID:34117033 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
G
Nlrp5
NLR family, pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:20738330 PMID:26323243
NCBI chr 1:76,811,044...76,872,964
Ensembl chr 1:67,777,948...68,023,736
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Akap12
A-kinase anchoring protein 12
IEP
mRNA,protein:decreased expression:osteoblast:
RGD
PMID:19825367
RGD:5147850
NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:40,730,123...40,819,886
G
Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387997
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
G
Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21311599
NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690
G
Brca2
BRCA2, DNA repair associated
IAGP
DNA:nonsense mutation
RGD
PMID:16964288
RGD:1599505
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
G
Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24646477
NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,216,446...11,295,539
G
Cbl
Cbl proto-oncogene
ISO
protein:decreased expression:bone
RGD
PMID:22623369
RGD:126925238
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
G
Ccnb3
cyclin B3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387997
NCBI chr X:18,149,915...18,214,801
Ensembl chr X:15,478,065...15,542,885
G
Cdc5l
cell division cycle 5-like
ISO
DNA:amplification:cds (human)
RGD
PMID:18567798
RGD:10047050
NCBI chr 9:23,062,397...23,100,901
Ensembl chr 9:15,564,767...15,603,450
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Osteoblastic osteosarcoma
ClinVar
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9823374 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11518711 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:27993330 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 PMID:35001868 More...
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD ClinVar OMIM
PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12454775 PMID:12533788 PMID:12610780 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14618615 PMID:14648717 PMID:14648718 PMID:14648719 PMID:14687034 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15803365 PMID:15810020 PMID:15818573 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16794575 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16883537 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17576681 PMID:17698850 PMID:17721994 PMID:18058223 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18381420 PMID:18484200 PMID:18571837 PMID:18706089 PMID:18725878 PMID:18725978 PMID:18759107 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19609724 PMID:19768534 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20223004 PMID:20417869 PMID:20713355 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21562711 PMID:21618645 PMID:21701879 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:21963792 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22114986 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22862163 PMID:22901170 PMID:22994785 PMID:23109706 PMID:23296741 PMID:23318652 PMID:23334666 PMID:23469205 PMID:23552953 PMID:23555315 PMID:23652375 PMID:23713947 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24082139 PMID:24113346 PMID:24123366 PMID:24390236 PMID:24506336 PMID:24556621 PMID:24595525 PMID:24599715 PMID:24713400 PMID:24728327 PMID:24763289 PMID:24880342 PMID:24884479 PMID:25085752 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452411 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25629968 PMID:25741868 PMID:25798211 PMID:25884806 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26084796 PMID:26094658 PMID:26270727 PMID:26446916 PMID:26467025 PMID:26483394 PMID:26506619 PMID:26534844 PMID:26580448 PMID:26644315 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27023146 PMID:27028851 PMID:27039729 PMID:27067391 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27273131 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27442652 PMID:27443514 PMID:27488870 PMID:27498913 PMID:27510020 PMID:27534895 PMID:27553368 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27708748 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27779110 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28082821 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28211887 PMID:28281021 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28569743 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28825054 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28888541 PMID:28944238 PMID:28961279 PMID:28981386 PMID:29020732 PMID:29095881 PMID:29212164 PMID:29335925 PMID:29338689 PMID:29351919 PMID:29356917 PMID:29368341 PMID:29406849 PMID:29439820 PMID:29470806 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29555771 PMID:29596542 PMID:29659569 PMID:29667044 PMID:29752822 PMID:29758562 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29909568 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30128536 PMID:30152102 PMID:30256826 PMID:30262796 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30580288 PMID:30613976 PMID:30666157 PMID:30672594 PMID:30676620 PMID:30680046 PMID:30826992 PMID:30851065 PMID:30858171 PMID:30927251 PMID:30980208 PMID:31050813 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31220302 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31341520 PMID:31360903 PMID:31398194 PMID:31409080 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31472684 PMID:31512090 PMID:31589614 PMID:31614935 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31786208 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31874108 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32029870 PMID:32091409 PMID:32119081 PMID:32227564 PMID:32243226 PMID:32255556 PMID:32283892 PMID:32285038 PMID:32295079 PMID:32310333 PMID:32338768 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32546565 PMID:32566746 PMID:32598223 PMID:32658311 PMID:32659967 PMID:32773770 PMID:32805687 PMID:32830346 PMID:32832836 PMID:32875559 PMID:32881420 PMID:32885271 PMID:32900738 PMID:32906215 PMID:32923877 PMID:32957588 PMID:32959997 PMID:32975687 PMID:33030641 PMID:33077847 PMID:33128190 PMID:33134171 PMID:33158149 PMID:33179747 PMID:33193653 PMID:33298767 PMID:33309985 PMID:33326660 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33606978 PMID:33670479 PMID:33692755 PMID:33726816 PMID:33803639 PMID:33804961 PMID:33850299 PMID:33919281 PMID:33925588 PMID:33980423 PMID:33986034 PMID:34008015 PMID:34072659 PMID:34130653 PMID:34271781 PMID:34282249 PMID:34299313 PMID:34308366 PMID:34326862 PMID:34404389 PMID:34426522 PMID:34433815 PMID:34570182 PMID:34622392 PMID:34630562 PMID:34637943 PMID:34903604 PMID:34933735 PMID:34992046 PMID:35053600 PMID:35127508 PMID:35128723 PMID:35132179 PMID:35174967 PMID:35220195 PMID:35245693 PMID:35264596 PMID:35350808 PMID:35402282 PMID:35418818 PMID:35441217 PMID:35451682 PMID:35467778 PMID:35495172 PMID:35534704 PMID:35643632 PMID:35866394 PMID:35886069 PMID:35957908 PMID:35980532 PMID:36011273 PMID:36035419 PMID:36136322 PMID:36222830 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36623239 PMID:36653541 PMID:36717774 PMID:36744932 PMID:36833268 PMID:36845387 PMID:36856935 PMID:36988593 PMID:37031196 PMID:37055167 PMID:37065479 PMID:37149759 PMID:37262986 PMID:37449874 PMID:37490054 PMID:37628581 PMID:37842866 PMID:37932350 PMID:38002677 PMID:38061684 PMID:38075165 PMID:38091153 PMID:38093606 PMID:38313678 PMID:39642869 More...
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
IAGP
DNA:deletion (rat)
RGD
PMID:19825367
RGD:5147850
NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:12,312,160...12,314,897
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Cxcr4
C-X-C motif chemokine receptor 4
ameliorates
ISO
human cells in mouse model
RGD
PMID:31571016
RGD:152025557
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
G
Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17279585
NCBI chr12:14,321,771...14,343,886
Ensembl chr12:9,015,383...9,285,008
G
Ddr1
discoidin domain receptor tyrosine kinase 1
severity
ISO
protein:increased expression:bone (human) human cells in mouse model
RGD
PMID:29039472 PMID:29039472
RGD:151347601 , RGD:151347601
NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,044,320...3,064,468
G
Dhfr
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19159907
NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713
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E2f1
E2F transcription factor 1
severity
ISO
protein:increased expression:bone (human) human cells in mouse model
RGD
PMID:29039472 PMID:29039472
RGD:151347601 , RGD:151347601
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361
G
Efemp2
EGF containing fibulin extracellular matrix protein 2
exacerbates
ISO
human EFEMP2 knockdown cell line in a mouse model
RGD
PMID:28339091
RGD:42722011
NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414
G
Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22235915
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Egr1
early growth response 1
ISO
mRNA:decreased expression:tumor (human)
RGD
PMID:21283769
RGD:5131662
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
G
Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:97,672,766...97,706,225
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
severity
ISO
DNA:silent mutation:cds:p.N118N (human)
RGD
PMID:23098477
RGD:13207418
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
G
Esrra
estrogen related receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24967384 PMID:34524571
NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:204,104,101...204,114,268
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14767549 PMID:26265454
RGD:11532507
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
G
Folr1
folate receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17473184
NCBI chr 1:165,631,462...165,650,430
Ensembl chr 1:156,219,460...156,230,667
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Grm4
glutamate metabotropic receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23727862
NCBI chr20:5,486,024...5,574,668
Ensembl chr20:5,481,124...5,572,821
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Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:20577141
RGD:5135042
NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:195,607,289...195,612,475
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Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:20577141
RGD:5135042
NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:195,531,495...195,534,553
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152492
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Hdac6
histone deacetylase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34524571
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:14,551,044...14,572,441
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Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
treatment
ISO
RGD
PMID:19449377
RGD:13792789
NCBI chr X:24,568,551...24,571,012
Ensembl chr X:21,089,122...21,109,488
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Il3
interleukin 3
IMP
RGD
PMID:11268282
RGD:2317666
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645001
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
G
Kcnh1
potassium voltage-gated channel subfamily H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248279
NCBI chr13:106,253,101...106,555,712
Ensembl chr13:103,722,245...104,024,740
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23886186
NCBI chr18:48,162,889...48,175,640
Ensembl chr18:45,967,343...46,041,477
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Lzic
leucine zipper and CTNNBIP1 domain containing
IEP
RGD
PMID:19444910
RGD:2314410
NCBI chr 5:165,211,359...165,224,569
Ensembl chr 5:159,920,439...159,939,685
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22235915
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mir106b
microRNA 106b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22510560
NCBI chr12:22,157,053...22,157,134
Ensembl chr12:17,043,344...17,043,425
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Mir130b
microRNA 130b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22510560
NCBI chr11:97,384,380...97,384,461
Ensembl chr11:83,880,163...83,880,244
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Mir328
microRNA 328
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25605016
NCBI chr19:50,094,691...50,094,774
Ensembl chr19:33,184,766...33,184,849
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Mir494
microRNA 494
severity ameliorates
ISO
RGD
PMID:35117781 PMID:35117781
RGD:156430319 , RGD:156430319
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793
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Mir93
microRNA 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22510560
NCBI chr12:22,156,844...22,156,930
Ensembl chr12:17,043,135...17,043,221
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25605016
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
disease_progression
ISO
RGD
PMID:25503122
RGD:126848779
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Msh6
mutS homolog 6
disease_progression
ISO
RGD
PMID:25503122
RGD:126848779
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
G
Mst1r
macrophage stimulating 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22235915
NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:19159907
RGD:6893634
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24646477 PMID:34508303
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17279585
NCBI chr11:75,965,717...76,006,733
Ensembl chr11:62,460,213...62,496,658
G
Phlda2
pleckstrin homology-like domain, family A, member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22021909
NCBI chr 1:208,126,302...208,127,241
Ensembl chr 1:198,696,897...198,697,836
G
Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:muscle tissue (human)
RGD
PMID:22390931
RGD:11535057
NCBI chr X:102,862,457...102,867,725
Ensembl chr X:98,569,415...98,572,096
G
Prdx2
peroxiredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23911960
NCBI chr19:40,085,788...40,091,083
Ensembl chr19:23,180,930...23,186,194
G
Ptbp1
polypyrimidine tract binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34508303
NCBI chr 7:10,493,199...10,502,957
Ensembl chr 7:9,842,574...9,852,397
G
Pth
parathyroid hormone
ISO
human protein in rat model
RGD
PMID:22688001
RGD:7242897
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530
G
Ptprb
protein tyrosine phosphatase, receptor type, B
disease_progression
ISO
mRNA:decreased expression:bone (human)
RGD
PMID:31829261
RGD:151361289
NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
G
Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
PMID:27137931
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
G
Rfc1
replication factor C subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19159907
NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370
G
Rgs1
regulator of G-protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr13:58,568,844...58,573,187
Ensembl chr13:56,018,554...56,022,984
G
Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24646477 PMID:25307878
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167
G
Serpinf1
serpin family F member 1
treatment
ISO
human gene in rat model human protein in a mouse model
RGD
PMID:17479108 PMID:17458711
RGD:8633656 , RGD:8655561
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27793039
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
G
Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34508303
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
G
Taf15
TATA-box binding protein associated factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr10:68,770,408...68,802,458
Ensembl chr10:68,272,969...68,304,949
G
Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937
G
Tp53
tumor protein p53
ISO ISS IMP
CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM:259500
CTD OMIM ClinVar MouseDO RGD
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16211088 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27137931 PMID:27146902 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29753700 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37653074 PMID:39060302 PMID:27528400 More...
RGD:12738450
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20158913
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
G
Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28107196
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
G
Zmiz1
zinc finger, MIZ-type containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34508303
NCBI chr16:1,033,983...1,239,425
Ensembl chr16:1,027,325...1,232,597
G
Zw10
zw10 kinetochore protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr 8:58,292,959...58,317,881
Ensembl chr 8:49,396,545...49,421,805
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: High grade surface osteosarcoma
ClinVar
PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:18716613 PMID:20113479 PMID:25741868 PMID:28492532 PMID:29367366 PMID:31829210 More...
NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
severity
ISO
RGD
PMID:17090194
RGD:2289654
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
G
Ctnnb1
catenin beta 1
ISO
protein:increased expression:nucleus
RGD
PMID:12898599
RGD:2289832
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Egfr
epidermal growth factor receptor
disease_progression
ISO
protein:increased expression:tumor
RGD
PMID:11206334
RGD:2289951
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
G
Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:11206334
RGD:2289951
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
G
Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:11206334
RGD:2289951
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
G
Flna
filamin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
G
Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:breast (human)
RGD
PMID:16168127
RGD:8694472
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
Kit
KIT proto-oncogene receptor tyrosine kinase
severity
ISO
RGD
PMID:15044924
RGD:2292419
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
G
Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
G
Nos3
nitric oxide synthase 3
ISO
protein:increased expression:breast
RGD
PMID:15917410
RGD:2292077
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
G
Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:10374321
RGD:2315010
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
G
Rara
retinoic acid receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr10:84,379,780...84,424,371
Ensembl chr10:83,893,384...83,928,142
G
Rb1
RB transcriptional corepressor 1
severity
ISO
protein:increased expression:breast
RGD
PMID:15981808
RGD:2299889
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437033
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
G
Tfrc
transferrin receptor
ISO
protein:increased expression:myoepithelial cell
RGD
PMID:2174150
RGD:2292026
NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257
G
Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:16889904
RGD:2290545
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gpc3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Klk1c10
kallikrein 1-related peptidase C10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22360509
NCBI chr 1:103,539,527...103,543,586
Ensembl chr 1:94,402,993...94,407,052
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034
G
Angpt2
angiopoietin 2
IEP
protein:increased expression:blood vessel (rat)
RGD
PMID:17849463
RGD:2314204
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 PMID:22923021 PMID:23397983 PMID:23635950 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26306726 PMID:26467025 PMID:26852130 PMID:28492532 PMID:28740454 PMID:30940100 PMID:32772980 More...
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
G
Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 PMID:11897832 PMID:11920621 PMID:12442265 PMID:12569143 PMID:12774040 PMID:15024741 PMID:15645491 PMID:15800615 PMID:16234499 PMID:16683254 PMID:16912212 PMID:17574839 PMID:17688236 PMID:18465347 PMID:18489799 PMID:19016756 PMID:19563646 PMID:19620486 PMID:20104584 PMID:21318380 PMID:21324516 PMID:21465317 PMID:21520333 PMID:21643751 PMID:21702907 PMID:21719596 PMID:21952622 PMID:22006311 PMID:22752604 PMID:22762150 PMID:22798144 PMID:23199084 PMID:23479189 PMID:23531862 PMID:24156927 PMID:24249303 PMID:24259538 PMID:24333842 PMID:24504028 PMID:24528374 PMID:24578176 PMID:24728189 PMID:24814045 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25863477 PMID:26187060 PMID:26221963 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26306726 PMID:26360800 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26787237 PMID:27062684 PMID:27153395 PMID:27157322 PMID:27836010 PMID:28176296 PMID:28324225 PMID:28492532 PMID:28724667 PMID:28831036 PMID:28993434 PMID:29084914 PMID:29321669 PMID:29325860 PMID:29339979 PMID:29348823 PMID:29368341 PMID:29446198 PMID:29489754 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29758562 PMID:29907814 PMID:30040829 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30548481 PMID:30612635 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:31214711 PMID:31263571 PMID:31360904 PMID:31446535 PMID:31447099 PMID:31589614 PMID:31825140 PMID:32164353 PMID:32255556 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32719484 PMID:32778078 PMID:32782288 PMID:32824581 PMID:32853339 PMID:32885271 PMID:32923906 PMID:33087929 PMID:33372952 PMID:33471991 PMID:33599307 PMID:33670479 PMID:33801055 PMID:34022715 PMID:34072659 PMID:34399810 PMID:34657373 PMID:34680387 PMID:34687993 PMID:35205366 PMID:36292577 PMID:36721989 PMID:36988593 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
G
Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
IEP
RGD
PMID:7053379
RGD:10755426
NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861
G
Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:25952305 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 More...
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
IDA
DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle
RGD
PMID:21565688
RGD:8552662
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19509271
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
G
Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 PMID:28492532 PMID:28624956 PMID:28862265 PMID:30266945 PMID:33372952 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
G
Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7981680
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 PMID:15849733 PMID:15872200 PMID:16216036 PMID:16736289 PMID:16996571 PMID:18270343 PMID:19731080 PMID:21642682 PMID:22034109 PMID:23990280 PMID:24344984 PMID:24362816 PMID:24549055 PMID:24851142 PMID:25117503 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27601186 PMID:28492532 PMID:28874130 PMID:30521064 PMID:31054147 PMID:31615790 PMID:33359728 PMID:33484353 PMID:36593122 More...
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 PMID:29750335 PMID:29755653 PMID:30128536 PMID:31100584 PMID:31965077 PMID:33467402 More...
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:8302341 PMID:9180088 PMID:9536098 PMID:9783703 PMID:10090487 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10862084 PMID:10980545 PMID:11258625 PMID:11857752 PMID:12112660 PMID:12566521 PMID:12746402 PMID:12807981 PMID:16690971 PMID:16937374 PMID:16944272 PMID:16961930 PMID:17426081 PMID:17576681 PMID:17668375 PMID:18041031 PMID:18484666 PMID:18546366 PMID:19076627 PMID:19221814 PMID:19292874 PMID:19738042 PMID:20015894 PMID:20301288 PMID:21354044 PMID:22155606 PMID:22190595 PMID:23222849 PMID:23404336 PMID:23460398 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24789688 PMID:24932921 PMID:25324867 PMID:25325900 PMID:25741868 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26740943 PMID:26908603 PMID:26969325 PMID:26973730 PMID:27069254 PMID:27074763 PMID:27171602 PMID:27322474 PMID:27482814 PMID:27838393 PMID:28422438 PMID:28492532 PMID:29522274 PMID:29673180 PMID:29872168 PMID:29914388 PMID:30014477 PMID:31533797 PMID:31717729 PMID:31776437 PMID:32107864 PMID:32860008 PMID:33372952 PMID:34080803 PMID:34427956 PMID:34694046 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD ClinVar
PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 PMID:16507833 PMID:18602922 PMID:18824584 PMID:19092773 PMID:19293170 PMID:20205264 PMID:20581245 PMID:21356188 PMID:21618646 PMID:23012243 PMID:25512458 PMID:25525159 PMID:25691505 PMID:25741868 PMID:26110232 PMID:26895986 PMID:27435373 PMID:28492532 PMID:28805995 PMID:31433215 PMID:32773772 PMID:32876971 PMID:34048176 PMID:34897210 More...
NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD ClinVar RGD
PMID:19155313 PMID:33372952 PMID:19321799
RGD:150523834
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 PMID:11332402 PMID:11918710 PMID:16773562 PMID:17286265 PMID:20301661 PMID:21194675 PMID:21956414 PMID:22266152 PMID:22381246 PMID:23335809 PMID:23470840 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24345843 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29594054 PMID:30614812 PMID:30659124 PMID:33083010 PMID:33372952 PMID:36988593 More...
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptma
prothymosin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16669873
NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:87,176,230...87,180,333
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25488574 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:26722403 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:32971818 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 PMID:28492532 PMID:33372952 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
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Slc22a18
solute carrier family 22, member 18
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic
ClinVar
PMID:9520460
NCBI chr 1:208,100,032...208,124,382
Ensembl chr 1:198,671,731...198,694,975
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Timm10
translocase of inner mitochondrial membrane 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16669873
NCBI chr 3:90,315,048...90,318,613
Ensembl chr 3:69,908,456...69,911,940
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1978757 PMID:2046748 PMID:2750177 PMID:7706467 PMID:7732013 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8364550 PMID:8423216 PMID:8633021 PMID:9067756 PMID:9242456 PMID:9285560 PMID:9399838 PMID:9446663 PMID:9470817 PMID:9536098 PMID:9546439 PMID:9681828 PMID:9704930 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519384 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11420676 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920959 PMID:12610779 PMID:12672316 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16199547 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17540308 PMID:17576681 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18628487 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20407015 PMID:20455025 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21445056 PMID:21464421 PMID:21483000 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21665242 PMID:21761402 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22319594 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23538418 PMID:23625637 PMID:23639312 PMID:23894400 PMID:24033266 PMID:24307375 PMID:24382691 PMID:24501221 PMID:24549055 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24728327 PMID:24764719 PMID:24810334 PMID:25326637 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26086041 PMID:26206375 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26628864 PMID:26681312 PMID:26681682 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28861920 PMID:28873162 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30224644 PMID:30262806 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30816478 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32295079 PMID:32427313 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:34540492 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116481
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Ring dermoid of cornea CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15378534 PMID:15591271 PMID:21052876 PMID:22224469 PMID:22569110 PMID:25741868 PMID:26220699 PMID:27013732 PMID:28492532 PMID:29664915 PMID:32499604 PMID:35882526 More...
NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ewsr1
EWS RNA-binding protein 1
ISO
ClinVar Annotator: match by term: EWSR1-related condition
ClinVar
PMID:28492532
NCBI chr14:84,179,413...84,208,149
Ensembl chr14:79,965,368...79,994,544
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Dpyd
dihydropyrimidine dehydrogenase
treatment
IMP
RGD
PMID:8138551
RGD:11251753
NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mir222
microRNA 222
IEP
RNA:increased expression: triceps surae muscle
RGD
PMID:23447020
RGD:151893488
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Spindle cell sarcoma
ClinVar
PMID:28890946
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16450387
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Shcbp1
SHC binding and spindle associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27572315
NCBI chr16:91,373,843...91,405,409
Ensembl chr16:84,672,321...84,703,844
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
RGD
PMID:26520417
RGD:11069485
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
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Ss18
SS18 subunit of BAF chromatin remodeling complex
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9428816 PMID:27572315 PMID:7951320
RGD:1599184
NCBI chr18:6,047,619...6,169,151
Ensembl chr18:5,773,042...5,835,333
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Ssx1
SSX family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9428816 PMID:27572315
NCBI chr X:16,603,888...16,612,203
Ensembl chr X:13,931,470...13,939,720
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15043115
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,573,412...17,591,480
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Dab2
DAB adaptor protein 2
ISO
ClinVar Annotator: match by term: Teratocarcinoma
ClinVar
PMID:25741868
NCBI chr 2:57,241,947...57,294,893
Ensembl chr 2:55,514,700...55,567,476
G
Dnd1
DND microRNA-mediated repression inhibitor 1
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
NCBI chr18:28,652,712...28,655,336
Ensembl chr18:28,378,692...28,381,316
G
Dnd1ter
DND microRNA-mediated repression inhibitor 1, ter mutant
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
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H19
H19 imprinted maternally expressed transcript
ISO
RGD
PMID:18719115
RGD:2306169
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aff1
ALF transcription elongation factor 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:6,165,864...6,328,848
Ensembl chr14:5,863,961...6,024,729
G
Arhgef10l
Rho guanine nucleotide exchange factor 10 like
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 5:158,075,370...158,218,358
Ensembl chr 5:152,792,252...152,919,538
G
Bax
BCL2 associated X, apoptosis regulator
disease_progression
ISO
RGD
PMID:17390059
RGD:2296025
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
G
Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:127,190,059...127,300,502
G
Creb3l1
cAMP responsive element binding protein 3-like 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 3:98,408,240...98,449,104
Ensembl chr 3:77,952,540...77,993,456
G
Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
G
Cripto
cripto, EGF-CFC family member
treatment
ISO
RGD
PMID:20641036
RGD:11561895
NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:110,925,024...110,930,308
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Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 8:53,827,661...53,864,538
Ensembl chr 8:44,931,974...44,964,405 Ensembl chr 8:44,931,974...44,964,405
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Epas1
endothelial PAS domain protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
G
Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
G
Etnk1
ethanolamine kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:177,857,001...177,901,278
Ensembl chr 4:176,126,180...176,193,770
G
Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770
G
H19
H19 imprinted maternally expressed transcript
ISO
RGD
PMID:10521301
RGD:2306183
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
G
Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416
G
Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:179,916,255...179,949,613
G
Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640
G
Nanog
Nanog homeobox
severity
ISO
mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell
RGD
PMID:20817694
RGD:9681441
NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:155,943,737...155,951,116
G
Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
DNA:deletion
RGD
PMID:7518576
RGD:2299072
NCBI chr10:79,403,939...79,426,620
Ensembl chr10:78,906,083...78,916,408
G
Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
DNA:deletion
RGD
PMID:7518576
RGD:2299072
NCBI chr10:79,394,999...79,400,418
Ensembl chr10:78,897,770...78,903,538 Ensembl chr20:78,897,770...78,903,538
G
Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:67,777,381...67,789,744
G
Pgm1
phosphoglucomutase 1
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:114,595,293...114,654,728
G
Pgm3
phosphoglucomutase 3
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chr 8:96,398,331...96,416,045
Ensembl chr 8:87,517,701...87,536,022
G
Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr11:77,179,190...77,281,270
Ensembl chr11:63,673,816...63,775,878
G
Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
RGD
PMID:23575676
RGD:151660354
NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
G
Rabep1
rabaptin, RAB GTPase binding effector protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:56,064,742...56,168,778
Ensembl chr10:55,566,185...55,665,973
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
G
Slc45a3
solute carrier family 45, member 3
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr13:45,959,467...45,979,763
Ensembl chr13:43,407,293...43,427,588
G
Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:58,060,689...58,459,926
Ensembl chr 4:57,095,208...57,530,843
G
Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr X:16,603,888...16,612,203
Ensembl chr X:13,931,470...13,939,720
G
Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:65,464,948...65,510,846
Ensembl chr10:64,966,967...65,012,738
G
Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression
RGD
PMID:12168080
RGD:2298558
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
G
Trrap
transformation/transcription domain-associated protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
PMID:25741868
NCBI chr12:14,851,758...14,941,444
Ensembl chr12:9,738,006...9,827,674
G
Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
G
Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:192,453,824...192,470,308
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ang
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:12705339
RGD:2325706
NCBI chr15:26,786,233...26,796,883
G
Kiss1
KiSS-1 metastasis-suppressor
ISO
Gestational Trophoblastic Neoplasms, MeSH:D031901
RGD
PMID:16757546
RGD:2292132
NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
RGD
PMID:16803529
RGD:2296053
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
Uterine Carcinosarcoma
RGD
PMID:17367465
RGD:2292170
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
G
Prom1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21919130
NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tes
testin LIM domain protein
ameliorates
ISO
RGD
PMID:15701871
RGD:597621683
NCBI chr 4:46,331,257...46,369,782
Ensembl chr 4:45,365,285...45,403,829
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