RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Complex and Mixed Neoplasms
Accession: DOID:9003765
browse the term
Definition: Neoplasms composed of more than one type of neoplastic tissue.
Synonyms: primary_id: MESH:D018193
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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Ifitm1
interferon induced transmembrane protein 1
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:205,496,757...205,498,796
Ensembl chr 1:196,067,963...196,069,169
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Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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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
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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
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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
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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
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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
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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
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Ar
androgen receptor
ISO
protein:decreased expression:sertoli cell
RGD
PMID:16245160
RGD:1643343
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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Dcdc1-ps1
doublecortin domain containing 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:112,940,793...113,351,417
Ensembl chr 3:92,718,047...92,896,542
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Dnajc24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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Immp1l
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:112,840,015...112,904,297
Ensembl chr 3:92,385,379...92,452,313
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Rcn1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:112,295,838...112,310,082
Ensembl chr 3:91,841,052...91,855,295
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Wt1
WT1 transcription factor
ISO ISS
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM:194080 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8388765 PMID:8411073 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10505699 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15349765 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16439601 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17551084 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18516627 PMID:18559874 PMID:18591546 PMID:18618575 PMID:18644976 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22815844 PMID:22876585 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25688735 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26090994 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26467726 PMID:26661695 PMID:26725263 PMID:26882358 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30221469 PMID:30406062 PMID:30655312 PMID:30668521 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32719394 PMID:32891756 PMID:33226606 PMID:33742552 PMID:34031707 PMID:34386660 PMID:34392242 PMID:34490048 PMID:34622098 PMID:34727091 PMID:35211794 PMID:35535697 PMID:35655039 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36349777 PMID:36964972 PMID:36980135 PMID:38054408 PMID:38219185 PMID:12161615 More...
RGD:1580624
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,239,550...128,275,833
Ensembl chr 6:122,474,756...122,510,854
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Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:127,685,185...127,774,947
Ensembl chr 6:121,923,023...121,972,405
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Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
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Ddx24
DEAD-box helicase 24
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: DICER1 syndrome
OMIM ClinVar
PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 PMID:16095561 PMID:16199547 PMID:17576681 PMID:17920623 PMID:17923214 PMID:18453628 PMID:18570301 PMID:19556464 PMID:21036787 PMID:21205968 PMID:21266384 PMID:21346072 PMID:21501861 PMID:21882293 PMID:22157934 PMID:22180160 PMID:22187960 PMID:22546613 PMID:22717647 PMID:23027947 PMID:23068969 PMID:23132766 PMID:23418872 PMID:23547758 PMID:23620094 PMID:23622242 PMID:23728841 PMID:23868280 PMID:24033266 PMID:24065110 PMID:24136150 PMID:24151152 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24628552 PMID:24675358 PMID:24676357 PMID:24708902 PMID:24728327 PMID:24823459 PMID:24839956 PMID:24909177 PMID:24909261 PMID:25022261 PMID:25118636 PMID:25176334 PMID:25190313 PMID:25231023 PMID:25348012 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25526195 PMID:25640679 PMID:25670082 PMID:25670083 PMID:25741868 PMID:25803323 PMID:25836323 PMID:25998712 PMID:26033159 PMID:26033501 PMID:26241669 PMID:26289771 PMID:26408257 PMID:26428316 PMID:26461232 PMID:26467025 PMID:26475046 PMID:26517685 PMID:26526666 PMID:26545620 PMID:26555935 PMID:26556299 PMID:26566882 PMID:26577641 PMID:26580448 PMID:26592504 PMID:26666178 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:26983701 PMID:27036314 PMID:27050224 PMID:27126690 PMID:27459524 PMID:27494611 PMID:27664536 PMID:27697588 PMID:27784193 PMID:27819237 PMID:27830405 PMID:27896549 PMID:27930734 PMID:28007021 PMID:28012864 PMID:28097783 PMID:28177962 PMID:28202063 PMID:28222777 PMID:28323992 PMID:28459098 PMID:28492532 PMID:28502826 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28688118 PMID:28748527 PMID:28766837 PMID:28825729 PMID:28834809 PMID:28862265 PMID:28873162 PMID:28960912 PMID:29037807 PMID:29187512 PMID:29315962 PMID:29351919 PMID:29395683 PMID:29399970 PMID:29459759 PMID:29469200 PMID:29474644 PMID:29538609 PMID:29625052 PMID:29633305 PMID:29641532 PMID:29660837 PMID:29706542 PMID:29708584 PMID:29726952 PMID:29753010 PMID:29762508 PMID:29881993 PMID:29883781 PMID:29938629 PMID:29943907 PMID:29945567 PMID:30014022 PMID:30072170 PMID:30093976 PMID:30097050 PMID:30178239 PMID:30260442 PMID:30266945 PMID:30339877 PMID:30446821 PMID:30585947 PMID:30597651 PMID:30649606 PMID:30665929 PMID:30672147 PMID:30989777 PMID:31067372 PMID:31278746 PMID:31285663 PMID:31296931 PMID:31300551 PMID:31342592 PMID:31417090 PMID:31820118 PMID:31838154 PMID:31883967 PMID:31900434 PMID:31911633 PMID:32291395 PMID:32371905 PMID:32692439 PMID:32714280 PMID:32729194 PMID:32973888 PMID:33158809 PMID:33208384 PMID:33372952 PMID:33460435 PMID:33484847 PMID:33606809 PMID:33630087 PMID:33718253 PMID:33729574 PMID:33767345 PMID:33782093 PMID:34291157 PMID:34313605 PMID:34761719 PMID:34913555 PMID:35194848 PMID:35728810 PMID:35739269 PMID:37248399 PMID:37333613 PMID:38084291 PMID:38136308 PMID:38874686 PMID:39001563 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
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Gsc
goosecoid homeobox
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:129,152,836...129,154,875
Ensembl chr 6:123,388,072...123,390,111
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Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,355,312...128,361,783
Ensembl chr 6:122,590,472...122,779,294
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Ifi27l2a
interferon, alpha-inducible protein 27 like 2A
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,363,658...128,365,144
Ensembl chr 6:122,598,872...122,600,360
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Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
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Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,427,884...128,518,776
Ensembl chr 6:122,663,344...122,753,384
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Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339
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Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,520,894...128,529,332
Ensembl chr 6:122,756,108...122,764,544
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Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,668,030...128,677,476
Ensembl chr 6:122,903,250...122,912,670
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Serpina12
serpin family A member 12
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,717,334...128,732,049
Ensembl chr 6:122,952,552...122,967,271
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Serpina1f
serpin family A member 1F
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,585,697...128,591,902
Ensembl chr 6:122,820,907...122,827,112
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Serpina3n
serpin family A member 3N
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433
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Serpina4
serpin family A member 4
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,764,738...128,773,858
Ensembl chr 6:122,999,900...123,009,082
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Serpina5
serpin family A member 5
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,774,006...128,793,187
Ensembl chr 6:123,023,306...123,028,407
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Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,544,828...128,555,064
Ensembl chr 6:122,780,043...122,790,349
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Serpina9
serpin family A member 9
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,683,650...128,700,784
Ensembl chr 6:122,918,880...122,936,000
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Ubr7
ubiquitin protein ligase E3 component n-recognin 7
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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Unc79
unc-79 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:127,841,671...128,092,380
Ensembl chr 6:122,080,308...122,327,591
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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
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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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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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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
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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
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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
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: GLOW SYNDROME | ClinVar Annotator: match by term: GLOW Syndrome
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 PMID:21266384 PMID:21882293 PMID:23620094 PMID:23728841 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24675358 PMID:24676357 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25190313 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25670082 PMID:25741868 PMID:25836323 PMID:26033159 PMID:26461232 PMID:26467025 PMID:26475046 PMID:26555935 PMID:26556299 PMID:26577641 PMID:26580448 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:27126690 PMID:27459524 PMID:27819237 PMID:27930734 PMID:28012864 PMID:28097783 PMID:28177962 PMID:28222777 PMID:28323992 PMID:28492532 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28748527 PMID:28825729 PMID:28862265 PMID:28960912 PMID:29315962 PMID:29399970 PMID:29881993 PMID:29883781 PMID:29945567 PMID:30014022 PMID:30178239 PMID:30266945 PMID:30649606 PMID:30672147 PMID:31342592 PMID:31820118 PMID:31838154 PMID:31900434 PMID:31911633 PMID:32714280 PMID:33158809 PMID:33630087 PMID:33718253 PMID:33729574 PMID:33782093 PMID:34291157 PMID:38084291 PMID:38136308 PMID:38874686 PMID:39001563 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 PMID:17293347 PMID:20685668 PMID:22135120 PMID:27081525 PMID:28492532 PMID:35495172 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Apoa1
apolipoprotein A1
ISO
mRNA, protein:decreased expression:serum (human)
RGD
PMID:27974108
RGD:25671440
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:26822237
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 PMID:21665257 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26837699 PMID:27913932 PMID:28492532 PMID:28779002 PMID:29522266 PMID:29659569 PMID:30256826 PMID:30303537 PMID:30995915 PMID:31780696 PMID:32325837 PMID:33128190 PMID:33359728 PMID:33436325 PMID:33471991 PMID:34262154 PMID:34646395 PMID:35264596 PMID:35495172 PMID:35980532 PMID:36099812 PMID:37436117 PMID:39085400 More...
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Axin2
axin 2
ISO
protein:increased expression:liver:
RGD
PMID:11809809
RGD:151356508
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 PMID:35495172 PMID:35534704 PMID:36187937 More...
NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 PMID:21120943 PMID:21769658 PMID:23056405 PMID:23893897 PMID:24884479 PMID:25085752 PMID:25348012 PMID:25741868 PMID:26467025 PMID:26933808 PMID:27741520 PMID:28492532 PMID:30212499 PMID:31131967 PMID:31911673 PMID:33471991 PMID:33643918 PMID:35039564 PMID:35495172 PMID:35980532 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 PMID:28492532 PMID:29522266 PMID:33471991 PMID:35495172 PMID:36099812 PMID:39085400 More...
NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
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Cdh1
cadherin 1
ISO
protein:increased expression:liver
RGD
PMID:16465411
RGD:14402053
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cldn1
claudin 1
severity
IEP
mRNA,protein:decreased expression:liver, embryonic tissue (human)
RGD
PMID:16647953
RGD:26884349
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatoblastoma protein:increased expression:cytoplasm,nucleus:
CTD ClinVar RGD
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:21237236 PMID:23265383 PMID:25741868 PMID:26822237 PMID:10398436 More...
RGD:14402054
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Dhcr7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 PMID:24813812 PMID:25741868 PMID:27401223 PMID:28250423 PMID:28492532 PMID:29300326 More...
NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:199,015,081...199,031,055
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Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532 PMID:35495172
NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:222,649,309...222,842,474
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Dpep1
dipeptidase 1
ameliorates
ISO
human cells in mouse model
RGD
PMID:31541079
RGD:153344539
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Drosha
drosha ribonuclease III
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:61,864,970...61,976,688
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ext2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059
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Fah
fumarylacetoacetate hydrolase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 1:147,957,931...147,980,708
Ensembl chr 1:138,548,834...138,571,505
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255
NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 PMID:29351780 PMID:32522261 PMID:35495172 More...
NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:83,127,093...83,180,028
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Fas
Fas cell surface death receptor
ISO
mRNA,protein:increased expression:hepatocyte: ClinVar Annotator: match by term: Hepatoblastoma
ClinVar RGD
PMID:28492532 PMID:10398166
RGD:14700699
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532 PMID:35495172
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Flcn
folliculin
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172
NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
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Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868
NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:174,609,403...174,618,263
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Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712
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Gpc3
glypican 3
ISO
protein:increased expression:liver (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23958494
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:36965188
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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Jmjd1c
jumonji domain containing 1C
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:27666373 PMID:28492532
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mir193a
microRNA 193a
exacerbates
ISO
RNA:decreased expression:liver (human)
RGD
PMID:31541079
RGD:153344539
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mir21
microRNA 21
ISO
miRNA:increased expression:plasma, extracellular exosome
RGD
PMID:27601233
RGD:14695023
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mir34a
microRNA 34a
severity
ISO
miRNA:increased expression:liver
RGD
PMID:27046304
RGD:14695006
NCBI chr 5:165,815,952...165,816,053
Ensembl chr 5:160,533,002...160,533,103
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Mki67
marker of proliferation Ki-67
ameliorates
ISO
human cells in mouse model
RGD
PMID:31541079
RGD:153344539
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
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
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532 PMID:35264596
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
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Nap1l1
nucleosome assembly protein 1-like 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:12935928
RGD:9590075
NCBI chr 7:48,819,464...48,844,108
Ensembl chr 7:46,933,356...46,956,593
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Ndrg4
NDRG family member 4
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr19:9,357,470...9,393,465
Ensembl chr19:9,351,404...9,386,914
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Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr15:33,302,778...33,325,120
Ensembl chr15:29,332,869...29,355,215
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11560253
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Recql
RecQ like helicase
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 4:177,039,351...177,063,968
Ensembl chr 4:175,304,117...175,332,945
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619
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Ren
renin
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
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Rhbdf2
rhomboid 5 homolog 2
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr10:102,331,991...102,359,117
Ensembl chr10:101,833,157...101,860,283
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12586610 PMID:25741868 PMID:28492532 PMID:37897121
NCBI chr 1:89,608,408...89,614,390
Ensembl chr 1:80,480,951...80,486,508 Ensembl chr 7:80,480,951...80,486,508
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Sall1
spalt-like transcription factor 1
ISO
embryonal subtype;protein:increased expression:liver, nucleus (human)
RGD
PMID:23822878
RGD:11556217
NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705
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Sall4
spalt-like transcription factor 4
ISO
Embryonal Hepatoblastoma;protein:increased expression:liver (human)
RGD
PMID:23822878
RGD:11556217
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:20404132 PMID:25741868
NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616
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Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
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Smo
smoothened, frizzled class receptor
ISO
protein:increased expression:liver
RGD
PMID:21159571
RGD:150521618
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
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Spop
speckle type BTB/POZ protein
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:24912477
RGD:153298925
NCBI chr10:80,854,890...80,935,781
Ensembl chr10:80,358,124...80,483,955
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11560253
NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 PMID:19556618 PMID:20128691 PMID:20586629 PMID:21343334 PMID:22887876 PMID:23031740 PMID:23259501 PMID:25584008 PMID:25741868 PMID:26467025 PMID:26585234 PMID:26911350 PMID:27189670 PMID:28279309 PMID:28492532 PMID:28975465 PMID:29070607 PMID:29979965 PMID:30224644 PMID:31775759 PMID:32475984 PMID:32817165 PMID:33087929 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:9829912 PMID:10340905 PMID:10567493 PMID:10612827 PMID:10761708 PMID:11106358 PMID:11257211 PMID:11739384 PMID:12056827 PMID:12202531 PMID:12414898 PMID:15177666 PMID:15300849 PMID:19228690 PMID:19574279 PMID:19906784 PMID:20447124 PMID:22234250 PMID:23990664 PMID:23990666 PMID:24033266 PMID:24055113 PMID:24969085 PMID:25637381 PMID:25741868 PMID:26211615 PMID:26467025 PMID:27051783 PMID:27146957 PMID:27527340 PMID:27930734 PMID:28492532 PMID:28503092 PMID:29790589 PMID:29871882 PMID:30877234 PMID:30898898 PMID:30943211 PMID:31087189 PMID:34628056 PMID:35495172 PMID:36175619 PMID:36480544 PMID:36515470 PMID:36813923 PMID:37273678 PMID:37937776 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Zfhx3
zinc finger homeobox 3
ISO
protein:increased expression:liver (human)
RGD
PMID:33368532
RGD:151361168
NCBI chr19:52,789,146...53,795,664
Ensembl chr19:36,630,254...36,881,771
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Ctr9
CTR9 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:165,137,215...165,167,303
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Ampd3
adenosine monophosphate deaminase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:174,319,526...174,364,605
Ensembl chr 1:164,885,320...164,929,887
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Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:176,358,909...176,416,178
Ensembl chr 2:174,062,976...174,118,355
G
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:27,146,155...27,170,012
Ensembl chr15:24,672,763...24,696,510
G
Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852
G
Asmtl
acetylserotonin O-methyltransferase-like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:16,315,335...16,318,083
Ensembl chr12:16,315,414...16,318,080
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:15016963 PMID:15753399 PMID:24033266
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
G
Ccdc28a
coiled-coil domain containing 28A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:12,857,668...12,872,944
Ensembl chr 1:12,857,666...12,873,003
G
Cdca2
cell division cycle associated 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:41,895,946...41,942,226
Ensembl chr15:41,895,901...41,941,611
G
Cdcp1
CUB domain containing protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:131,706,140...131,742,799
Ensembl chr 8:122,828,685...122,865,388
G
Celf4
CUGBP, Elav-like family member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:16,786,578...17,065,045
Ensembl chr18:16,786,867...17,064,786
G
Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:45,223,715...45,266,261
Ensembl chr11:31,737,813...31,780,061
G
Clspn
claspin
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:144,134,619...144,169,531
Ensembl chr 5:138,850,128...138,885,034
G
Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839
G
Coro2a
coronin 2A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:65,623,820...65,677,483
Ensembl chr 5:60,828,247...60,859,035
G
Dapk1
death associated protein kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991
G
Dchs1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532 PMID:32381727
NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:160,104,931...160,124,808
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
G
Ehbp1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:100,294,585...100,581,764
Ensembl chr14:96,093,327...96,345,332
G
Elovl5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:87,671,164...87,737,618
Ensembl chr 8:78,790,846...78,857,284
G
Ephb6
Eph receptor B6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:71,458,632...71,473,889
Ensembl chr 4:70,491,973...70,507,230
G
Eppk1
epiplakin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:109,697,607...109,718,468
Ensembl chr 7:107,817,693...107,831,159
G
Etv5
ETS variant transcription factor 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:78,608,618...78,666,221
Ensembl chr11:78,608,710...78,666,215
G
Eya4
EYA transcriptional coactivator and phosphatase 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:22,172,275...22,415,976
G
Fam168b
family with sequence similarity 168, member B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:37,005,569...37,038,631
Ensembl chr 9:37,006,689...37,033,723
G
Fras1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735
G
Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:108,296,124...108,698,961
G
Grin3a
glutamate ionotropic receptor NMDA type subunit 3A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:68,802,333...69,001,880
Ensembl chr 5:64,009,980...64,206,085
G
Gtdc1
glycosyltransferase-like domain containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:49,176,110...49,571,594
Ensembl chr 3:28,766,645...29,162,271
G
Has1
hyaluronan synthase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
G
Hivep1
HIVEP zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:22,790,855...22,920,359
Ensembl chr17:22,585,016...22,711,956
G
Hrh2
histamine receptor H 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:10,371,083...10,412,979
Ensembl chr17:10,368,298...10,407,631
G
Ift140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433
G
Igf2r
insulin-like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501
G
Igsf3
immunoglobulin superfamily, member 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:191,499,972...191,588,249
Ensembl chr 2:188,811,380...188,899,645
G
Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
G
Itgal
integrin subunit alpha L
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:191,348,424...191,386,228
Ensembl chr 1:181,918,183...181,955,732
G
Itgb4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868
NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461
G
Larp4b
La ribonucleoprotein 4B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:61,138,663...61,217,423
Ensembl chr17:61,138,709...61,187,960
G
Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640
G
Leng9
leukocyte receptor cluster member 9
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:70,039,099...70,041,559
Ensembl chr 1:70,035,791...70,044,509
G
Lingo3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:8,869,025...8,878,431
Ensembl chr 7:8,869,025...8,878,431
G
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:31,891,358...31,897,530
Ensembl chr15:27,920,259...27,927,505
G
Lrrfip1
LRR binding FLII interacting protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:99,039,590...99,167,805
Ensembl chr 9:91,643,197...91,720,250
G
Man2b1
mannosidase, alpha, class 2B, member 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:39,959,964...39,979,299
Ensembl chr19:23,055,097...23,074,389
G
Mfhas1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:63,248,833...63,336,441
Ensembl chr16:56,546,207...56,633,743
G
Mlxipl
MLX interacting protein-like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112
G
Mrrf
mitochondrial ribosome recycling factor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:39,884,530...39,941,317
Ensembl chr 3:19,487,182...19,543,908
G
Napsa
napsin A aspartic peptidase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:95,064,726...95,077,101
Ensembl chr 1:95,064,900...95,077,094
G
Nr3c2
nuclear receptor subfamily 3, group C, member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:47,619,853...47,964,089
Ensembl chr19:30,715,648...31,059,885
G
Numa1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:165,709,893...165,784,848
Ensembl chr 1:156,326,259...156,372,855
G
Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:31,783,725...31,791,353
Ensembl chr15:27,813,625...27,821,319
G
Pacsin2
protein kinase C and casein kinase substrate in neurons 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:116,385,571...116,478,609
Ensembl chr 7:114,505,152...114,598,546
G
Pars2
prolyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:121,433,993...121,439,158
Ensembl chr 5:121,434,096...121,439,154
G
Plagl1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228
G
Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939
G
Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:70,364,586...70,367,792
G
Ptgfr
prostaglandin F receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:243,390,820...243,426,647
Ensembl chr 2:240,733,375...240,765,650
G
Ptpn21
protein tyrosine phosphatase, non-receptor type 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:123,662,783...123,727,809
Ensembl chr 6:117,933,066...117,998,095
G
Rabep2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:190,433,501...190,457,241
Ensembl chr 1:181,010,305...181,026,648
G
Rad50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532
NCBI chr10:38,310,147...38,362,100
Ensembl chr10:37,808,726...37,861,396
G
Rbm12b
RNA binding motif protein 12B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:25,597,405...25,610,324
Ensembl chr 5:25,590,493...25,611,245
G
Rbm4
RNA binding motif protein 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:211,507,845...211,516,907
Ensembl chr 1:202,085,279...202,105,380
G
Recql5
RecQ like helicase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:101,126,544...101,165,739
Ensembl chr10:101,126,547...101,165,652
G
Rpl36
ribosomal protein L36
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:1,529,117...1,534,534
Ensembl chr 6:98,809,534...98,809,897 Ensembl chr 5:98,809,534...98,809,897
G
Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335
G
Scnn1g
sodium channel epithelial 1 subunit gamma
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:185,736,225...185,770,099
Ensembl chr 1:176,304,942...176,338,816
G
Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
G
Slc27a5
solute carrier family 27 member 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:82,688,742...82,699,335
Ensembl chr 1:73,616,564...73,627,172
G
Slc7a2
solute carrier family 7 member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:58,115,991...58,174,256
Ensembl chr16:51,417,493...51,470,784
G
Smc1b
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744
G
Specc1
sperm antigen with calponin homology and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:47,138,351...47,412,311
Ensembl chr10:46,638,809...46,912,802
G
Spen
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
G
Stil
STIL, centriolar assembly protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:133,757,598...133,810,493
Ensembl chr 5:128,520,953...128,573,730
G
Ston1
stonin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:11,596,726...11,646,098
Ensembl chr 6:5,843,185...5,892,449
G
Syt7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:216,456,148...216,518,718
Ensembl chr 1:207,031,592...207,089,026
G
Tango6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
G
Tdp1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:119,163,166...119,231,021
G
Tenm3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594
G
Tex15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:65,302,049...65,362,065
Ensembl chr16:58,598,989...58,658,467
G
Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
G
Tln2
talin 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:76,712,112...77,133,361
Ensembl chr 8:67,834,326...68,252,219
G
Tmcc3
transmembrane and coiled-coil domain family 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:30,781,452...31,058,888
Ensembl chr 7:28,893,967...29,171,926
G
Tmem121
transmembrane protein 121
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:132,262,182...132,265,797
Ensembl chr 6:132,262,176...132,265,914
G
Tnks1bp1
tankyrase 1 binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:70,135,335...70,160,071
Ensembl chr 3:70,137,837...70,160,038
G
Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532
G
Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517
G
Tsks
testis-specific serine kinase substrate
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:95,414,312...95,441,670
Ensembl chr 1:95,414,157...95,441,662
G
Tspear
thrombospondin-type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,772,219...10,943,914
G
Vac14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:55,499,962...55,601,290
Ensembl chr19:38,590,569...38,691,909
G
Vipr2
vasoactive intestinal peptide receptor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:143,139,672...143,213,609
Ensembl chr 6:137,001,511...137,070,597
G
Ylpm1
YLP motif containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:104,642,615...104,718,508
Ensembl chr 6:104,642,615...104,718,508
G
Zfp668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:191,905,112...191,915,436
Ensembl chr 1:182,474,633...182,492,878
G
Abcb1a
ATP binding cassette subfamily B member 1A
disease_progression
ISO
RGD
PMID:11888090
RGD:2315560
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
G
Amer1
APC membrane recruitment protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:64,310,492...64,326,377
Ensembl chr X:60,295,751...60,316,440
G
Apoc3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:22160518
RGD:7207220
NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
G
Asxl1
ASXL transcriptional regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538
G
Bcl2l1
Bcl2-like 1
disease_progression
ISO
RGD
PMID:15717629
RGD:1643482
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
G
Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
G
Bcorl1
BCL6 co-repressor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:132,394,703...132,462,414
Ensembl chr X:127,537,538...127,584,087
G
Bmp7
bone morphogenetic protein 7
IEP
mRNA:decreased expression:kidney
RGD
PMID:9808158
RGD:2289034
NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Wilms tumor
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
G
Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:186727 PMID:251866 PMID:278235 PMID:1772447 PMID:2200631 PMID:2661312 PMID:8075631 PMID:8524414 PMID:8589730 PMID:8665505 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8758903 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9012404 PMID:9042907 PMID:9042909 PMID:9145676 PMID:9150150 PMID:9150152 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9361038 PMID:9536098 PMID:9585608 PMID:9585613 PMID:9667259 PMID:9758598 PMID:9771877 PMID:9792861 PMID:9971877 PMID:10227398 PMID:10359546 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10464609 PMID:10464624 PMID:10486320 PMID:10550133 PMID:10570174 PMID:10595255 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10717622 PMID:10733239 PMID:10739756 PMID:10790213 PMID:10874312 PMID:10923033 PMID:10978364 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11044354 PMID:11062481 PMID:11149425 PMID:11158174 PMID:11170890 PMID:11179017 PMID:11207042 PMID:11251181 PMID:11307153 PMID:11359068 PMID:11389159 PMID:11400546 PMID:11466700 PMID:11504767 PMID:11556836 PMID:11597388 PMID:11710890 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11896095 PMID:11897832 PMID:11920621 PMID:11927503 PMID:11929857 PMID:11938448 PMID:12065746 PMID:12097290 PMID:12142080 PMID:12181777 PMID:12204006 PMID:12215251 PMID:12228710 PMID:12373604 PMID:12402332 PMID:12442265 PMID:12442275 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12556369 PMID:12569143 PMID:12655567 PMID:12698193 PMID:12750261 PMID:12774040 PMID:12845657 PMID:12920083 PMID:12955716 PMID:12960223 PMID:14555511 PMID:14559878 PMID:14576434 PMID:14647210 PMID:14647438 PMID:14670928 PMID:14732925 PMID:14973102 PMID:15024741 PMID:15026808 PMID:15070707 PMID:15117986 PMID:15131399 PMID:15145354 PMID:15146557 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15317758 PMID:15340362 PMID:15382066 PMID:15533909 PMID:15548363 PMID:15635067 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15744044 PMID:15766593 PMID:15800311 PMID:15876480 PMID:15887246 PMID:15889636 PMID:15944772 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16030099 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16170354 PMID:16199547 PMID:16205630 PMID:16234499 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16489001 PMID:16683254 PMID:16758124 PMID:16760289 PMID:16792514 PMID:16825431 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16978908 PMID:17011978 PMID:17063270 PMID:17100994 PMID:17148771 PMID:17262179 PMID:17301269 PMID:17341484 PMID:17453335 PMID:17513806 PMID:17574839 PMID:17576681 PMID:17591843 PMID:17636422 PMID:17688236 PMID:17700570 PMID:17724471 PMID:17767707 PMID:17850627 PMID:17851763 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18182994 PMID:18284688 PMID:18286383 PMID:18375895 PMID:18393245 PMID:18424508 PMID:18445692 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18563556 PMID:18607349 PMID:18627636 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18724707 PMID:18752448 PMID:18779604 PMID:18819001 PMID:18821011 PMID:18844490 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19052777 PMID:19188187 PMID:19200354 PMID:19241424 PMID:19353265 PMID:19471317 PMID:19491284 PMID:19499246 PMID:19530235 PMID:19563646 PMID:19574032 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19656415 PMID:19796187 PMID:19799798 PMID:19861517 PMID:19863560 PMID:19912264 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20135345 PMID:20167696 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20373018 PMID:20383589 PMID:20406929 PMID:20608899 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20807450 PMID:20815029 PMID:20858050 PMID:20859677 PMID:20887823 PMID:20960228 PMID:21120943 PMID:21138478 PMID:21203900 PMID:21205087 PMID:21232165 PMID:21233401 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21465317 PMID:21497495 PMID:21508395 PMID:21520273 PMID:21520333 PMID:21523855 PMID:21548014 PMID:21559243 PMID:21598239 PMID:21638052 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21720365 PMID:21735045 PMID:21741379 PMID:21913181 PMID:21918853 PMID:21952622 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22034289 PMID:22044689 PMID:22072316 PMID:22085629 PMID:22109874 PMID:22144684 PMID:22160602 PMID:22194698 PMID:22217648 PMID:22382806 PMID:22399190 PMID:22425665 PMID:22426013 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22535016 PMID:22578220 PMID:22632462 PMID:22666503 PMID:22678057 PMID:22682623 PMID:22684231 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22729890 PMID:22752604 PMID:22762150 PMID:22776961 PMID:22798144 PMID:22848303 PMID:22866093 PMID:22875147 PMID:22895246 PMID:22923021 PMID:22970155 PMID:22995991 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23318356 PMID:23320992 PMID:23341105 PMID:23415752 PMID:23451180 PMID:23469205 PMID:23479189 PMID:23569310 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23633455 PMID:23658460 PMID:23683081 PMID:23725378 PMID:23767878 PMID:23884708 PMID:23929434 PMID:23940062 PMID:23942203 PMID:23961350 PMID:23966579 PMID:23977390 PMID:24010542 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24259538 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24372583 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24578176 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24735155 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25007954 PMID:25066507 PMID:25072261 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25381700 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25479140 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25583207 PMID:25628955 PMID:25637381 PMID:25639900 PMID:25682074 PMID:25685387 PMID:25716084 PMID:25737278 PMID:25741868 PMID:25777348 PMID:25782689 PMID:25802882 PMID:25863477 PMID:25877891 PMID:25884701 PMID:25927356 PMID:25948282 PMID:25980754 PMID:26014432 PMID:26022348 PMID:26026974 PMID:26041759 PMID:26046366 PMID:26064523 PMID:26145171 PMID:26187060 PMID:26207792 PMID:26219728 PMID:26221963 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26300996 PMID:26306726 PMID:26350514 PMID:26360800 PMID:26425718 PMID:26436112 PMID:26439132 PMID:26440929 PMID:26467025 PMID:26541979 PMID:26543556 PMID:26556299 PMID:26566862 PMID:26576347 PMID:26580448 PMID:26586665 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26709275 PMID:26724258 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26787237 PMID:26834852 PMID:26845104 PMID:26848529 PMID:26852015 PMID:26867194 PMID:26933808 PMID:26968956 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27194814 PMID:27225637 PMID:27257965 PMID:27271530 PMID:27376475 PMID:27406733 PMID:27425403 PMID:27433846 PMID:27456091 PMID:27469594 PMID:27495310 PMID:27535533 PMID:27553368 PMID:27616075 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:27882536 PMID:27914478 PMID:27989354 PMID:28008555 PMID:28039656 PMID:28049253 PMID:28111427 PMID:28127413 PMID:28176296 PMID:28179634 PMID:28195393 PMID:28205045 PMID:28243543 PMID:28281021 PMID:28283652 PMID:28284943 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28346442 PMID:28349240 PMID:28423363 PMID:28476184 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28528518 PMID:28541631 PMID:28616458 PMID:28632866 PMID:28657667 PMID:28664506 PMID:28680148 PMID:28687971 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726806 PMID:28726808 PMID:28767289 PMID:28782087 PMID:28802053 PMID:28825054 PMID:28831036 PMID:28843361 PMID:28873162 PMID:28888541 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28944232 PMID:28947987 PMID:28973083 PMID:28985766 PMID:28993434 PMID:29020732 PMID:29053726 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29202330 PMID:29215753 PMID:29263802 PMID:29288066 PMID:29308099 PMID:29310832 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29383094 PMID:29394989 PMID:29395620 PMID:29433453 PMID:29435039 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29566657 PMID:29625052 PMID:29681614 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29790872 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29937315 PMID:29945567 PMID:29961768 PMID:29978187 PMID:29988080 PMID:30014164 PMID:30032850 PMID:30039884 PMID:30040829 PMID:30068706 PMID:30078507 PMID:30093976 PMID:30103829 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30130155 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30217213 PMID:30254663 PMID:30257646 PMID:30262796 PMID:30267214 PMID:30267352 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30400234 PMID:30415210 PMID:30425037 PMID:30447919 PMID:30472649 PMID:30489631 PMID:30548481 PMID:30603682 PMID:30606148 PMID:30609409 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30625039 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30715675 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30728895 PMID:30736435 PMID:30742731 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30875412 PMID:30877237 PMID:30883245 PMID:30972954 PMID:30982232 PMID:31019283 PMID:31060523 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31131967 PMID:31143373 PMID:31159747 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263500 PMID:31263571 PMID:31294896 PMID:31325073 PMID:31331294 PMID:31336956 PMID:31343793 PMID:31360904 PMID:31396961 PMID:31409081 PMID:31411802 PMID:31432501 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31706072 PMID:31721781 PMID:31742824 PMID:31782247 PMID:31794323 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31853058 PMID:31871109 PMID:31892343 PMID:31911673 PMID:31921681 PMID:31924417 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32022259 PMID:32029870 PMID:32039725 PMID:32064343 PMID:32068069 PMID:32073954 PMID:32091409 PMID:32098980 PMID:32101877 PMID:32132887 PMID:32164353 PMID:32190957 PMID:32255556 PMID:32256484 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32365798 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32467295 PMID:32468491 PMID:32486089 PMID:32489267 PMID:32521533 PMID:32531196 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32606146 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32782288 PMID:32806537 PMID:32817299 PMID:32824581 PMID:32832836 PMID:32846166 PMID:32850417 PMID:32853339 PMID:32854451 PMID:32856869 PMID:32862574 PMID:32872764 PMID:32875559 PMID:32885271 PMID:32918181 PMID:32923906 PMID:32947577 PMID:32980694 PMID:33008098 PMID:33010199 PMID:33054725 PMID:33067490 PMID:33077847 PMID:33087929 PMID:33113089 PMID:33151324 PMID:33287145 PMID:33293522 PMID:33309985 PMID:33372952 PMID:33403015 PMID:33461583 PMID:33461977 PMID:33471991 PMID:33478551 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33646313 PMID:33654310 PMID:33670479 PMID:33720054 PMID:33773534 PMID:33801055 PMID:33804961 PMID:33842585 PMID:33850850 PMID:33858029 PMID:33875706 PMID:33891299 PMID:33918338 PMID:33964450 PMID:33978741 PMID:34008015 PMID:34022715 PMID:34063308 PMID:34072659 PMID:34097676 PMID:34196900 PMID:34235180 PMID:34250417 PMID:34298626 PMID:34308104 PMID:34308366 PMID:34309133 PMID:34350294 PMID:34399810 PMID:34413315 PMID:34541275 PMID:34567246 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34680878 PMID:34687993 PMID:34717758 PMID:34741701 PMID:34906479 PMID:34970085 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35464868 PMID:35534704 PMID:35535697 PMID:35665744 PMID:35714671 PMID:35736817 PMID:35741847 PMID:35753294 PMID:35762214 PMID:35864222 PMID:35875314 PMID:35918668 PMID:35949895 PMID:35980532 PMID:36119527 PMID:36169650 PMID:36171877 PMID:36232564 PMID:36243179 PMID:36292577 PMID:36329109 PMID:36370215 PMID:36397405 PMID:36474027 PMID:36627197 PMID:36721989 PMID:36881271 PMID:36922933 PMID:36974006 PMID:36980738 PMID:36988593 PMID:36998040 PMID:37116400 PMID:37216690 PMID:37306523 PMID:37310942 PMID:37349538 PMID:37415649 PMID:37461096 PMID:37791389 PMID:37916805 PMID:38069422 PMID:38153744 PMID:38355628 PMID:38409497 PMID:38480854 PMID:38922859 PMID:39062721 PMID:39194688 PMID:39402389 PMID:15689453 More...
RGD:2289049
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
G
Ccdc160
coiled-coil domain containing 160
ISO
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532
NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431
G
Ccnd2
cyclin D2
ISO
RGD
PMID:15797629
RGD:2289153
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
G
Cd44
CD44 molecule
ISO
RGD
PMID:12131349
RGD:2289361
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
G
Cdk15
cyclin-dependent kinase 15
ISO
mRNA:increased expression:kidney
RGD
PMID:12057921
RGD:2316755
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
G
Cdk4
cyclin-dependent kinase 4
disease_progression
ISO
RGD
PMID:15797629
RGD:2289153
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
disease_progression
ISO
RGD
PMID:14760081
RGD:2293605
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
protein:increased expression:kidney
RGD
PMID:17369505
RGD:2289679
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
protein:increased expression:kidney
RGD
PMID:17369505
RGD:2289679
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Nephroblastoma
ClinVar
PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 PMID:19030985 PMID:20722467 PMID:21244692 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22520019 PMID:22691310 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23409019 PMID:23415889 PMID:24723567 PMID:26822237 More...
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Col6a3
collagen type VI alpha 3 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
G
Ctnnb1
catenin beta 1
ISO
protein:increased expression:kidney ClinVar Annotator: match by term: Nephroblastoma CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple
ClinVar CTD RGD
PMID:9065402 PMID:10435629 PMID:21237236 PMID:26822237 PMID:28825729 PMID:12890743 PMID:12239584 More...
RGD:2289833 , RGD:2289834
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:17634442
RGD:7257700
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr11:96,208,959...96,241,560
Ensembl chr11:82,704,729...82,737,242
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Dicer1
dicer 1 ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO
DNA:missense mutations, deletions:multiple (human)
RGD
PMID:22306653
RGD:11558020
NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616
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Drosha
drosha ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:61,864,970...61,976,688
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
protein:increased expression:kidney
RGD
PMID:16932912
RGD:2289932
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
RGD
PMID:12560388
RGD:2289966
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Nephroblastoma
ClinVar
PMID:26822237
NCBI chr 7:71,939,916...71,971,685
Ensembl chr 7:70,055,068...70,086,776
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Fzd7
frizzled class receptor 7
ISO
mRNA:increased expression:kidney
RGD
PMID:12057921
RGD:2316755
NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781
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Glipr1
GLI pathogenesis-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18030365
NCBI chr 7:49,373,579...49,399,190
Ensembl chr 7:47,487,345...47,498,429
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Gpc3
glypican 3
ISO
ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic
OMIM ClinVar CTD
PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 PMID:10814714 PMID:12085187 PMID:12713262 PMID:16158429 PMID:16199547 PMID:17576681 PMID:17603795 PMID:17850639 PMID:19215053 PMID:20301398 PMID:20683991 PMID:20950395 PMID:21362501 PMID:21434539 PMID:24033266 PMID:24169032 PMID:24214682 PMID:24357529 PMID:24459012 PMID:24728327 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27739211 PMID:28492532 PMID:29637653 PMID:31304847 More...
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
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Gpc4
glypican 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:136,565,536...136,676,142
Ensembl chr X:131,644,704...131,755,284
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H19
H19 imprinted maternally expressed transcript
susceptibility
ISO
associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11436121
RGD:2306181
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:kidney
RGD
PMID:17937859
RGD:2291911
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532
NCBI chr X:137,655,744...137,687,718
Ensembl chr X:132,736,096...132,768,154
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Igf1r
insulin-like growth factor 1 receptor
treatment
ISO
human cells in a mouse model mRNA:increased expression:kidney (human)
RGD
PMID:22529373 PMID:8390684 PMID:8390684
RGD:7242789 , RGD:12904709 , RGD:12904709
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8252039
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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Igf2r
insulin-like growth factor 2 receptor
ISO
RGD
PMID:9070652
RGD:7242956
NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501
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Jup
junction plakoglobin
disease_progression
ISO
RGD
PMID:17633921
RGD:2301745
NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057
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Kdm4d
lysine demethylase 4D
ISO
mRNA:increased expression:kidney (human)
RGD
PMID:24219278
RGD:9588525
NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
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Kit
KIT proto-oncogene receptor tyrosine kinase
disease_progression
ISO
RGD
PMID:19010635
RGD:12910726
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Lin28a
lin-28 homolog A
ISS
OMIM:194070
MouseDO
NCBI chr 5:151,510,891...151,527,884
Ensembl chr 5:146,227,119...146,244,122
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Map3k4
mitogen activated protein kinase kinase kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 1:50,977,870...51,067,117
Ensembl chr 1:48,431,830...48,519,358
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Max
MYC associated factor X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:95,636,858...95,662,137
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar
PMID:25741868 PMID:26822237
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Mir106a
microRNA 106a
ISO
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532
NCBI chr X:137,343,570...137,343,647
Ensembl chr X:132,422,584...132,422,661
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Mir19b2
microRNA 19b-2
ISO
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532
NCBI chr X:137,343,058...137,343,153
Ensembl chr X:132,422,072...132,422,167
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Mllt1
MLLT1, super elongation complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 9:1,731,077...1,775,985
Ensembl chr 9:1,731,080...1,775,970
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:19346876
RGD:6893546
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
severity
ISO
protein:increased expression:kidney (mouse) mRNA:decreased expression:tumor (human)
RGD
PMID:21983638 PMID:18260125
RGD:7207786 , RGD:7207840
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590
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Nono
non-POU domain containing, octamer-binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:70,594,116...70,611,976
Ensembl chr X:66,554,098...66,571,952
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Pak1
p21 (RAC1) activated kinase 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12165855
RGD:2299168
NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383
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Pax2
paired box 2
ISO IEP
mRNA:increased expression:kidney
RGD
PMID:12057921 PMID:7937920
RGD:2316755 , RGD:2316757
NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:11869017
RGD:2315007
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532
NCBI chr X:137,576,214...137,619,297
Ensembl chr X:132,656,672...132,699,127
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:kidney
RGD
PMID:16945639
RGD:2300206
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Rest
RE1-silencing transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551668
NCBI chr14:31,213,415...31,233,451
Ensembl chr14:30,862,553...30,894,354
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Serpinf1
serpin family F member 1
ISO
protein:decreased expression:kidney
RGD
PMID:16863836
RGD:2312354
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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Six1
SIX homeobox 1
severity
ISO
DNA:missense mutation:cds:p.Q177R (human) CTD Direct Evidence: marker/mechanism protein:increased expression:kidney, blastema (human)
CTD RGD
PMID:28825729 PMID:25670083 PMID:22180226
RGD:11561953 , RGD:11561963
NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975
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Six2
SIX homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:8,967,157...8,981,193
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Slc2a1
solute carrier family 2 member 1
severity
ISO
RGD
PMID:22483234
RGD:12879482
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Nephroblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:kidney
RGD
PMID:16799645
RGD:2291893
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased expression:kidney
RGD
PMID:17937859
RGD:2291911
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Terc
telomerase RNA component
disease_progression
ISO
RGD
PMID:16172460
RGD:2291966
NCBI chr 2:112,815,654...112,816,041
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:16172460
RGD:2291966
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Nephroblastoma
ClinVar
PMID:26822237
NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:11466614
RGD:2290439
NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:148,304,490...148,312,558
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Top2a
DNA topoisomerase II alpha
ISO
mRNA:increased expression:kidney
RGD
PMID:12438255 PMID:16556665
RGD:2315132 , RGD:2315131
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
DNA:loss of heterozygosity:kidney
RGD
PMID:10760569
RGD:2291834
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Trim28
tripartite motif-containing 28
ISO
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
PMID:25741868 PMID:28492532 PMID:32699065
NCBI chr 1:82,724,842...82,731,566
Ensembl chr 1:73,652,709...73,659,380
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Trip13
thyroid hormone receptor interactor 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553959
NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:29,357,130...29,402,074
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Vegfc
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:17257131
RGD:2315481
NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848
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Vhl
von Hippel-Lindau tumor suppressor
IEP ISO
protein:decreased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11880179 PMID:11880179
RGD:625549
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Wif1
Wnt inhibitory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:16575872
RGD:2291870
NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360
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Wt1
WT1 transcription factor
ISO
DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human) ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1654525 PMID:1655284 PMID:1658787 PMID:2154335 PMID:2154702 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15591903 PMID:16199547 PMID:16439601 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18559874 PMID:18591546 PMID:18618575 PMID:18688870 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22796116 PMID:22815844 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:26822237 PMID:26882358 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28081536 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:28825729 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33226606 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:34727091 PMID:35211794 PMID:35535697 PMID:35655039 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36349777 PMID:36964972 PMID:36980135 PMID:38054408 PMID:38219185 PMID:8381965 PMID:15118671 PMID:1316081 More...
RGD:2315545 , RGD:1331525 , RGD:2315544
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171
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Tgfb2
transforming growth factor, beta 2
ameliorates
ISO
human cells in a mouse model
RGD
PMID:21366804
RGD:155630611
NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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Alpg
alkaline phosphatase, germ cell
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:87,753,648...87,757,836
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Alpi
alkaline phosphatase, intestinal
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:87,773,411...87,776,877
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Alpp
alkaline phosphatase, placental
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:87,765,860...87,768,606
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Armc9
armadillo repeat containing 9
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:86,802,868...86,928,860
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Atg16l1
autophagy related 16-like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:88,422,038...88,457,529
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B3gnt7
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
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C9h2orf72
similar to human chromosome 2 open reading frame 72
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
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Cab39
calcium binding protein 39
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:93,911,099...93,972,542
Ensembl chr 9:86,463,095...86,524,544
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Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Cops7b
COP9 signalosome subunit 7B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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Ctr9
CTR9 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Predisposition to Wilms tumor
ClinVar
PMID:9536098 PMID:17576681 PMID:25099282 PMID:28492532
NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:165,137,215...165,167,303
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Dgkd
diacylglycerol kinase, delta
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:88,516,715...88,607,345
G
Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:25741868
NCBI chr15:82,231,922...82,258,299
Ensembl chr15:75,823,436...75,850,642
G
Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO ISS
ClinVar Annotator: match by term: DIS3L2-related condition | ClinVar Annotator: match by term: Perlman syndrome OMIM:267000 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:36451132 More...
NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616
G
Dnajb3
DnaJ heat shock protein family (Hsp40) member B3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,243,345...96,244,358
Ensembl chr 9:88,795,488...88,796,560
G
Ecel1
endothelin converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:87,816,718...87,826,675
G
Efhd1
EF-hand domain family, member D1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,386,155...95,432,800
Ensembl chr 9:87,938,284...87,984,917
G
Eif4e2
eukaryotic translation initiation factor 4E family member 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,333,439...95,362,366
Ensembl chr 9:87,878,085...87,914,482
G
Gigyf2
GRB10 interacting GYF protein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,449,143...95,574,927
Ensembl chr 9:88,001,301...88,125,715
G
Gpr55
G protein-coupled receptor 55
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,037,748...94,081,426
Ensembl chr 9:86,590,885...86,640,613
G
Hjurp
Holliday junction recognition protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:86,742,102...86,755,108
G
Itm2c
integral membrane protein 2C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
G
Kcnj13
potassium inwardly-rectifying channel, subfamily J, member 13
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
G
Mroh2a
maestro heat-like repeat family member 2A
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
G
Ncl
nucleolin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,447,559...94,456,083
Ensembl chr 9:86,998,019...87,008,136
G
Neu2
neuraminidase 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:95,666,338...95,715,209
Ensembl chr 9:88,249,135...88,267,355
G
Ngef
neuronal guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
G
Nmur1
neuromedin U receptor 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
G
Nppc
natriuretic peptide C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:87,320,051...87,324,251
G
Pde6d
phosphodiesterase 6D
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,640,932...94,685,918
Ensembl chr 9:87,192,983...87,237,969
G
Prss56
serine protease 56
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
G
Psmd1
proteasome 26S subunit, non-ATPase 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,157,971...94,233,218
Ensembl chr 9:86,709,947...86,785,211
G
Ptma
prothymosin alpha
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:87,176,230...87,180,333
G
Sag
S-antigen visual arrestin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
G
Snorc
secondary ossification center associated regulator of chondrocyte maturation
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891
G
Snord20
small nucleolar RNA, C/D box 20
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
G
Snord82
small nucleolar RNA, C/D box 82
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
G
Sp100
SP100 nuclear antigen
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:93,758,975...93,825,068
Ensembl chr 9:86,311,032...86,377,034
G
Sp110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:86,200,503...86,222,670
G
Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
G
Spata3
spermatogenesis associated 3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
G
Spp2
secreted phosphoprotein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:89,007,175...89,026,688
G
Tex44
testis expressed 44
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
G
Trpm8
transient receptor potential cation channel, subfamily M, member 8
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,315,567...96,437,959
Ensembl chr 9:88,903,880...88,988,552
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a2
UDP glucuronosyltransferase 1 family, polypeptide A2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,239,019...96,256,264
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a3
UDP glycosyltransferase 1 family, polypeptide A3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,228,134...96,256,264
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a5
UDP glucuronosyltransferase family 1 member A5
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,210,053...96,256,264
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a6
UDP glucuronosyltransferase family 1 member A6
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a9
UDP glucuronosyltransferase family 1 member A9
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:88,713,184...88,808,465
G
Usp40
ubiquitin specific peptidase 40
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:96,055,741...96,126,766
Ensembl chr 9:88,607,930...88,678,914
G
Plag1
PLAG1 zinc finger
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:10029085
RGD:1599086
NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647
G
Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,239,550...128,275,833
Ensembl chr 6:122,474,756...122,510,854
G
Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:127,685,185...127,774,947
Ensembl chr 6:121,923,023...121,972,405
G
Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
G
Ddx24
DEAD-box helicase 24
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
G
Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma CTD Direct Evidence: marker/mechanism DNA:mutations:cds
ClinVar CTD RGD
PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 PMID:16095561 PMID:16199547 PMID:17576681 PMID:17920623 PMID:17923214 PMID:18453628 PMID:18570301 PMID:19556464 PMID:21036787 PMID:21205968 PMID:21266384 PMID:21346072 PMID:21501861 PMID:21882293 PMID:22157934 PMID:22180160 PMID:22187960 PMID:22546613 PMID:22717647 PMID:23027947 PMID:23068969 PMID:23132766 PMID:23418872 PMID:23547758 PMID:23620094 PMID:23622242 PMID:23728841 PMID:23868280 PMID:24033266 PMID:24065110 PMID:24136150 PMID:24151152 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24628552 PMID:24675358 PMID:24676357 PMID:24708902 PMID:24728327 PMID:24823459 PMID:24839956 PMID:24909177 PMID:24909261 PMID:25022261 PMID:25118636 PMID:25176334 PMID:25190313 PMID:25231023 PMID:25348012 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25526195 PMID:25640679 PMID:25670082 PMID:25670083 PMID:25741868 PMID:25803323 PMID:25836323 PMID:25998712 PMID:26033159 PMID:26033501 PMID:26241669 PMID:26289771 PMID:26408257 PMID:26428316 PMID:26461232 PMID:26467025 PMID:26475046 PMID:26517685 PMID:26526666 PMID:26545620 PMID:26555935 PMID:26556299 PMID:26566882 PMID:26577641 PMID:26580448 PMID:26592504 PMID:26666178 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:26983701 PMID:27036314 PMID:27050224 PMID:27126690 PMID:27459524 PMID:27494611 PMID:27664536 PMID:27697588 PMID:27784193 PMID:27819237 PMID:27830405 PMID:27896549 PMID:27930734 PMID:28007021 PMID:28012864 PMID:28097783 PMID:28177962 PMID:28202063 PMID:28222777 PMID:28323992 PMID:28459098 PMID:28492532 PMID:28502826 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28688118 PMID:28748527 PMID:28766837 PMID:28825729 PMID:28834809 PMID:28862265 PMID:28873162 PMID:28960912 PMID:29037807 PMID:29187512 PMID:29315962 PMID:29351919 PMID:29395683 PMID:29399970 PMID:29459759 PMID:29469200 PMID:29474644 PMID:29538609 PMID:29625052 PMID:29633305 PMID:29641532 PMID:29660837 PMID:29706542 PMID:29708584 PMID:29726952 PMID:29753010 PMID:29762508 PMID:29881993 PMID:29883781 PMID:29938629 PMID:29943907 PMID:29945567 PMID:30014022 PMID:30072170 PMID:30093976 PMID:30097050 PMID:30178239 PMID:30260442 PMID:30266945 PMID:30339877 PMID:30446821 PMID:30585947 PMID:30597651 PMID:30649606 PMID:30665929 PMID:30672147 PMID:30989777 PMID:31067372 PMID:31278746 PMID:31285663 PMID:31296931 PMID:31300551 PMID:31342592 PMID:31417090 PMID:31820118 PMID:31838154 PMID:31883967 PMID:31900434 PMID:31911633 PMID:32291395 PMID:32371905 PMID:32692439 PMID:32714280 PMID:32729194 PMID:32973888 PMID:33158809 PMID:33208384 PMID:33372952 PMID:33460435 PMID:33484847 PMID:33606809 PMID:33630087 PMID:33718253 PMID:33729574 PMID:33767345 PMID:33782093 PMID:34291157 PMID:34313605 PMID:34761719 PMID:34913555 PMID:35194848 PMID:35728810 PMID:35739269 PMID:37248399 PMID:37333613 PMID:38084291 PMID:38136308 PMID:38874686 PMID:39001563 PMID:25500911 PMID:19556464 More...
RGD:149735200 , RGD:11552609
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
G
Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
G
Fgf9
fibroblast growth factor 9
ISS
MouseDO
NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309
G
Gsc
goosecoid homeobox
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:129,152,836...129,154,875
Ensembl chr 6:123,388,072...123,390,111
G
Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,355,312...128,361,783
Ensembl chr 6:122,590,472...122,779,294
G
Ifi27l2a
interferon, alpha-inducible protein 27 like 2A
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,363,658...128,365,144
Ensembl chr 6:122,598,872...122,600,360
G
Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
G
Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,427,884...128,518,776
Ensembl chr 6:122,663,344...122,753,384
G
Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
G
Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339
G
Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,520,894...128,529,332
Ensembl chr 6:122,756,108...122,764,544
G
Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,668,030...128,677,476
Ensembl chr 6:122,903,250...122,912,670
G
Serpina12
serpin family A member 12
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,717,334...128,732,049
Ensembl chr 6:122,952,552...122,967,271
G
Serpina1f
serpin family A member 1F
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,585,697...128,591,902
Ensembl chr 6:122,820,907...122,827,112
G
Serpina3n
serpin family A member 3N
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433
G
Serpina4
serpin family A member 4
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,764,738...128,773,858
Ensembl chr 6:122,999,900...123,009,082
G
Serpina5
serpin family A member 5
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,774,006...128,793,187
Ensembl chr 6:123,023,306...123,028,407
G
Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,544,828...128,555,064
Ensembl chr 6:122,780,043...122,790,349
G
Serpina9
serpin family A member 9
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:128,683,650...128,700,784
Ensembl chr 6:122,918,880...122,936,000
G
Ubr7
ubiquitin protein ligase E3 component n-recognin 7
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
G
Unc79
unc-79 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:127,841,671...128,092,380
Ensembl chr 6:122,080,308...122,327,591
G
Yy1
YY1 transcription factor
ISS
OMIM:601200
MouseDO
NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747
G
Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Gpc3
glypican 3
disease_progression
ISO
mRNA, protein:increased expression:kidney (human)
RGD
PMID:25366870
RGD:243065136
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
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H19
H19 imprinted maternally expressed transcript
ISO
associated with loss of imprinting;DNA:hypermethylation:promoter, kidney (human)
RGD
PMID:11431321
RGD:151356740
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Pax2
paired box 2
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321
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Sall1
spalt-like transcription factor 1
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705
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Six2
SIX homeobox 2
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:8,967,157...8,981,193
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr10:65,464,948...65,510,846
Ensembl chr10:64,966,967...65,012,738
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Tek
TEK receptor tyrosine kinase
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:109,607,077...109,733,804
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Vegfa
vascular endothelial growth factor A
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Wt1
WT1 transcription factor
ISO
human tumor in mouse model
RGD
PMID:18467665
RGD:155631277
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
protein:increased expression:kidney (human)
RGD
PMID:20212451
RGD:7207430
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Pgbd5
piggyBac transposable element derived 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28504702
NCBI chr19:69,234,171...69,299,315
Ensembl chr19:52,336,751...52,402,397
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
DNA:nonsense mutation, deletions, insertions:multiple (human) protein:decreased expression:brain, kidney, soft tissue: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370
RGD:1599055 , RGD:155804291
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
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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
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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
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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 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Aqp4
aquaporin 4
ISO
associated with Myasthenia Gravis
RGD
PMID:20728226
RGD:5148025
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Birc2
baculoviral IAP repeat-containing 2
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
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Birc5
baculoviral IAP repeat-containing 5
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Bsg
basigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
RGD
PMID:24260492
RGD:9589098
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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Naip6
NLR family, apoptosis inhibitory protein 6
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:31,507,424...31,570,542
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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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
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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
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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
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD ClinVar
PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 More...
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10505699 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19048299 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36349777 PMID:36964972 PMID:36980135 PMID:15118671 More...
RGD:1331525
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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H19
H19 imprinted maternally expressed transcript
ISO
ClinVar Annotator: match by term: Wilms tumor 2
ClinVar
PMID:18836444
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Mrpl23
mitochondrial ribosomal protein L23
ISO
ClinVar Annotator: match by term: Wilms tumor 2
ClinVar
PMID:18836444
NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
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Pou6f2
POU class 6 homeobox 2
susceptibility
ISO
ClinVar Annotator: match by term: POU6F2-related condition | ClinVar Annotator: match by term: Wilms tumor 5
OMIM ClinVar
PMID:11284034 PMID:15459955 PMID:25741868 PMID:28492532
NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
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Rest
RE1-silencing transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: Wilms tumor 6
ClinVar OMIM
PMID:25741868 PMID:26551668 PMID:28492532
NCBI chr14:31,213,415...31,233,451
Ensembl chr14:30,862,553...30,894,354
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