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Bcl2 |
BCL2 apoptosis regulator |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16450387 |
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NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7543699 |
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NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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Snrpd3 |
small nuclear ribonucleoprotein D3 polypeptide |
severity |
ISO |
mRNA, protein:increased expression:multiple (human) |
RGD |
PMID:20165692 |
RGD:10766477 |
NCBI chrNW_004936619:728,759...744,367
Ensembl chrNW_004936619:728,114...745,551
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16767912 PMID:17203757 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10686957 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11816139 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:19366727 |
RGD:2314525 |
NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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G |
Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:17160433 |
RGD:13208596 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19944662 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Foxo1 |
forkhead box O1 |
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ISO |
ClinVar Annotator: match by term: FOXO1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936565:5,210,014...5,299,213
Ensembl chrNW_004936565:5,210,014...5,302,436
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G |
Pax3 |
paired box 3 |
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ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
OMIM ClinVar |
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More...
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NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815
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G |
Pax7 |
paired box 7 |
|
ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 |
OMIM ClinVar |
PMID:25741868 PMID:31092906 PMID:32214227 |
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NCBI chrNW_004936474:5,045,284...5,131,859
Ensembl chrNW_004936474:5,045,284...5,131,859
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G |
Tp73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
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NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
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G |
Wwtr1 |
WW domain containing transcription regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chrNW_004936758:101,629...225,496
Ensembl chrNW_004936758:101,620...225,525
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G |
Aspscr1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
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ISO |
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OMIM |
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NCBI chrNW_004936594:5,478,947...5,516,320
Ensembl chrNW_004936594:5,478,926...5,516,646
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
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OMIM |
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NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892
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G |
LOC101963041 |
histone H3.3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chrNW_004936526:2,835,002...2,842,328
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583
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G |
Ccn1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936550:2,983,172...3,032,222
Ensembl chrNW_004936550:2,980,442...3,032,229
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
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NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568
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Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:24623741 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 PMID:30050099 PMID:30201732 PMID:31308404 More...
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NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423
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Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 More...
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NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936602:3,135,790...3,140,622
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G |
LOC101963257 |
histone H3.3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chrNW_004936594:959,493...961,703
Ensembl chrNW_004936594:958,049...961,708
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
ClinVar |
PMID:25741868 PMID:27476652 |
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NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22228622 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28502725 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30231930 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32595695 PMID:32778138 PMID:33077954 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: CLOVES syndrome |
ClinVar |
PMID:25741868 PMID:34040190 |
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NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936542:2,450,830...2,478,740
Ensembl chrNW_004936542:2,452,359...2,476,126
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Desmoid tumor |
ClinVar |
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:23757202 PMID:25741868 PMID:27081525 PMID:28492532 More...
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoid tumor |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
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NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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G |
Mtap |
methylthioadenosine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY |
OMIM ClinVar |
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936652:3,431,588...3,468,770
Ensembl chrNW_004936652:3,431,171...3,472,071
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004936474:11,148,857...11,197,312
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G |
Bcor |
BCL6 corepressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15475955 |
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NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684
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G |
Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793134 |
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NCBI chrNW_004936553:7,157,526...7,943,703
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G |
Myod1 |
myogenic differentiation 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793135 |
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NCBI chrNW_004936528:1,407,187...1,409,683
Ensembl chrNW_004936528:1,407,661...1,409,573
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 |
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NCBI chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chrNW_004936551:5,638,383...5,740,523
Ensembl chrNW_004936551:5,634,751...5,740,567
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G |
Slc22a18 |
solute carrier family 22 member 18 |
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ISO |
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OMIM |
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NCBI chrNW_004936794:1,042,103...1,061,347
Ensembl chrNW_004936794:1,042,224...1,061,345
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G |
Dicer1 |
dicer 1, ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 |
OMIM ClinVar |
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26467025 PMID:26475046 PMID:26545620 PMID:26555935 PMID:26577641 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28524158 PMID:28873162 PMID:29399970 PMID:29883781 PMID:30014022 PMID:30097050 PMID:30178239 PMID:30446821 PMID:31838154 PMID:32714280 PMID:34291157 PMID:34313605 More...
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NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368
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G |
Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chrNW_004936499:6,421,930...6,640,429
Ensembl chrNW_004936499:6,362,295...6,639,047
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12973667 PMID:14508707 |
RGD:1599125 |
NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200
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G |
Brf1 |
BRF1 general transcription factor IIIB subunit |
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ISO |
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RGD |
PMID:18456653 |
RGD:9586716 |
NCBI chrNW_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040
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Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
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NCBI chrNW_004936625:91,229...468,242
Ensembl chrNW_004936625:90,299...466,395
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G |
Mfhas1 |
multifunctional ROCO family signaling regulator 1 |
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ISO |
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RGD |
PMID:9973190 |
RGD:1599928 |
NCBI chrNW_004936573:1,567,798...1,662,442
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G |
Mmp21 |
matrix metallopeptidase 21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16984259 |
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NCBI chrNW_004936486:13,781,441...13,789,018
Ensembl chrNW_004936486:13,781,616...13,788,955
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
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G |
Hey1 |
hes related family bHLH transcription factor with YRPW motif 1 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chrNW_004936871:666,961...670,910
Ensembl chrNW_004936871:666,938...670,916
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chrNW_004936470:16,051,291...16,102,563
Ensembl chrNW_004936470:16,051,015...16,102,585
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G |
Notch4 |
notch receptor 4 |
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ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chrNW_004936727:1,386,842...1,409,823
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative |
ClinVar OMIM |
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12901799 PMID:14523376 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20301519 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22703879 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29367705 PMID:29419868 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:30267214 PMID:30374176 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31113927 PMID:31159747 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31942411 PMID:32068069 PMID:32504335 PMID:32658311 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36988593 More...
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
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NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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G |
Chml |
CHM like Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,833,921...8,844,484
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G |
Chrm3 |
cholinergic receptor muscarinic 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936484:13,953,141...14,373,174
Ensembl chrNW_004936484:13,954,887...13,956,659
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G |
Exo1 |
exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,570,488...8,627,004
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G |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous |
OMIM ClinVar |
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16237213 PMID:16309500 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16881969 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18414213 PMID:18514489 PMID:19183174 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20231875 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23203078 PMID:23211287 PMID:23612258 PMID:23707781 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27097334 PMID:27454940 PMID:27541980 PMID:28266706 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28518168 PMID:28592321 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29174943 PMID:29423582 PMID:29456767 PMID:29530542 PMID:29625052 PMID:29641532 PMID:29797630 PMID:29893455 PMID:29909963 PMID:29978187 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31524643 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:31844177 PMID:32008151 PMID:32012241 PMID:32154112 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 PMID:33397043 PMID:33402335 PMID:33439686 PMID:33442023 PMID:33606809 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34654685 PMID:34994643 PMID:35163394 PMID:35216667 PMID:35251648 PMID:35441217 PMID:35626031 PMID:35806449 PMID:35874919 PMID:35993574 PMID:36315513 PMID:36451132 PMID:36773955 PMID:36777509 PMID:37053010 PMID:38002934 PMID:38279137 More...
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NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367
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G |
Fmn2 |
formin 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:9,832,790...10,169,488
Ensembl chrNW_004936526:9,833,128...10,169,267
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G |
Grem2 |
gremlin 2, DAN family BMP antagonist |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:9,820,276...9,821,907
Ensembl chrNW_004936526:9,720,335...9,823,370
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G |
Kmo |
kynurenine 3-monooxygenase |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,877,085...8,928,280
Ensembl chrNW_004936526:8,877,434...8,919,548
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G |
Map1lc3c |
microtubule associated protein 1 light chain 3 gamma |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,492,840...8,497,028
Ensembl chrNW_004936526:8,492,840...8,496,744
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G |
Opn3 |
opsin 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,833,495...8,876,631
Ensembl chrNW_004936526:8,833,455...8,876,729
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G |
Pld5 |
phospholipase D family member 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,055,190...8,447,854
Ensembl chrNW_004936526:8,055,339...8,441,030
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G |
Rgs7 |
regulator of G protein signaling 7 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:9,087,820...9,552,482
Ensembl chrNW_004936526:9,088,350...9,551,899
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G |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441
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G |
Wdr64 |
WD repeat domain 64 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936526:8,689,313...8,821,950
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G |
Zp4 |
zona pellucida glycoprotein 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
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NCBI chrNW_004936484:15,370,443...15,376,564
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G |
B3galt2 |
beta-1,3-galactosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors |
ClinVar |
PMID:25637381 |
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NCBI chrNW_004936638:1,424,641...1,434,266
Ensembl chrNW_004936638:1,426,044...1,433,660
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G |
Cdc73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors |
OMIM ClinVar |
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
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NCBI chrNW_004936638:1,365,457...1,482,497
Ensembl chrNW_004936638:1,365,648...1,483,277
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar OMIM |
PMID:18931684 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936491:13,288,986...13,516,878
Ensembl chrNW_004936491:13,288,717...13,516,984
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877
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G |
Flt4 |
fms related receptor tyrosine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY |
OMIM ClinVar |
PMID:11807987 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936739:240,572...281,925
Ensembl chrNW_004936739:236,510...281,729
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G |
Kdr |
kinase insert domain receptor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition |
OMIM ClinVar |
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
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G |
Myh9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262
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G |
Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
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RGD |
PMID:17554865 |
RGD:12879502 |
NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713
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G |
Vegfa |
vascular endothelial growth factor A |
disease_progression |
ISO |
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RGD |
PMID:26957058 |
RGD:155663370 |
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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G |
Notch3 |
notch receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile |
ClinVar |
PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31017643 PMID:31064749 PMID:31474318 PMID:34494111 PMID:39580648 More...
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NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 |
ClinVar |
PMID:23731542 |
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NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 |
OMIM ClinVar |
PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31474318 PMID:39580648 More...
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NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 |
OMIM ClinVar |
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:12146805 PMID:12482954 PMID:12754354 PMID:12810003 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16580020 PMID:17122431 PMID:17390743 PMID:17879445 PMID:17879447 PMID:18384453 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19174371 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20301673 PMID:20935329 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22153900 PMID:22218279 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:23584202 PMID:23731542 PMID:23844775 PMID:24033266 PMID:24086431 PMID:24425116 PMID:24886907 PMID:25260786 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25929831 PMID:25980907 PMID:26261665 PMID:26305465 PMID:26467025 PMID:26646783 PMID:26806700 PMID:27350778 PMID:27844030 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28710804 PMID:28815929 PMID:28991717 PMID:30311053 PMID:30956055 PMID:31418856 PMID:31433517 PMID:31589614 PMID:31998484 PMID:32172663 PMID:32277177 PMID:32555735 PMID:32581362 PMID:32732295 PMID:32765252 PMID:32912545 PMID:34008892 PMID:34297860 PMID:34335700 PMID:34851492 PMID:35754959 PMID:35775048 PMID:35822697 PMID:35906014 PMID:36261288 PMID:36401683 PMID:37476306 PMID:37873835 More...
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NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429
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G |
Ar |
androgen receptor |
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ISO |
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RGD |
PMID:15704521 |
RGD:1578690 |
NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932
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G |
Bak1 |
BCL2 antagonist/killer 1 |
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ISO |
associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium |
RGD |
PMID:16962107 |
RGD:1643479 |
NCBI chrNW_004936476:25,347,608...25,354,772
Ensembl chrNW_004936476:25,347,545...25,355,789
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:23789224 |
RGD:10054112 |
NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
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G |
Bcl2 |
BCL2 apoptosis regulator |
treatment |
ISO |
protein:increased expression:myometrium |
RGD |
PMID:16962107 PMID:23789224 |
RGD:10054112 RGD:1643479 |
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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G |
Bcl2l1 |
BCL2 like 1 |
|
ISO |
associated with Carcinoma, Renal Cell;protein:increased expression:myometrium |
RGD |
PMID:16962107 |
RGD:1643479 |
NCBI chrNW_004936485:18,654,046...18,707,324
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G |
Cav1 |
caveolin 1 |
|
ISO |
protein:increased expression:uterus |
RGD |
PMID:17952758 |
RGD:2296031 |
NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
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G |
Ccng1 |
cyclin G1 |
|
ISO |
mRNA, protein:increased expression:uterus, myometrium |
RGD |
PMID:12634633 |
RGD:2316023 |
NCBI chrNW_004936515:614,287...621,213
Ensembl chrNW_004936515:614,290...619,963
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G |
Comt |
catechol-O-methyltransferase |
susceptibility |
ISO |
protein:increased expression:myometrium associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M |
RGD |
PMID:16443508 PMID:16730007 |
RGD:2289717 RGD:2289780 |
NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747
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G |
Csnk2b |
casein kinase 2 beta |
|
ISO |
|
RGD |
PMID:25327614 |
RGD:11565842 |
NCBI chrNW_004936727:1,857,596...1,862,551
Ensembl chrNW_004936727:1,857,596...1,862,002
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31468104 |
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NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18701604 PMID:31468104 |
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NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
|
RGD |
PMID:22504913 |
RGD:9588321 |
NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939
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G |
Faslg |
Fas ligand |
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ISO |
protein:increased expression:myometrium |
RGD |
PMID:18000229 |
RGD:2292498 |
NCBI chrNW_004936481:14,789,547...14,795,780
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G |
Fgf1 |
fibroblast growth factor 1 |
disease_progression |
ISO |
protein:increased expression:uterus |
RGD |
PMID:16139411 |
RGD:2290287 |
NCBI chrNW_004936504:11,590,687...11,684,410
Ensembl chrNW_004936504:11,590,637...11,685,194
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G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
|
RGD |
PMID:18566572 |
RGD:2301090 |
NCBI chrNW_004936471:11,636,733...11,692,782
Ensembl chrNW_004936471:11,635,876...11,693,821
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G |
Fzd2 |
frizzled class receptor 2 |
|
ISO |
mRNA, protein:increased expression:myometrium |
RGD |
PMID:12909487 |
RGD:2298700 |
NCBI chrNW_004936541:965,135...967,018
Ensembl chrNW_004936541:965,131...966,798
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G |
Gper1 |
G protein-coupled estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31468104 |
|
NCBI chrNW_004936754:1,288,891...1,293,555
Ensembl chrNW_004936754:1,288,912...1,293,427
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G |
Hmga2 |
high mobility group AT-hook 2 |
|
ISO |
uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 |
RGD |
PMID:8954805 |
RGD:1601568 |
NCBI chrNW_004936545:3,944,419...3,958,289
Ensembl chrNW_004936545:3,944,419...4,064,193
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G |
Hnrnpm |
heterogeneous nuclear ribonucleoprotein M |
|
ISO |
mRNA:increased expression:uterine myometrium (human) |
RGD |
PMID:18566572 |
RGD:2301090 |
NCBI chrNW_004936588:5,241,276...5,283,952
Ensembl chrNW_004936588:5,222,509...5,239,890 Ensembl chrNW_004936588:5,222,509...5,239,890
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G |
Igfbp6 |
insulin like growth factor binding protein 6 |
|
ISO |
uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray |
RGD |
PMID:15705628 |
RGD:2301708 |
NCBI chrNW_004936512:10,415,004...10,419,698
Ensembl chrNW_004936512:10,414,807...10,419,741
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G |
Inhba |
inhibin subunit beta A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228119 |
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NCBI chrNW_004936478:16,878,725...16,884,065
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G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
DNA:translocation:intron:IVS3 (human) |
RGD |
PMID:15313893 |
RGD:9590338 |
NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904
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G |
Kif5c |
kinesin family member 5C |
|
ISO |
mRNA:increased expression:myometrium (human) |
RGD |
PMID:20396563 |
RGD:12859089 |
NCBI chrNW_004936469:28,282,921...28,431,638
Ensembl chrNW_004936469:28,280,095...28,431,695
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G |
Lnpep |
leucyl and cystinyl aminopeptidase |
disease_progression |
ISO |
associated with Uterine Neoplasms;protein:increased expression:serum |
RGD |
PMID:7446622 |
RGD:2314924 |
NCBI chrNW_004936523:6,443,571...6,533,122
Ensembl chrNW_004936523:6,445,939...6,532,566
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G |
Mki67 |
marker of proliferation Ki-67 |
|
ISO |
|
RGD |
PMID:22302692 |
RGD:6483544 |
NCBI chrNW_004936486:15,561,327...15,587,109
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:17943549 |
RGD:2290362 |
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
treatment |
ISO |
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RGD |
PMID:22302692 |
RGD:6483544 |
NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
protein:increased expression:smooth muscle cell |
RGD |
PMID:10671823 |
RGD:2292088 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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G |
Parp1 |
poly(ADP-ribose) polymerase 1 |
treatment |
ISO |
|
RGD |
PMID:21896544 |
RGD:10413890 |
NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642
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G |
Pcna |
proliferating cell nuclear antigen |
treatment |
ISO |
protein:increased expression:myometrium |
RGD |
PMID:18000229 PMID:21896544 |
RGD:10413890 RGD:2292498 |
NCBI chrNW_004936485:13,766,221...13,771,215
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G |
Pcp4 |
Purkinje cell protein 4 |
|
ISO |
mRNA,protein:increased expression:uterine myometrium: |
RGD |
PMID:14561813 |
RGD:9850247 |
NCBI chrNW_004936500:3,416,840...3,468,893
Ensembl chrNW_004936500:3,416,797...3,469,053
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:16294022 |
RGD:2292153 |
NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:16294022 |
RGD:2292153 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pgr |
progesterone receptor |
no_association |
ISO |
|
RGD |
PMID:15807882 |
RGD:1601278 |
NCBI chrNW_004936551:6,498,553...6,573,212
Ensembl chrNW_004936551:6,498,553...6,573,222
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
protein:increased phosphorylation:myometrium protein:decreased expression:myometrium |
RGD |
PMID:17097286 PMID:18000229 |
RGD:2292498 RGD:2292508 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Ptger3 |
prostaglandin E receptor 3 |
|
ISO |
mRNA:increased expression:uterine myometrium (human) |
RGD |
PMID:17407572 |
RGD:10043352 |
NCBI chrNW_004936591:1,174,364...1,250,233
Ensembl chrNW_004936591:1,174,069...1,249,410
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G |
Ptk2 |
protein tyrosine kinase 2 |
|
ISO |
|
RGD |
PMID:12517589 |
RGD:2292569 |
NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543
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G |
Sfrp1 |
secreted frizzled related protein 1 |
|
ISO |
Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15972578 |
RGD:2298808 |
NCBI chrNW_004936785:1,276,478...1,320,397
Ensembl chrNW_004936785:1,276,420...1,321,017
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G |
Smad3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228119 |
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NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793
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G |
Tgfbr1 |
transforming growth factor beta receptor 1 |
|
ISO |
|
RGD |
PMID:17505012 |
RGD:2302021 |
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15937110 PMID:21145542 |
RGD:11568684 |
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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G |
Wnt5b |
Wnt family member 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs |
CTD RGD |
PMID:15972578 |
RGD:2298808 |
NCBI chrNW_004936606:1,741,500...1,854,857
Ensembl chrNW_004936606:1,838,043...1,856,095
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G |
Wnt7a |
Wnt family member 7A |
|
ISO |
Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria |
RGD |
PMID:11232041 |
RGD:2298847 |
NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:polymorphism: :p.R399Q |
RGD |
PMID:15760950 |
RGD:2302578 |
NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777
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Fh |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas |
ClinVar |
PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16237213 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:18313410 PMID:20301679 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21520333 PMID:21560188 PMID:22069215 PMID:22528940 PMID:22595425 PMID:22703879 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24441663 PMID:24684806 PMID:24728327 PMID:25741868 PMID:25985877 PMID:26457356 PMID:26467025 PMID:26945337 PMID:27541980 PMID:28300276 PMID:28371217 PMID:28492532 PMID:28518168 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29641532 PMID:29893455 PMID:29909963 PMID:30741757 PMID:30877234 PMID:31162287 PMID:31444830 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33439686 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34654685 PMID:34994643 PMID:35441217 PMID:35626031 PMID:35993574 PMID:36315513 PMID:36773955 PMID:36777509 More...
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NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367
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Cd44 |
CD44 molecule (IN blood group) |
|
ISO |
|
RGD |
PMID:15762960 |
RGD:2296043 |
NCBI chrNW_004936533:2,949,026...3,033,166
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G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:17988723 |
RGD:2315651 |
NCBI chrNW_004936512:10,706,043...10,712,797
Ensembl chrNW_004936512:10,705,350...10,713,517
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G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Leiomyosarcoma |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18381420 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26467025 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:36222830 PMID:37055167 PMID:37149759 More...
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NCBI chrNW_004936657:2,805,947...2,848,180
Ensembl chrNW_004936657:2,805,959...2,848,180
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9774950 |
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NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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G |
Dmd |
dystrophin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793134 |
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NCBI chrNW_004936553:7,157,526...7,943,703
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G |
Flt1 |
fms related receptor tyrosine kinase 1 |
severity |
ISO |
Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) |
RGD |
PMID:15823121 |
RGD:2289964 |
NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
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G |
Hmga1 |
high mobility group AT-hook 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18645019 |
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NCBI chrNW_004936476:24,795,854...24,803,138
Ensembl chrNW_004936476:24,795,877...24,801,567
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G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
Uterine; protein:increased expression:tumor:10/14 tumors (71%) |
RGD |
PMID:17367465 |
RGD:2292170 |
NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
DNA:missense mutations:cds: |
RGD |
PMID:26891131 |
RGD:11353203 |
NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18645019 |
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NCBI chrNW_004936481:3,821,564...3,828,086
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
mRNA:increased expression:myometrium |
RGD |
PMID:10652422 |
RGD:2298564 |
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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G |
Usp18 |
ubiquitin specific peptidase 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26555296 |
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NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770
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G |
Xrn2 |
5'-3' exoribonuclease 2 |
|
ISO |
mRNA:increased expression:uterus (human) |
RGD |
PMID:24485798 |
RGD:11041788 |
NCBI chrNW_004936620:4,069,956...4,145,212
Ensembl chrNW_004936620:4,069,934...4,145,745
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G |
Plag1 |
PLAG1 zinc finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16308870 |
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NCBI chrNW_004936496:2,809,878...2,855,515
Ensembl chrNW_004936496:2,814,583...2,855,527
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25231345 |
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NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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G |
Hmga2 |
high mobility group AT-hook 2 |
|
ISO |
DNA:multiple chromosomal rearrangements |
RGD |
PMID:7606786 |
RGD:1601567 |
NCBI chrNW_004936545:3,944,419...3,958,289
Ensembl chrNW_004936545:3,944,419...4,064,193
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G |
Men1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Lipoma, somatic |
ClinVar |
PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 PMID:9683585 PMID:10576763 PMID:10594843 PMID:10664520 PMID:10856877 PMID:12112656 PMID:14641000 PMID:15635078 PMID:17065424 PMID:17623761 PMID:17853334 PMID:17879353 PMID:17953629 PMID:18045958 PMID:20833329 PMID:23093699 PMID:24033266 PMID:24599222 PMID:24915123 PMID:25309785 PMID:25741868 PMID:26467025 PMID:27572829 PMID:28492532 PMID:28870973 PMID:28968916 PMID:29036195 PMID:30324798 PMID:30795813 More...
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NCBI chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9286463 |
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NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Mfhas1 |
multifunctional ROCO family signaling regulator 1 |
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ISO |
ClinVar Annotator: match by term: MFHAS1-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936573:1,567,798...1,662,442
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
treatment |
ISO |
human cell line in mouse model |
RGD |
PMID:23166610 |
RGD:7242013 |
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
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G |
Recql4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Malignant fibrous histiocytoma |
ClinVar |
PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778 |
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NCBI chrNW_004936470:7,755,253...7,761,705
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G |
Brd7 |
bromodomain containing 7 |
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ISO |
ClinVar Annotator: match by term: malignant granular cell tumor |
ClinVar |
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NCBI chrNW_004936475:3,394,423...3,432,998
Ensembl chrNW_004936475:3,393,373...3,433,103
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal |
OMIM ClinVar |
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
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NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
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G |
Zdbf2 |
zinc finger DBF-type containing 2 |
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ISO |
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome |
ClinVar |
PMID:23636874 PMID:27139419 |
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NCBI chrNW_004936631:2,649,792...2,686,430
Ensembl chrNW_004936631:2,648,381...2,686,434
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G |
Cdc73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Ossifying fibroma of the jaw |
ClinVar |
PMID:27658992 |
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NCBI chrNW_004936638:1,365,457...1,482,497
Ensembl chrNW_004936638:1,365,648...1,483,277
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
ClinVar |
PMID:18626305 PMID:24292273 |
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NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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ISO |
ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
OMIM ClinVar |
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29743074 PMID:30285736 PMID:31711431 PMID:32581362 More...
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NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10908253 |
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NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
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NCBI chrNW_004936493:3,624,288...3,671,567
Ensembl chrNW_004936493:3,028,608...3,671,874
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G |
Angpt2 |
angiopoietin 2 |
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ISO |
protein:increased expression:blood vessel (rat) |
RGD |
PMID:17849463 |
RGD:2314204 |
NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
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G |
Brca1 |
BRCA1 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 PMID:22923021 PMID:23397983 PMID:23635950 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26306726 PMID:26467025 PMID:26852130 PMID:28492532 PMID:28740454 PMID:30940100 PMID:32772980 More...
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NCBI chrNW_004936490:17,735,444...17,801,456
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G |
Brca2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 PMID:11897832 PMID:11920621 PMID:12442265 PMID:12569143 PMID:12774040 PMID:15024741 PMID:15645491 PMID:15800615 PMID:16234499 PMID:16683254 PMID:16912212 PMID:17574839 PMID:17688236 PMID:18465347 PMID:18489799 PMID:19016756 PMID:19563646 PMID:19620486 PMID:20104584 PMID:21318380 PMID:21324516 PMID:21465317 PMID:21520333 PMID:21643751 PMID:21702907 PMID:21719596 PMID:21952622 PMID:22006311 PMID:22752604 PMID:22762150 PMID:22798144 PMID:23199084 PMID:23479189 PMID:23531862 PMID:24156927 PMID:24249303 PMID:24259538 PMID:24333842 PMID:24504028 PMID:24528374 PMID:24578176 PMID:24728189 PMID:24814045 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25863477 PMID:26187060 PMID:26221963 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26306726 PMID:26360800 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26787237 PMID:27062684 PMID:27153395 PMID:27157322 PMID:27836010 PMID:28176296 PMID:28324225 PMID:28492532 PMID:28724667 PMID:28831036 PMID:28993434 PMID:29084914 PMID:29321669 PMID:29325860 PMID:29339979 PMID:29348823 PMID:29368341 PMID:29446198 PMID:29489754 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29758562 PMID:29907814 PMID:30040829 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30548481 PMID:30612635 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:31214711 PMID:31263571 PMID:31360904 PMID:31447099 PMID:31589614 PMID:31825140 PMID:32164353 PMID:32255556 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32719484 PMID:32778078 PMID:32782288 PMID:32824581 PMID:32853339 PMID:32885271 PMID:32923906 PMID:33087929 PMID:33372952 PMID:33471991 PMID:33599307 PMID:33670479 PMID:33801055 PMID:34022715 PMID:34072659 PMID:34399810 PMID:34657373 PMID:34680387 PMID:34687993 PMID:35205366 PMID:36721989 PMID:36988593 PMID:38417439 More...
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NCBI chrNW_004936472:26,945,659...27,017,693
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
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RGD |
PMID:7053379 |
RGD:10755426 |
NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:25952305 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 More...
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NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288
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G |
Cnr1 |
cannabinoid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19509271 |
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NCBI chrNW_004936510:3,779,930...3,806,615
Ensembl chrNW_004936510:3,781,210...3,802,693
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G |
Dicer1 |
dicer 1, ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 PMID:28492532 PMID:28624956 PMID:28862265 PMID:30266945 PMID:33372952 More...
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NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
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G |
Igf2 |
insulin like growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7981680 |
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NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083
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G |
Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 PMID:15849733 PMID:15872200 PMID:16216036 PMID:16736289 PMID:16996571 PMID:18270343 PMID:19731080 PMID:21642682 PMID:22034109 PMID:23990280 PMID:24344984 PMID:24362816 PMID:24549055 PMID:24851142 PMID:25117503 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27601186 PMID:28492532 PMID:28874130 PMID:30521064 PMID:31054147 PMID:31615790 PMID:33484353 More...
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NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
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G |
Msh6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 PMID:29750335 PMID:29755653 PMID:30128536 PMID:31100584 PMID:31965077 PMID:33467402 More...
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NCBI chrNW_004936508:4,708,661...4,728,671
Ensembl chrNW_004936508:4,708,661...4,728,787
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 PMID:9783703 PMID:10090487 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10862084 PMID:10980545 PMID:11258625 PMID:11857752 PMID:12112660 PMID:12566521 PMID:12746402 PMID:12807981 PMID:16937374 PMID:16944272 PMID:16961930 PMID:17426081 PMID:17576681 PMID:17668375 PMID:18041031 PMID:18484666 PMID:18546366 PMID:19076627 PMID:19221814 PMID:19292874 PMID:19738042 PMID:20015894 PMID:20301288 PMID:21354044 PMID:22155606 PMID:22190595 PMID:23222849 PMID:23404336 PMID:23460398 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24789688 PMID:24932921 PMID:25324867 PMID:25325900 PMID:25741868 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26740943 PMID:26908603 PMID:26969325 PMID:26973730 PMID:27069254 PMID:27074763 PMID:27171602 PMID:27322474 PMID:27482814 PMID:27838393 PMID:28422438 PMID:28492532 PMID:29522274 PMID:29673180 PMID:29872168 PMID:29914388 PMID:30014477 PMID:31533797 PMID:31717729 PMID:31776437 PMID:32107864 PMID:32860008 PMID:33372952 PMID:34080803 PMID:34427956 PMID:34694046 More...
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NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 PMID:16507833 PMID:18602922 PMID:18824584 PMID:19092773 PMID:20205264 PMID:20581245 PMID:21356188 PMID:21618646 PMID:23012243 PMID:25512458 PMID:25525159 PMID:25691505 PMID:25741868 PMID:26110232 PMID:26895986 PMID:27435373 PMID:28492532 PMID:28805995 PMID:31433215 PMID:32773772 PMID:32876971 PMID:34048176 PMID:34897210 More...
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NCBI chrNW_004936750:439,396...468,747
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:33372952 |
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NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 PMID:11332402 PMID:11918710 PMID:16773562 PMID:17286265 PMID:20301661 PMID:21194675 PMID:21956414 PMID:22266152 PMID:22381246 PMID:23335809 PMID:23470840 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24345843 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29594054 PMID:30614812 PMID:30659124 PMID:33083010 PMID:33372952 PMID:36988593 More...
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NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Ptma |
prothymosin alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16669873 |
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NCBI chrNW_004936525:5,253,723...5,258,300
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25488574 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:26722403 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:32971818 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
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NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
|
ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 PMID:28492532 PMID:33372952 More...
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NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092
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G |
Slc22a18 |
solute carrier family 22 member 18 |
|
ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic |
ClinVar |
PMID:9520460 |
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NCBI chrNW_004936794:1,042,103...1,061,347
Ensembl chrNW_004936794:1,042,224...1,061,345
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G |
Timm10 |
translocase of inner mitochondrial membrane 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16669873 |
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NCBI chrNW_004936581:4,972,241...4,975,092
Ensembl chrNW_004936581:4,972,178...4,975,189
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma |
ClinVar |
PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1978757 PMID:2046748 PMID:2750177 PMID:7706467 PMID:7732013 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8364550 PMID:8423216 PMID:8633021 PMID:9067756 PMID:9242456 PMID:9285560 PMID:9399838 PMID:9446663 PMID:9470817 PMID:9536098 PMID:9546439 PMID:9681828 PMID:9704930 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519384 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11420676 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920959 PMID:12610779 PMID:12672316 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16199547 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17540308 PMID:17576681 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18628487 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20407015 PMID:20455025 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21445056 PMID:21464421 PMID:21483000 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21665242 PMID:21761402 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22319594 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23538418 PMID:23625637 PMID:23639312 PMID:23894400 PMID:24033266 PMID:24307375 PMID:24382691 PMID:24501221 PMID:24549055 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24728327 PMID:24764719 PMID:24810334 PMID:25326637 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26086041 PMID:26206375 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26628864 PMID:26681312 PMID:26681682 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28861920 PMID:28873162 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30224644 PMID:30262806 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30816478 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32295079 PMID:32427313 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:34540492 PMID:36988593 More...
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16116481 |
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NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chrNW_004936470:16,051,291...16,102,563
Ensembl chrNW_004936470:16,051,015...16,102,585
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G |
Nab2 |
NGFI-A binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23313952 PMID:23313954 |
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NCBI chrNW_004936646:1,291,251...1,297,463
Ensembl chrNW_004936646:1,291,446...1,299,118
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G |
Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23313952 PMID:23313954 |
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NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157
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G |
Tnrc6b |
trinucleotide repeat containing adaptor 6B |
severity |
ISO |
DNA:SNP: :rs12484776(human) |
RGD |
PMID:23892540 |
RGD:14394614 |
NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
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G |
Ada |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:26918693 |
RGD:152995264 |
NCBI chrNW_004936530:2,217,713...2,224,070
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G |
Bet1l |
Bet1 golgi vesicular membrane trafficking protein like |
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ISO |
DNA:SNP:rs2280543(human) |
RGD |
PMID:23892540 |
RGD:14394614 |
NCBI chrNW_004936888:42,646...56,589
Ensembl chrNW_004936888:52,019...56,776
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
mRNA:increased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
DNA:hypomethylation:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
mRNA:increased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377
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G |
Dapk1 |
death associated protein kinase 1 |
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ISO |
mRNA:decreased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058
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G |
Dlx3 |
distal-less homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131
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G |
Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367
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G |
Hmga2 |
high mobility group AT-hook 2 |
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ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
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NCBI chrNW_004936545:3,944,419...3,958,289
Ensembl chrNW_004936545:3,944,419...4,064,193
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G |
Irs1 |
insulin receptor substrate 1 |
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ISO |
mRNA:increased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
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G |
Ntm |
neurotrimin |
treatment |
ISO |
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RGD |
PMID:32033718 |
RGD:596948395 |
NCBI chrNW_004936572:165,985...1,110,936
Ensembl chrNW_004936572:165,987...1,110,587
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G |
Nuak1 |
NUAK family kinase 1 |
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ISO |
DNA:hypermethylation:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chrNW_004936492:8,710,039...8,774,870
Ensembl chrNW_004936492:8,710,039...8,775,112
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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G |
Tnrc6b |
trinucleotide repeat containing adaptor 6B |
severity |
ISO |
DNA:SNP: :rs12484776(human) |
RGD |
PMID:23892540 |
RGD:14394614 |
NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
OMIM:150699 |
MouseDO |
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NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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G |
Bcl2l1 |
BCL2 like 1 |
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ISO |
associated with Carcinoma, Renal Cell;protein:increased expression:uterus |
RGD |
PMID:16962107 |
RGD:1643479 |
NCBI chrNW_004936485:18,654,046...18,707,324
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
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RGD |
PMID:20147986 |
RGD:155641259 |
NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936602:3,147,773...3,155,739
Ensembl chrNW_004936602:3,148,567...3,155,736
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G |
Ccnd1 |
cyclin D1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF |
OMIM ClinVar |
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
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Ensembl chrNW_004936599:973,838...983,316
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G |
Epas1 |
endothelial PAS domain protein 1 |
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ISO |
protein:increased expression:kidney: |
RGD |
PMID:22299048 |
RGD:11041600 |
NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856
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G |
Irak2 |
interleukin 1 receptor associated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936602:3,073,910...3,129,344
Ensembl chrNW_004936602:3,073,889...3,129,408
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 PMID:18419787 PMID:19454582 PMID:19802898 PMID:21348866 PMID:21909610 PMID:21934479 PMID:23083876 PMID:24033266 PMID:24466223 PMID:25326637 PMID:25741868 PMID:25972245 PMID:26467025 PMID:27171833 PMID:27573198 PMID:28324028 PMID:28374168 PMID:28492532 PMID:29386252 PMID:31666924 More...
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NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423
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G |
Slc18a1 |
solute carrier family 18 member A1 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:16189177 |
RGD:5131200 |
NCBI chrNW_004936555:4,249,821...4,271,379
Ensembl chrNW_004936555:4,249,821...4,271,379
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
OMIM ClinVar |
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 PMID:7553625 PMID:7563486 PMID:7604013 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069305 PMID:8069849 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641695 PMID:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9067265 PMID:9143408 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9452106 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9681858 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10533030 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10581162 PMID:10587522 PMID:10612827 PMID:10627136 PMID:10697963 PMID:10761708 PMID:10766184 PMID:10823831 PMID:10862095 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11148816 PMID:11160785 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12056827 PMID:12081237 PMID:12097293 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12603429 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:12944410 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14636579 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15918937 PMID:15921386 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16585181 PMID:16595991 PMID:16669786 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16868829 PMID:16884327 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102080 PMID:17102082 PMID:17102083 PMID:17102087 PMID:17102088 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17407064 PMID:17526729 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17700531 PMID:17898043 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18067796 PMID:18195360 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18685280 PMID:18836774 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19096585 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19258401 PMID:19270817 PMID:19280651 PMID:19293973 PMID:19304954 PMID:19309509 PMID:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19755989 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20300531 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20844582 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:20978319 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21386872 PMID:21389259 PMID:21449869 PMID:21454469 PMID:21461997 PMID:21463266 PMID:21519372 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21791076 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22145147 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22265326 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22566194 PMID:22649785 PMID:22683710 PMID:22703879 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23538339 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23968328 PMID:23990664 PMID:23990666 PMID:24002598 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24112165 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24147197 PMID:24166983 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 PMID:24466223 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24779271 PMID:24969085 PMID:24977658 PMID:24986515 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25282218 PMID:25310726 PMID:25371412 PMID:25390905 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25683602 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25773797 PMID:25825477 PMID:25867206 PMID:25885250 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26228213 PMID:26268347 PMID:26308528 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26484545 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26920352 PMID:26934580 PMID:26957611 PMID:26973240 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27517496 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27730413 PMID:27785399 PMID:27811160 PMID:28043156 PMID:28052007 PMID:28202063 PMID:28235946 PMID:28349240 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28650583 PMID:28724667 PMID:28775317 PMID:28781534 PMID:28849724 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29437867 PMID:29510814 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 PMID:29758562 PMID:29789510 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29946849 PMID:29949369 PMID:29978187 PMID:30006056 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30278534 PMID:30338240 PMID:30522901 PMID:30877234 PMID:30890701 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31278746 PMID:31337753 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31528828 PMID:31538058 PMID:31620170 PMID:31666924 PMID:31779674 PMID:31980715 PMID:32106822 PMID:32238909 PMID:32671223 PMID:32869749 PMID:33004005 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33370224 PMID:33397040 PMID:33618821 PMID:33720516 PMID:33745191 PMID:33840814 PMID:33938902 PMID:34036514 PMID:34109129 PMID:34122352 PMID:34416425 PMID:34439168 PMID:34439371 PMID:34566400 PMID:34571962 PMID:34628056 PMID:34654685 PMID:34926252 PMID:34994648 PMID:35008334 PMID:35032816 PMID:35448166 PMID:35466127 PMID:35475554 PMID:35505422 PMID:35524216 PMID:35668420 PMID:35734542 PMID:36384467 PMID:36480544 PMID:36625343 PMID:36715412 PMID:36936415 PMID:37529773 PMID:37979962 PMID:38020566 PMID:38595826 PMID:38969834 More...
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NCBI chrNW_004936602:3,135,790...3,140,622
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