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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:neuroectodermal tumor
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Accession:DOID:171 term browser browse the term
Definition:Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.
Synonyms:exact_synonym: neuroectodermal tumors;   primitive neuroectodermal neoplasm
 primary_id: MESH:D017599
 xref: EFO:0005235
For additional species annotation, visit the Alliance of Genome Resources.



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neuroectodermal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARTN artemin IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 1:43,933,801...43,937,240
Ensembl chr 1:43,933,320...43,937,240
JBrowse link
G BDNF brain derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CAV1 caveolin 1 IEP RGD PMID:20881564 RGD:8661782 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression IEP RGD PMID:15354013 RGD:11567268 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GDNF glial cell derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IEP protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G VEGFA vascular endothelial growth factor A IDA RGD PMID:14660915 RGD:8547959 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR542 microRNA 542 disease_progression IEP RGD PMID:26286747 RGD:13782052 NCBI chr  X:134,541,341...134,541,437
Ensembl chr  X:134,541,341...134,541,437
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 severity IMP
IEP
RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
astroblastoma, MN1-altered term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Carcinoid Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin IEP protein:decreased expression:serum: RGD PMID:975003 RGD:11036087 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ENO2 enolase 2 IEP RGD PMID:17345775 RGD:2293739 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
G MEN1 menin 1 IAGP DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) RGD PMID:16465412 RGD:2317351 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:12584572 RGD:2317635 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR10A microRNA 10a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
JBrowse link
G MIR127 microRNA 127 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:100,882,979...100,883,075
Ensembl chr14:100,882,979...100,883,075
JBrowse link
G MIR136 microRNA 136 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:100,884,702...100,884,783
Ensembl chr14:100,884,702...100,884,783
JBrowse link
G MIR146A microRNA 146a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G MIR154 microRNA 154 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:101,059,755...101,059,838
Ensembl chr14:101,059,755...101,059,838
JBrowse link
G MIR155 microRNA 155 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR193A microRNA 193a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
JBrowse link
G MIR222 microRNA 222 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124
JBrowse link
G MIR224 microRNA 224 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:151,958,578...151,958,658
Ensembl chr  X:151,958,578...151,958,658
JBrowse link
G MIR302D microRNA 302d EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
JBrowse link
G MIR30A microRNA 30a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
JBrowse link
G MIR34B microRNA 34b EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:111,512,938...111,513,021
Ensembl chr11:111,512,938...111,513,021
JBrowse link
G MIR34C microRNA 34c EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:111,513,439...111,513,515
Ensembl chr11:111,513,439...111,513,515
JBrowse link
G MIR369 microRNA 369 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:101,065,598...101,065,667
Ensembl chr14:101,065,598...101,065,667
JBrowse link
G MIR370 microRNA 370 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:100,911,139...100,911,213
Ensembl chr14:100,911,139...100,911,213
JBrowse link
G MIR409 microRNA 409 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:101,065,300...101,065,378
Ensembl chr14:101,065,300...101,065,378
JBrowse link
G MIR410 microRNA 410 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:101,065,912...101,065,991
Ensembl chr14:101,065,912...101,065,991
JBrowse link
G MIR432 microRNA 432 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:100,884,483...100,884,576
Ensembl chr14:100,884,483...100,884,576
JBrowse link
G MIR487B microRNA 487b EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:101,046,455...101,046,538
Ensembl chr14:101,046,455...101,046,538
JBrowse link
G MIR494 microRNA 494 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
JBrowse link
G MIR511 microRNA 511 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:17,845,107...17,845,193
Ensembl chr10:17,845,107...17,845,193
JBrowse link
G MIR938 microRNA 938 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:29,602,264...29,602,346
Ensembl chr10:29,602,264...29,602,346
JBrowse link
G REG1A regenerating family member 1 alpha IAGP associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) RGD PMID:10348814 RGD:9850135 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,948,511...76,958,638
Ensembl chr13:76,948,511...76,958,638
JBrowse link
G AL139082.1 novel transcript, antisense to NEK3 & NEK5 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,128,895...52,132,723
Ensembl chr13:52,128,891...52,132,723
JBrowse link
G AL353660.1 novel transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,288,070...74,408,803
Ensembl chr13:74,288,070...74,408,810
JBrowse link
G AL355390.1 novel transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,412,957...74,419,115
Ensembl chr13:74,412,957...74,419,115
JBrowse link
G AL445209.1 novel transcript, antisense to POU4F1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,596,122...78,599,619
Ensembl chr13:78,596,129...78,599,619
JBrowse link
G AL445238.1 keratin-associated protein 21-1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,832,361...63,833,053
Ensembl chr13:63,832,361...63,833,531
JBrowse link
G AL445989.1 keratin-associated protein 21-1-like IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,746,741...63,748,176
Ensembl chr13:63,746,741...63,751,080
JBrowse link
G AL450447.1 putative UPF0607 protein ENSP00000383144 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,661,376...77,662,626
Ensembl chr13:77,661,376...77,662,626
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,628,507...49,633,872
Ensembl chr13:49,628,507...49,633,872
JBrowse link
G ATP7B ATPase copper transporting beta IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
JBrowse link
G BORA BORA aurora kinase A activator IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,727,923...72,756,196
Ensembl chr13:72,727,749...72,756,198
JBrowse link
G C13orf42 chromosome 13 open reading frame 42 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,082,119...51,172,388
Ensembl chr13:51,082,119...51,200,252
JBrowse link
G CAB39L calcium binding protein 39 like IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,308,650...49,444,064
Ensembl chr13:49,308,650...49,444,064
JBrowse link
G CCDC70 coiled-coil domain containing 70 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,861,969...51,866,232
Ensembl chr13:51,861,969...51,866,232
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,247,925...49,293,485
Ensembl chr13:49,247,925...49,293,485
JBrowse link
G CKAP2 cytoskeleton associated protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,455,478...52,476,627
Ensembl chr13:52,455,429...52,476,628
JBrowse link
G CKAP2-DT CKAP2 divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,454,775...52,455,346
Ensembl chr13:52,454,774...52,455,392
JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
JBrowse link
G CNMD chondromodulin IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,703,264...52,739,820
Ensembl chr13:52,703,264...52,739,820
JBrowse link
G COMMD6 COMM domain containing 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,525,214...75,549,439
Ensembl chr13:75,525,214...75,549,439
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
JBrowse link
G DACH1 dachshund family transcription factor 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,437,966...71,867,204
Ensembl chr13:71,437,966...71,867,204
JBrowse link
G DHRS12 dehydrogenase/reductase 12 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,754,854...51,804,163
Ensembl chr13:51,767,993...51,804,163
JBrowse link
G DIAPH3 diaphanous related formin 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928
JBrowse link
G DIAPH3-AS1 DIAPH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,734...60,044,357
JBrowse link
G DIAPH3-AS2 DIAPH3 antisense RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,144,698...60,153,505
Ensembl chr13:60,144,648...60,153,678
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,752,169...72,781,900
Ensembl chr13:72,752,169...72,782,096
JBrowse link
G DLEU1 deleted in lymphocytic leukemia 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,082,169...50,528,643
Ensembl chr13:50,082,169...50,906,856
JBrowse link
G DLEU1-AS1 DLEU1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,520,933...50,527,449
Ensembl chr13:50,519,364...50,843,939
JBrowse link
G DLEU2 deleted in lymphocytic leukemia 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,982,549...50,125,541
Ensembl chr13:49,956,670...50,125,720
JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,711,026...50,843,939
Ensembl chr13:50,519,364...50,843,939
JBrowse link
G DLEU7-AS1 DLEU7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,807,855...50,849,905
Ensembl chr13:50,082,169...50,906,856
JBrowse link
G EBPL EBP like IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,660,674...49,691,487
Ensembl chr13:49,660,674...49,691,486
JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,844,145
JBrowse link
G FAM124A family with sequence similarity 124 member A IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,222,398...51,284,239
Ensembl chr13:51,222,334...51,284,239
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195
JBrowse link
G FNDC3A fibronectin type III domain containing 3A IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,975,291...49,209,779
Ensembl chr13:48,975,912...49,209,779
JBrowse link
G HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,617,525...52,643,773
Ensembl chr13:52,642,431...52,643,773
JBrowse link
G INTS6 integrator complex subunit 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,334,405...51,453,036
Ensembl chr13:51,354,077...51,454,264
JBrowse link
G INTS6-AS1 INTS6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,345...51,454,716
Ensembl chr13:51,452,364...51,554,678
JBrowse link
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G KCNRG potassium channel regulator IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,015,444...50,020,922
Ensembl chr13:50,015,254...50,020,922
JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,880,175...76,886,405
Ensembl chr13:76,880,175...76,886,405
JBrowse link
G KLF12 KLF transcription factor 12 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,686,089...74,306,045
Ensembl chr13:73,686,089...74,134,404
JBrowse link
G KLF5 KLF transcription factor 5 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
JBrowse link
G KLHL1 kelch like family member 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,700,597...70,108,452
Ensembl chr13:69,700,594...70,108,493
JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682
JBrowse link
G LINC00331 long intergenic non-protein coding RNA 331 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,787,319...78,840,050
Ensembl chr13:78,786,272...78,840,051
JBrowse link
G LINC00333 long intergenic non-protein coding RNA 333 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,140,602...84,606,768
Ensembl chr13:84,562,364...84,563,236
JBrowse link
G LINC00345 long intergenic non-protein coding RNA 345 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,482,482...52,600,607
Ensembl chr13:52,482,804...52,489,216
JBrowse link
G LINC00347 long intergenic non-protein coding RNA 347 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,552,843...74,557,120
Ensembl chr13:74,552,503...74,565,445
JBrowse link
G LINC00348 long intergenic non-protein coding RNA 348 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,015,141...71,168,417
Ensembl chr13:71,015,042...71,168,417
JBrowse link
G LINC00351 long intergenic non-protein coding RNA 351 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,363,603...85,544,662
Ensembl chr13:85,363,601...85,544,570
JBrowse link
G LINC00355 long intergenic non-protein coding RNA 355 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,986,371...64,076,011
Ensembl chr13:63,851,197...64,076,044
JBrowse link
G LINC00358 long intergenic non-protein coding RNA 358 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,003,525...62,029,548
Ensembl chr13:61,997,136...62,029,572
JBrowse link
G LINC00364 long intergenic non-protein coding RNA 364 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,372,387...67,379,994
Ensembl chr13:67,326,177...67,379,994
JBrowse link
G LINC00374 long intergenic non-protein coding RNA 374 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,211,697...58,233,117
Ensembl chr13:58,211,697...58,233,117
JBrowse link
G LINC00375 long intergenic non-protein coding RNA 375 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,065,087...85,148,057
Ensembl chr13:85,065,087...85,078,920
JBrowse link
G LINC00376 long intergenic non-protein coding RNA 376 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,183,101...63,328,094
Ensembl chr13:63,183,096...63,328,129
JBrowse link
G LINC00377 long intergenic non-protein coding RNA 377 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,018,391...81,044,442
Ensembl chr13:81,018,176...81,044,691
JBrowse link
G LINC00378 long intergenic non-protein coding RNA 378 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,672,955...60,695,806
Ensembl chr13:60,618,991...61,176,758
JBrowse link
G LINC00381 long intergenic non-protein coding RNA 381 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,419,173...74,435,159
Ensembl chr13:74,419,158...74,444,735
JBrowse link
G LINC00382 long intergenic non-protein coding RNA 382 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,872,586...79,918,036
Ensembl chr13:79,872,586...79,918,042
JBrowse link
G LINC00383 long intergenic non-protein coding RNA 383 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,222,346...69,322,101
Ensembl chr13:69,221,866...69,322,190
JBrowse link
G LINC00392 long intergenic non-protein coding RNA 392 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,564,244...73,587,879
Ensembl chr13:73,564,244...73,588,070
JBrowse link
G LINC00393 long intergenic non-protein coding RNA 393 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,545,901...73,661,903
Ensembl chr13:73,413,473...73,661,891
JBrowse link
G LINC00395 long intergenic non-protein coding RNA 395 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,667,682...63,738,018
Ensembl chr13:63,667,681...63,738,018
JBrowse link
G LINC00402 long intergenic non-protein coding RNA 402 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,231,444...74,259,976
Ensembl chr13:74,231,401...74,259,976
JBrowse link
G LINC00430 long intergenic non-protein coding RNA 430 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:86,909,601...86,936,807
Ensembl chr13:86,909,586...86,937,108
JBrowse link
G LINC00434 long intergenic non-protein coding RNA 434 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,214,347...60,268,104
Ensembl chr13:60,214,352...60,214,946
JBrowse link
G LINC00444 long intergenic non-protein coding RNA 444 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,903,806...47,935,824 JBrowse link
G LINC00446 long intergenic non-protein coding RNA 446 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,012,883...78,053,595
Ensembl chr13:77,997,909...78,053,604
JBrowse link
G LINC00448 long intergenic non-protein coding RNA 448 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,672,285...62,807,359
Ensembl chr13:62,672,285...62,796,714
JBrowse link
G LINC00458 long intergenic non-protein coding RNA 458 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,124,324...54,132,871
Ensembl chr13:53,950,255...54,270,397
JBrowse link
G LINC00459 long intergenic non-protein coding RNA 459 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,323,657...62,328,847
Ensembl chr13:62,323,657...62,328,833
JBrowse link
G LINC00462 long intergenic non-protein coding RNA 462 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,576,974...48,580,901
Ensembl chr13:48,576,974...48,590,587
JBrowse link
G LINC00550 long intergenic non-protein coding RNA 550 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,861,284...68,885,325
Ensembl chr13:68,861,284...68,885,325
JBrowse link
G LINC00558 long intergenic non-protein coding RNA 558 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,815,419...53,876,119
Ensembl chr13:53,815,419...53,939,960
JBrowse link
G LINC00561 long intergenic non-protein coding RNA 561 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,932,398...75,935,132
Ensembl chr13:75,932,395...75,935,132
JBrowse link
G LINC00562 long intergenic non-protein coding RNA 562 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,930,153...47,932,622
Ensembl chr13:47,930,153...47,932,622
JBrowse link
G LINC00564 long intergenic non-protein coding RNA 564 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,225,865...81,226,983
Ensembl chr13:81,225,865...81,226,983
JBrowse link
G LINC01038 long intergenic non-protein coding RNA 1038 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,804,386...79,805,682
Ensembl chr13:79,804,418...79,805,685
JBrowse link
G LINC01052 long intergenic non-protein coding RNA 1052 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,866,047...65,878,219
Ensembl chr13:65,866,070...65,922,731
JBrowse link
G LINC01065 long intergenic non-protein coding RNA 1065 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,131,746...53,151,900
Ensembl chr13:53,099,397...53,151,914
JBrowse link
G LINC01068 long intergenic non-protein coding RNA 1068 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,566,727...79,571,446
Ensembl chr13:79,566,678...79,571,445
JBrowse link
G LINC01069 long intergenic non-protein coding RNA 1069 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,979,766...77,994,773
Ensembl chr13:77,979,817...77,997,881
JBrowse link
G LINC01074 long intergenic non-protein coding RNA 1074 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,321,305...62,322,398
Ensembl chr13:62,321,305...62,322,398
JBrowse link
G LINC01075 long intergenic non-protein coding RNA 1075 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,212,282...62,249,951
Ensembl chr13:62,212,577...62,249,947
JBrowse link
G LINC01077 long intergenic non-protein coding RNA 1077 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,567,598...48,590,598
Ensembl chr13:48,570,639...48,573,317
JBrowse link
G LINC01078 long intergenic non-protein coding RNA 1078 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,240,588...75,252,012
Ensembl chr13:75,250,480...75,252,012
JBrowse link
G LINC01080 long intergenic non-protein coding RNA 1080 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,011,077...80,026,663
Ensembl chr13:80,011,077...80,028,283
JBrowse link
G LINC01442 long intergenic non-protein coding RNA 1442 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,916,755...60,945,955
Ensembl chr13:60,916,981...60,945,955
JBrowse link
G LINC02333 long intergenic non-protein coding RNA 2333 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,334,295...52,341,883
Ensembl chr13:52,334,295...52,341,896
JBrowse link
G LINC02335 long intergenic non-protein coding RNA 2335 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,053,807...55,182,736
Ensembl chr13:55,062,945...55,161,490
Ensembl chr13:55,062,945...55,161,490
JBrowse link
G LINC02338 long intergenic non-protein coding RNA 2338 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,165,827...58,209,483
Ensembl chr13:58,165,827...58,209,483
JBrowse link
G LINC02339 long intergenic non-protein coding RNA 2339 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,424,689...61,427,946
Ensembl chr13:61,424,689...61,427,946
JBrowse link
G LMO7 LIM domain 7 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,620,434...75,859,870
Ensembl chr13:75,620,434...75,859,870
JBrowse link
G LMO7-AS1 LMO7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,604,700...75,635,994
Ensembl chr13:75,604,700...75,635,994
JBrowse link
G LMO7DN LMO7 downstream neighbor IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,871,038...75,883,813
Ensembl chr13:75,871,038...75,883,811
JBrowse link
G LMO7DN-IT1 LMO7DN intronic transcript 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,876,886...75,881,127
Ensembl chr13:75,876,886...75,881,127
JBrowse link
G LOC105370203 uncharacterized LOC105370203 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,235,513...49,247,840 JBrowse link
G LOC105370268 lncRNA-ACOD1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G LOC107457599 meiotic recombination hotspot P IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,690,561...60,694,062 JBrowse link
G LOC107882127 EDNRB upstream promoter region IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,975,613...77,976,074 JBrowse link
G LOC107882129 EDNRB proximal promoter region IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,918,760...77,919,832 JBrowse link
G LOC109461478 ATXN8 opposite strand (non-protein coding) repeat instability region IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,139,352...70,139,429 JBrowse link
G LOC110120827 VISTA enhancer hs126 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,769,477...70,770,782 JBrowse link
G LOC110120828 VISTA enhancer hs129 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,200,716...71,201,236 JBrowse link
G LOC110120829 VISTA enhancer hs131 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,197,133...72,199,738 JBrowse link
G LOC110120830 VISTA enhancer hs135 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,574,916...72,575,890 JBrowse link
G LOC110120831 VISTA enhancer hs137 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,726,717...71,728,802 JBrowse link
G LOC110120832 VISTA enhancer hs138 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,851,655...71,854,203 JBrowse link
G LOC110120833 VISTA enhancer hs141 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,426,945...72,428,915 JBrowse link
G LOC110120834 VISTA enhancer hs142 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,507,309...72,509,616 JBrowse link
G LOC110120843 VISTA enhancer hs188 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,771,848...71,774,098 JBrowse link
G LOC110120891 VISTA enhancer hs540 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,783,961...70,785,375 JBrowse link
G LOC110120897 VISTA enhancer hs575 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,854,985...67,856,394 JBrowse link
G LOC110120909 VISTA enhancer hs619 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,759,384...71,760,856 JBrowse link
G LOC110120945 VISTA enhancer hs881 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,035,667...66,036,616 JBrowse link
G LOC110120946 VISTA enhancer hs882 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,958,905...70,960,063 JBrowse link
G LOC110120950 VISTA enhancer hs915 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,401,880...78,403,203 JBrowse link
G LOC110121360 VISTA enhancer hs1394 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,831,993...77,833,579 JBrowse link
G LOC110121375 VISTA enhancer hs1471 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,658,111...79,660,495 JBrowse link
G LOC111365190 HNF1 motif-containing MPRA enhancer 52 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,227,924...74,228,068 JBrowse link
G LOC112163662 MED14-independent group 3 enhancer GRCh37_chr13:48640162-48641361 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,066,026...48,067,225 JBrowse link
G LOC112163663 Sharpr-MPRA regulatory region 2352 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,104,673...52,104,967 JBrowse link
G LOC112163664 Sharpr-MPRA regulatory region 8029 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,850,374...52,850,668 JBrowse link
G LOC112163665 Sharpr-MPRA regulatory region 4317 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,584,335...60,584,629 JBrowse link
G LOC112163666 Sharpr-MPRA regulatory region 1301 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,625,916...63,626,210 JBrowse link
G LOC112163667 Sharpr-MPRA regulatory region 14942 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,057,157...68,057,451 JBrowse link
G LOC112163668 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:73663997-73665196 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,089,540...73,091,202 JBrowse link
G LOC112163669 Sharpr-MPRA regulatory region 11269 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,187,632...74,187,926 JBrowse link
G LOC112163670 Sharpr-MPRA regulatory region 2285 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,287,712...74,288,006 JBrowse link
G LOC112163671 Sharpr-MPRA regulatory region 1150 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,409,474...77,409,768 JBrowse link
G LOC112163672 Sharpr-MPRA regulatory region 2923 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,399,374...84,399,668 JBrowse link
G LOC113939939 Sharpr-MPRA regulatory region 13963 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,301,133...49,301,427 JBrowse link
G LOC121466733 Sharpr-MPRA regulatory region 15313 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,569,894...52,570,188 JBrowse link
G LOC121468000 Sharpr-MPRA regulatory region 8019 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,848,734...52,849,028 JBrowse link
G LOC121468001 Sharpr-MPRA regulatory region 7103 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,277,774...85,278,068 JBrowse link
G LOC121838575 Sharpr-MPRA regulatory region 8262 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,636,073...50,636,367 JBrowse link
G LOC121838576 Sharpr-MPRA regulatory region 10224 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,087,833...52,088,127 JBrowse link
G LOC121838577 Sharpr-MPRA regulatory region 11905 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,165,455...60,165,749 JBrowse link
G LOC121838578 Sharpr-MPRA regulatory region 561 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,261,635...60,261,929 JBrowse link
G LOC121838579 Sharpr-MPRA regulatory region 6918 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,871,677...64,871,971 JBrowse link
G LOC121838580 Sharpr-MPRA regulatory region 9192 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,152,134...80,152,428 JBrowse link
G LOC124885095 Sharpr-MPRA regulatory region 5997 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,094,313...48,094,607 JBrowse link
G LOC124885096 Sharpr-MPRA regulatory region 1366 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,199,453...48,199,747 JBrowse link
G LOC124885097 Sharpr-MPRA regulatory region 13035 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,586,633...48,586,927 JBrowse link
G LOC124885098 Sharpr-MPRA regulatory region 6847 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,303,673...49,303,967 JBrowse link
G LOC124900138 Sharpr-MPRA regulatory region 6161 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,633,733...49,634,027 JBrowse link
G LOC124900139 Sharpr-MPRA regulatory region 10165 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,746,153...49,746,447 JBrowse link
G LOC124900140 Sharpr-MPRA regulatory region 13323 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,976,693...49,976,987 JBrowse link
G LOC124900141 Sharpr-MPRA regulatory region 84 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,081,313...50,081,690 JBrowse link
G LOC124900142 Sharpr-MPRA regulatory region 6827 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,366,833...50,367,127 JBrowse link
G LOC124900143 Sharpr-MPRA regulatory region 8165 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,255,593...51,255,887 JBrowse link
G LOC124900144 Sharpr-MPRA regulatory region 8155 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,303,193...51,303,487 JBrowse link
G LOC124900146 Sharpr-MPRA regulatory region 2859 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,672,193...51,672,487 JBrowse link
G LOC124900147 Sharpr-MPRA regulatory region 15635 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,996,033...51,996,327 JBrowse link
G LOC124900148 Sharpr-MPRA regulatory region 2809 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,161,294...52,161,588 JBrowse link
G LOC124900149 Sharpr-MPRA regulatory region 6127 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,782,534...53,782,828 JBrowse link
G LOC124900150 Sharpr-MPRA regulatory region 1645 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,517,374...55,517,668 JBrowse link
G LOC124900151 Sharpr-MPRA regulatory region 559 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,661,414...55,661,708 JBrowse link
G LOC124900152 Sharpr-MPRA regulatory region 3887 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,152,655...57,152,949 JBrowse link
G LOC124900153 Sharpr-MPRA regulatory region 8499 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,492,435...57,492,729 JBrowse link
G LOC124900154 Sharpr-MPRA regulatory region 8361 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,751,015...59,751,309 JBrowse link
G LOC124900155 Sharpr-MPRA regulatory region 6777 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,765,955...60,766,249 JBrowse link
G LOC124900156 Sharpr-MPRA regulatory region 11307 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,212,296...62,212,590 JBrowse link
G LOC124900157 Sharpr-MPRA regulatory region 7190 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,054,356...64,054,650 JBrowse link
G LOC124900158 Sharpr-MPRA regulatory region 870 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,758,577...64,758,871 JBrowse link
G LOC124900159 Sharpr-MPRA regulatory region 7062 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,869,517...64,869,811 JBrowse link
G LOC124900160 Sharpr-MPRA regulatory region 7593 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,638,477...65,638,771 JBrowse link
G LOC124900161 Sharpr-MPRA regulatory region 12707 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,568,077...66,568,371 JBrowse link
G LOC124909500 Sharpr-MPRA regulatory region 9294 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,754,817...67,755,111 JBrowse link
G LOC124909501 Sharpr-MPRA regulatory region 6884 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,621,137...71,621,431 JBrowse link
G LOC124909502 Sharpr-MPRA regulatory region 11619 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,349,653...75,349,947 JBrowse link
G LOC124909503 Sharpr-MPRA regulatory region 14274 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,547,934...80,548,228 JBrowse link
G LOC124909504 Sharpr-MPRA regulatory region 7086 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,241,014...85,241,308 JBrowse link
G LOC124909505 Sharpr-MPRA regulatory region 1723 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,864,974...85,865,268 JBrowse link
G LOC126861767 BRD4-independent group 4 enhancer GRCh37_chr13:47676673-47677872 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,102,538...47,103,737 JBrowse link
G LOC126861768 BRD4-independent group 4 enhancer GRCh37_chr13:48095470-48096669 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,521,335...47,522,534 JBrowse link
G LOC126861769 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48431764-48432963 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,857,629...47,858,828 JBrowse link
G LOC126861770 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48575750-48576949 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,614...48,002,813 JBrowse link
G LOC126861771 MED14-independent group 3 enhancer GRCh37_chr13:48646101-48647300 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,071,965...48,073,164 JBrowse link
G LOC126861772 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49323510-49324709 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,749,374...48,750,573 JBrowse link
G LOC126861773 BRD4-independent group 4 enhancer GRCh37_chr13:49632061-49633260 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,057,925...49,059,124 JBrowse link
G LOC126861774 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49888093-49889292 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,313,957...49,315,156 JBrowse link
G LOC126861775 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:50818353-50819552 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,244,217...50,245,416 JBrowse link
G LOC126861776 MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,528,832...50,530,349 JBrowse link
G LOC126861777 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51684668-51685867 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,110,532...51,111,731 JBrowse link
G LOC126861778 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51686552-51687751 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,112,416...51,113,615 JBrowse link
G LOC126861779 MED14-independent group 3 enhancer GRCh37_chr13:52052769-52053968 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,478,633...51,479,832 JBrowse link
G LOC126861780 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,861,571...51,862,770 JBrowse link
G LOC126861781 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,927,729...51,928,928 JBrowse link
G LOC126861782 BRD4-independent group 4 enhancer GRCh37_chr13:52706487-52707686 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,132,351...52,133,550 JBrowse link
G LOC126861783 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52922389-52923588 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,348,254...52,349,453 JBrowse link
G LOC126861784 MED14-independent group 3 enhancer GRCh37_chr13:55060370-55061569 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,486,235...54,487,434 JBrowse link
G LOC126861785 MED14-independent group 3 enhancer GRCh37_chr13:57137111-57138310 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,562,977...56,564,176 JBrowse link
G LOC126861786 MED14-independent group 3 enhancer GRCh37_chr13:62131441-62132640 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,557,308...61,558,507 JBrowse link
G LOC126861787 BRD4-independent group 4 enhancer GRCh37_chr13:62241013-62242212 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,666,880...61,668,079 JBrowse link
G LOC126861788 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:63216915-63218114 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,642,782...62,643,981 JBrowse link
G LOC126861789 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:65360601-65361800 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,786,469...64,787,668 JBrowse link
G LOC126861790 MED14-independent group 3 enhancer GRCh37_chr13:66251524-66252723 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,677,392...65,678,591 JBrowse link
G LOC126861791 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:66487207-66488406 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,913,075...65,914,274 JBrowse link
G LOC126861792 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:67507550-67508749 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,933,418...66,934,617 JBrowse link
G LOC126861793 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:68764645-68765844 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,190,513...68,191,712 JBrowse link
G LOC126861794 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:69462586-69463785 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,888,454...68,889,653 JBrowse link
G LOC126861795 MED14-independent group 3 enhancer GRCh37_chr13:70544083-70545282 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,969,951...69,971,150 JBrowse link
G LOC126861796 BRD4-independent group 4 enhancer GRCh37_chr13:72741998-72743197 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,167,860...72,169,059 JBrowse link
G LOC126861797 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:72744178-72745377 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,170,040...72,171,239 JBrowse link
G LOC126861798 BRD4-independent group 4 enhancer GRCh37_chr13:73797915-73799114 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,223,778...73,224,977 JBrowse link
G LOC126861799 BRD4-independent group 4 enhancer GRCh37_chr13:74289066-74290265 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,714,929...73,716,128 JBrowse link
G LOC126861800 BRD4-independent group 4 enhancer GRCh37_chr13:75709394-75710593 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,135,257...75,136,456 JBrowse link
G LOC126861801 BRD4-independent group 4 enhancer GRCh37_chr13:75899800-75900999 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,325,664...75,326,863 JBrowse link
G LOC126861802 MED14-independent group 3 enhancer GRCh37_chr13:76279181-76280380 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,705,045...75,706,244 JBrowse link
G LOC126861803 MED14-independent group 3 enhancer GRCh37_chr13:77491455-77492654 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,917,185...76,918,520 JBrowse link
G LOC126861804 BRD4-independent group 4 enhancer GRCh37_chr13:77566521-77567720 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,992,386...76,993,585 JBrowse link
G LOC126861805 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:78675991-78677190 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,101,856...78,103,055 JBrowse link
G LOC126861806 MED14-independent group 3 enhancer GRCh37_chr13:80134686-80135885 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,560,551...79,561,750 JBrowse link
G LOC126861807 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:80510429-80511628 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,936,294...79,937,493 JBrowse link
G LOC126861808 MED14-independent group 3 enhancer GRCh37_chr13:80766325-80767524 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,191,999...80,193,389 JBrowse link
G LOC126861809 BRD4-independent group 4 enhancer GRCh37_chr13:84091305-84092504 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:83,517,170...83,518,369 JBrowse link
G LOC126861810 BRD4-independent group 4 enhancer GRCh37_chr13:85258624-85259823 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,684,489...84,685,688 JBrowse link
G LOC126861811 MED14-independent group 3 enhancer GRCh37_chr13:86238925-86240124 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,664,790...85,665,989 JBrowse link
G LOC126861812 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:87694909-87696108 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:87,042,654...87,043,853 JBrowse link
G LOC127898562 uncharacterized LOC127898562 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,326,905...77,326,988 JBrowse link
G LOC129390601 MPRA-validated peak2077 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,677,164...69,677,364 JBrowse link
G LOC129390602 MPRA-validated peak2084 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,791,940...80,792,140 JBrowse link
G LOC129390603 MPRA-validated peak2085 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,199,621...81,199,821 JBrowse link
G LOC129390604 MPRA-validated peak2087 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,252,461...81,252,661 JBrowse link
G LOC129390605 MPRA-validated peak2090 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:82,415,161...82,415,361 JBrowse link
G LOC129390606 MPRA-validated peak2091 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:82,565,281...82,565,481 JBrowse link
G LOC129390607 MPRA-validated peak2098 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:87,336,221...87,336,421 JBrowse link
G LOC130009742 ATAC-STARR-seq lymphoblastoid silent region 5329 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:46,992,483...46,992,542 JBrowse link
G LOC130009743 ATAC-STARR-seq lymphoblastoid active region 7715 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,036,753...47,036,852 JBrowse link
G LOC130009744 ATAC-STARR-seq lymphoblastoid active region 7716 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,100,726...47,100,775 JBrowse link
G LOC130009745 ATAC-STARR-seq lymphoblastoid active region 7717 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,000,908...48,000,957 JBrowse link
G LOC130009746 ATAC-STARR-seq lymphoblastoid active region 7718 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,000,978...48,001,027 JBrowse link
G LOC130009747 ATAC-STARR-seq lymphoblastoid active region 7719 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,048...48,001,237 JBrowse link
G LOC130009748 ATAC-STARR-seq lymphoblastoid silent region 5330 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,358...48,001,467 JBrowse link
G LOC130009749 ATAC-STARR-seq lymphoblastoid active region 7723 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,156,615...48,156,734 JBrowse link
G LOC130009750 ATAC-STARR-seq lymphoblastoid active region 7724 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,186,386...48,186,615 JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,233,452...48,233,661 JBrowse link
G LOC130009753 ATAC-STARR-seq lymphoblastoid active region 7725 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,287,247...48,287,306 JBrowse link
G LOC130009754 ATAC-STARR-seq lymphoblastoid active region 7726 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,304,403...48,304,452 JBrowse link
G LOC130009755 ATAC-STARR-seq lymphoblastoid active region 7727 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,304,693...48,304,762 JBrowse link
G LOC130009756 ATAC-STARR-seq lymphoblastoid active region 7728 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,489,080...48,489,219 JBrowse link
G LOC130009757 ATAC-STARR-seq lymphoblastoid active region 7729 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,489,230...48,489,279 JBrowse link
G LOC130009758 ATAC-STARR-seq lymphoblastoid active region 7730 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,493,481...48,493,560 JBrowse link
G LOC130009759 ATAC-STARR-seq lymphoblastoid silent region 5334 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,500,763...48,500,922 JBrowse link
G LOC130009760 ATAC-STARR-seq lymphoblastoid active region 7731 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,505,507...48,505,776 JBrowse link
G LOC130009761 ATAC-STARR-seq lymphoblastoid active region 7732 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,531,396...48,531,565 JBrowse link
G LOC130009762 ATAC-STARR-seq lymphoblastoid active region 7733 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,532,456...48,532,695 JBrowse link
G LOC130009763 ATAC-STARR-seq lymphoblastoid silent region 5335 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,532,736...48,533,135 JBrowse link
G LOC130009764 ATAC-STARR-seq lymphoblastoid silent region 5336 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,533,246...48,533,295 JBrowse link
G LOC130009765 ATAC-STARR-seq lymphoblastoid active region 7734 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,561,596...48,561,695 JBrowse link
G LOC130009766 ATAC-STARR-seq lymphoblastoid active region 7735 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,579,484...48,579,553 JBrowse link
G LOC130009767 ATAC-STARR-seq lymphoblastoid active region 7736 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,579,574...48,579,623 JBrowse link
G LOC130009768 ATAC-STARR-seq lymphoblastoid active region 7737 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,884,402...48,884,641 JBrowse link
G LOC130009769 ATAC-STARR-seq lymphoblastoid active region 7738 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,961,540...48,961,709 JBrowse link
G LOC130009770 ATAC-STARR-seq lymphoblastoid active region 7739 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,975,117...48,975,176 JBrowse link
G LOC130009771 ATAC-STARR-seq lymphoblastoid active region 7741 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,976,847...48,976,946 JBrowse link
G LOC130009772 ATAC-STARR-seq lymphoblastoid active region 7742 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,082,622...49,082,871 JBrowse link
G LOC130009773 ATAC-STARR-seq lymphoblastoid active region 7743 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,083,062...49,083,121 JBrowse link
G LOC130009774 ATAC-STARR-seq lymphoblastoid active region 7744 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,083,332...49,083,421 JBrowse link
G LOC130009775 ATAC-STARR-seq lymphoblastoid silent region 5340 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,220,291...49,220,370 JBrowse link
G LOC130009776 ATAC-STARR-seq lymphoblastoid active region 7746 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,443,442...49,443,511 JBrowse link
G LOC130009777 ATAC-STARR-seq lymphoblastoid active region 7748 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,495,755...49,495,994 JBrowse link
G LOC130009778 ATAC-STARR-seq lymphoblastoid silent region 5342 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,496,015...49,496,294 JBrowse link
G LOC130009779 ATAC-STARR-seq lymphoblastoid active region 7749 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,496,485...49,496,534 JBrowse link
G LOC130009780 ATAC-STARR-seq lymphoblastoid silent region 5343 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,585,082...49,585,791 JBrowse link
G LOC130009781 ATAC-STARR-seq lymphoblastoid active region 7750 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,606,886...49,607,105 JBrowse link
G LOC130009782 ATAC-STARR-seq lymphoblastoid active region 7752 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,628,759...49,628,808 JBrowse link
G LOC130009783 ATAC-STARR-seq lymphoblastoid active region 7753 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,635,806...49,635,855 JBrowse link
G LOC130009784 ATAC-STARR-seq lymphoblastoid silent region 5346 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,759,608...49,759,677 JBrowse link
G LOC130009785 ATAC-STARR-seq lymphoblastoid active region 7755 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,936,151...49,936,400 JBrowse link
G LOC130009786 ATAC-STARR-seq lymphoblastoid silent region 5349 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,936,441...49,936,690 JBrowse link
G LOC130009787 ATAC-STARR-seq lymphoblastoid active region 7756 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,937,271...49,937,320 JBrowse link
G LOC130009788 ATAC-STARR-seq lymphoblastoid silent region 5350 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,009...49,996,058 JBrowse link
G LOC130009789 ATAC-STARR-seq lymphoblastoid active region 7757 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,339...49,996,468 JBrowse link
G LOC130009790 ATAC-STARR-seq lymphoblastoid silent region 5351 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,649...49,996,778 JBrowse link
G LOC130009791 ATAC-STARR-seq lymphoblastoid active region 7758 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,027,127...50,027,216 JBrowse link
G LOC130009792 ATAC-STARR-seq lymphoblastoid active region 7759 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,080,621...50,080,680 JBrowse link
G LOC130009793 ATAC-STARR-seq lymphoblastoid silent region 5353 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,082,091...50,082,140 JBrowse link
G LOC130009794 ATAC-STARR-seq lymphoblastoid silent region 5354 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,124,004...50,124,513 JBrowse link
G LOC130009795 ATAC-STARR-seq lymphoblastoid silent region 5355 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,124,594...50,125,103 JBrowse link
G LOC130009796 ATAC-STARR-seq lymphoblastoid silent region 5356 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,125,424...50,125,633 JBrowse link
G LOC130009797 ATAC-STARR-seq lymphoblastoid silent region 5358 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,130,335...50,130,434 JBrowse link
G LOC130009798 ATAC-STARR-seq lymphoblastoid silent region 5359 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,131,211...50,131,290 JBrowse link
G LOC130009799 ATAC-STARR-seq lymphoblastoid active region 7760 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,153,018...50,153,067 JBrowse link
G LOC130009800 ATAC-STARR-seq lymphoblastoid silent region 5360 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,594,477...50,594,676 JBrowse link
G LOC130009801 ATAC-STARR-seq lymphoblastoid active region 7761 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,594,777...50,594,976 JBrowse link
G LOC130009802 ATAC-STARR-seq lymphoblastoid active region 7762 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,635,477...50,635,676 JBrowse link
G LOC130009803 ATAC-STARR-seq lymphoblastoid active region 7763 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,731,487...50,731,686 JBrowse link
G LOC130009804 ATAC-STARR-seq lymphoblastoid active region 7764 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,756,233...50,756,282 JBrowse link
G LOC130009805 ATAC-STARR-seq lymphoblastoid active region 7765 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,756,313...50,756,362 JBrowse link
G LOC130009806 ATAC-STARR-seq lymphoblastoid active region 7766 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,756,393...50,756,502 JBrowse link
G LOC130009807 ATAC-STARR-seq lymphoblastoid active region 7767 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,801,246...50,801,295 JBrowse link
G LOC130009808 ATAC-STARR-seq lymphoblastoid active region 7768 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,801,366...50,801,465 JBrowse link
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,909,606...50,910,035 JBrowse link
G LOC130009810 ATAC-STARR-seq lymphoblastoid silent region 5362 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,910,046...50,910,285 JBrowse link
G LOC130009811 ATAC-STARR-seq lymphoblastoid silent region 5363 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,910,496...50,910,545 JBrowse link
G LOC130009812 ATAC-STARR-seq lymphoblastoid active region 7770 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,914,903...50,914,992 JBrowse link
G LOC130009813 ATAC-STARR-seq lymphoblastoid active region 7771 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,917,191...50,917,340 JBrowse link
G LOC130009814 ATAC-STARR-seq lymphoblastoid silent region 5364 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,125,838...51,125,887 JBrowse link
G LOC130009815 ATAC-STARR-seq lymphoblastoid active region 7772 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,331,304...51,331,433 JBrowse link
G LOC130009816 ATAC-STARR-seq lymphoblastoid silent region 5367 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,451,572...51,451,621 JBrowse link
G LOC130009817 ATAC-STARR-seq lymphoblastoid silent region 5368 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,451,682...51,451,841 JBrowse link
G LOC130009818 ATAC-STARR-seq lymphoblastoid silent region 5369 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,451,912...51,452,051 JBrowse link
G LOC130009819 ATAC-STARR-seq lymphoblastoid silent region 5370 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,452,062...51,452,181 JBrowse link
G LOC130009820 ATAC-STARR-seq lymphoblastoid silent region 5371 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,452,192...51,452,461 JBrowse link
G LOC130009821 ATAC-STARR-seq lymphoblastoid silent region 5372 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,452,702...51,452,961 JBrowse link
G LOC130009822 ATAC-STARR-seq lymphoblastoid active region 7773 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,022...51,453,071 JBrowse link
G LOC130009823 ATAC-STARR-seq lymphoblastoid silent region 5373 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,192...51,453,391 JBrowse link
G LOC130009824 ATAC-STARR-seq lymphoblastoid silent region 5374 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,482...51,453,801 JBrowse link
G LOC130009825 ATAC-STARR-seq lymphoblastoid active region 7774 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,502,500...51,502,649 JBrowse link
G LOC130009826 ATAC-STARR-seq lymphoblastoid silent region 5375 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,584,313...51,584,682 JBrowse link
G LOC130009827 ATAC-STARR-seq lymphoblastoid active region 7776 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,614,386...51,614,445 JBrowse link
G LOC130009828 ATAC-STARR-seq lymphoblastoid active region 7777 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,614,476...51,614,565 JBrowse link
G LOC130009829 ATAC-STARR-seq lymphoblastoid active region 7778 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,764,521...51,764,840 JBrowse link
G LOC130009830 ATAC-STARR-seq lymphoblastoid silent region 5376 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,781,498...51,781,547 JBrowse link
G LOC130009831 ATAC-STARR-seq lymphoblastoid active region 7779 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,793,788...51,794,147 JBrowse link
G LOC130009832 ATAC-STARR-seq lymphoblastoid active region 7780 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,797,652...51,797,731 JBrowse link
G LOC130009833 ATAC-STARR-seq lymphoblastoid active region 7781 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,802,479...51,802,528 JBrowse link
G LOC130009834 ATAC-STARR-seq lymphoblastoid silent region 5377 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,803,724...51,804,363 JBrowse link
G LOC130009835 ATAC-STARR-seq lymphoblastoid active region 7782 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,804,914...51,805,043 JBrowse link
G LOC130009836 ATAC-STARR-seq lymphoblastoid active region 7783 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,945,371...51,945,440 JBrowse link
G LOC130009837 ATAC-STARR-seq lymphoblastoid active region 7784 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,945,501...51,945,600 JBrowse link
G LOC130009838 ATAC-STARR-seq lymphoblastoid silent region 5378 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,011,657...52,011,996 JBrowse link
G LOC130009839 ATAC-STARR-seq lymphoblastoid silent region 5379 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,047...52,012,156 JBrowse link
G LOC130009840 ATAC-STARR-seq lymphoblastoid silent region 5380 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,167...52,012,266 JBrowse link
G LOC130009841 ATAC-STARR-seq lymphoblastoid active region 7785 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,387...52,012,516 JBrowse link
G LOC130009842 ATAC-STARR-seq lymphoblastoid active region 7786 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,567...52,012,656 JBrowse link
G LOC130009843 ATAC-STARR-seq lymphoblastoid silent region 5381 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,159,284...52,159,393 JBrowse link
G LOC130009844 ATAC-STARR-seq lymphoblastoid silent region 5382 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,159,474...52,159,533 JBrowse link
G LOC130009845 ATAC-STARR-seq lymphoblastoid active region 7787 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,194,357...52,194,626 JBrowse link
G LOC130009846 ATAC-STARR-seq lymphoblastoid active region 7788 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,194,667...52,194,716 JBrowse link
G LOC130009847 ATAC-STARR-seq lymphoblastoid active region 7789 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,194,757...52,194,806 JBrowse link
G LOC130009848 ATAC-STARR-seq lymphoblastoid silent region 5384 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,406,102...52,406,261 JBrowse link
G LOC130009849 ATAC-STARR-seq lymphoblastoid silent region 5386 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,450,821...52,450,880 JBrowse link
G LOC130009850 ATAC-STARR-seq lymphoblastoid active region 7790 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,454,629...52,454,808 JBrowse link
G LOC130009851 ATAC-STARR-seq lymphoblastoid active region 7791 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,455,099...52,455,178 JBrowse link
G LOC130009852 ATAC-STARR-seq lymphoblastoid active region 7792 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,616,840...52,616,959 JBrowse link
G LOC130009853 ATAC-STARR-seq lymphoblastoid active region 7793 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,617,350...52,617,569 JBrowse link
G LOC130009854 ATAC-STARR-seq lymphoblastoid active region 7794 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,652,137...52,652,476 JBrowse link
G LOC130009855 ATAC-STARR-seq lymphoblastoid active region 7795 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,653,197...52,653,316 JBrowse link
G LOC130009856 ATAC-STARR-seq lymphoblastoid active region 7796 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,851,343...52,851,552 JBrowse link
G LOC130009857 ATAC-STARR-seq lymphoblastoid active region 7797 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,921,152...52,921,201 JBrowse link
G LOC130009858 ATAC-STARR-seq lymphoblastoid active region 7798 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,391,812...59,391,921 JBrowse link
G LOC130009859 ATAC-STARR-seq lymphoblastoid active region 7799 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,164,317...60,164,366 JBrowse link
G LOC130009860 ATAC-STARR-seq lymphoblastoid silent region 5389 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,329,699...60,329,768 JBrowse link
G LOC130009861 ATAC-STARR-seq lymphoblastoid active region 7800 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,396,142...60,396,211 JBrowse link
G LOC130009862 ATAC-STARR-seq lymphoblastoid silent region 5390 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,397,282...60,397,851 JBrowse link
G LOC130009863 ATAC-STARR-seq lymphoblastoid active region 7803 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,398,022...60,398,071 JBrowse link
G LOC130009864 ATAC-STARR-seq lymphoblastoid active region 7804 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,247,545...61,247,594 JBrowse link
G LOC130009865 ATAC-STARR-seq lymphoblastoid active region 7805 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,209,709...62,209,808 JBrowse link
G LOC130009866 ATAC-STARR-seq lymphoblastoid active region 7806 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,511,138...62,511,197 JBrowse link
G LOC130009867 ATAC-STARR-seq lymphoblastoid active region 7807 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,512,541...62,512,680 JBrowse link
G LOC130009868 ATAC-STARR-seq lymphoblastoid silent region 5391 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,230,607...67,230,746 JBrowse link
G LOC130009869 ATAC-STARR-seq lymphoblastoid silent region 5392 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,565,561...69,565,680 JBrowse link
G LOC130009870 ATAC-STARR-seq lymphoblastoid active region 7809 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,021,887...71,022,126 JBrowse link
G LOC130009871 ATAC-STARR-seq lymphoblastoid silent region 5393 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,056,847...71,056,936 JBrowse link
G LOC130009872 ATAC-STARR-seq lymphoblastoid active region 7810 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,291,189...71,291,478 JBrowse link
G LOC130009873 ATAC-STARR-seq lymphoblastoid active region 7811 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,876,041...71,876,090 JBrowse link
G LOC130009874 ATAC-STARR-seq lymphoblastoid active region 7812 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,879,127...71,879,406 JBrowse link
G LOC130009875 ATAC-STARR-seq lymphoblastoid active region 7813 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,727,365...72,727,434 JBrowse link
G LOC130009876 ATAC-STARR-seq lymphoblastoid silent region 5395 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,727,795...72,727,944 JBrowse link
G LOC130009877 ATAC-STARR-seq lymphoblastoid active region 7814 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,728,155...72,728,204 JBrowse link
G LOC130009878 ATAC-STARR-seq lymphoblastoid active region 7816 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,864,856...72,865,025 JBrowse link
G LOC130009879 ATAC-STARR-seq lymphoblastoid silent region 5397 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,058,749...73,059,358 JBrowse link
G LOC130009880 ATAC-STARR-seq lymphoblastoid silent region 5398 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,059,679...73,059,768 JBrowse link
G LOC130009881 ATAC-STARR-seq lymphoblastoid active region 7817 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,026,803...74,026,882 JBrowse link
G LOC130009882 ATAC-STARR-seq lymphoblastoid active region 7818 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,132,882...74,133,061 JBrowse link
G LOC130009883 ATAC-STARR-seq lymphoblastoid active region 7819 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,133,092...74,133,141 JBrowse link
G LOC130009884 ATAC-STARR-seq lymphoblastoid silent region 5399 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,134,151...74,135,900 JBrowse link
G LOC130009885 ATAC-STARR-seq lymphoblastoid active region 7820 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,158,047...74,158,156 JBrowse link
G LOC130009886 ATAC-STARR-seq lymphoblastoid active region 7821 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,310,591...75,310,650 JBrowse link
G LOC130009887 ATAC-STARR-seq lymphoblastoid active region 7822 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,326,924...75,327,043 JBrowse link
G LOC130009888 ATAC-STARR-seq lymphoblastoid active region 7823 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,365,708...75,365,977 JBrowse link
G LOC130009889 ATAC-STARR-seq lymphoblastoid active region 7824 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,385,357...75,385,406 JBrowse link
G LOC130009890 ATAC-STARR-seq lymphoblastoid active region 7825 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,391,416...75,391,465 JBrowse link
G LOC130009891 ATAC-STARR-seq lymphoblastoid active region 7826 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,395,327...75,395,376 JBrowse link
G LOC130009892 ATAC-STARR-seq lymphoblastoid silent region 5401 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,480,803...75,481,172 JBrowse link
G LOC130009893 ATAC-STARR-seq lymphoblastoid silent region 5402 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,481,773...75,482,222 JBrowse link
G LOC130009894 ATAC-STARR-seq lymphoblastoid active region 7827 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,482,703...75,482,792 JBrowse link
G LOC130009895 ATAC-STARR-seq lymphoblastoid active region 7828 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,513,518...75,513,567 JBrowse link
G LOC130009896 ATAC-STARR-seq lymphoblastoid active region 7829 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,537,883...75,537,962 JBrowse link
G LOC130009897 ATAC-STARR-seq lymphoblastoid active region 7830 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,549,236...75,549,305 JBrowse link
G LOC130009898 ATAC-STARR-seq lymphoblastoid active region 7831 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,549,566...75,549,685 JBrowse link
G LOC130009899 ATAC-STARR-seq lymphoblastoid silent region 5403 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,635,723...75,636,412 JBrowse link
G LOC130009900 ATAC-STARR-seq lymphoblastoid silent region 5404 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,636,443...75,636,492 JBrowse link
G LOC130009901 ATAC-STARR-seq lymphoblastoid silent region 5405 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,636,563...75,636,702 JBrowse link
G LOC130009902 ATAC-STARR-seq lymphoblastoid active region 7834 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,646,647...75,646,696 JBrowse link
G LOC130009903 ATAC-STARR-seq lymphoblastoid active region 7835 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,788,508...75,788,727 JBrowse link
G LOC130009904 ATAC-STARR-seq lymphoblastoid silent region 5406 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,876,567...75,876,656 JBrowse link
G LOC130009905 ATAC-STARR-seq lymphoblastoid silent region 5407 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,986,985...75,987,054 JBrowse link
G LOC130009906 ATAC-STARR-seq lymphoblastoid silent region 5408 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,016,953...76,017,002 JBrowse link
G LOC130009907 ATAC-STARR-seq lymphoblastoid silent region 5409 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,473,646...76,473,805 JBrowse link
G LOC130009908 ATAC-STARR-seq lymphoblastoid active region 7836 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,635,258...76,635,307 JBrowse link
G LOC130009909 ATAC-STARR-seq lymphoblastoid active region 7837 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,798,239...76,798,358 JBrowse link
G LOC130009910 ATAC-STARR-seq lymphoblastoid silent region 5411 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,886,203...76,886,632 JBrowse link
G LOC130009911 ATAC-STARR-seq lymphoblastoid silent region 5412 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,991,415...76,991,504 JBrowse link
G LOC130009912 ATAC-STARR-seq lymphoblastoid silent region 5413 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,991,595...76,991,664 JBrowse link
G LOC130009913 ATAC-STARR-seq lymphoblastoid silent region 5414 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,992,125...76,992,364 JBrowse link
G LOC130009914 ATAC-STARR-seq lymphoblastoid active region 7838 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,009,365...77,009,434 JBrowse link
G LOC130009915 ATAC-STARR-seq lymphoblastoid silent region 5415 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,026,700...77,026,759 JBrowse link
G LOC130009916 ATAC-STARR-seq lymphoblastoid silent region 5416 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,026,780...77,027,059 JBrowse link
G LOC130009917 ATAC-STARR-seq lymphoblastoid silent region 5417 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,027,230...77,027,279 JBrowse link
G LOC130009918 ATAC-STARR-seq lymphoblastoid active region 7839 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,184,786...77,184,835 JBrowse link
G LOC130009919 ATAC-STARR-seq lymphoblastoid active region 7840 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,325,394...77,325,573 JBrowse link
G LOC130009920 ATAC-STARR-seq lymphoblastoid silent region 5418 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,326,514...77,326,633 JBrowse link
G LOC130009921 ATAC-STARR-seq lymphoblastoid silent region 5419 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,326,674...77,327,053 JBrowse link
G LOC130009922 ATAC-STARR-seq lymphoblastoid active region 7841 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,327,244...77,327,573 JBrowse link
G LOC130009923 ATAC-STARR-seq lymphoblastoid active region 7842 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,329,595...77,329,674 JBrowse link
G LOC130009924 ATAC-STARR-seq lymphoblastoid active region 7843 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,339,301...77,339,490 JBrowse link
G LOC130009925 ATAC-STARR-seq lymphoblastoid active region 7844 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,429,603...77,429,812 JBrowse link
G LOC130009926 ATAC-STARR-seq lymphoblastoid active region 7845 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,448,677...77,449,056 JBrowse link
G LOC130009927 ATAC-STARR-seq lymphoblastoid silent region 5420 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,697,445...77,698,004 JBrowse link
G LOC130009928 ATAC-STARR-seq lymphoblastoid silent region 5421 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,698,205...77,698,444 JBrowse link
G LOC130009929 ATAC-STARR-seq lymphoblastoid silent region 5422 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,698,605...77,698,754 JBrowse link
G LOC130009930 ATAC-STARR-seq lymphoblastoid active region 7846 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,724,159...77,724,288 JBrowse link
G LOC130009931 ATAC-STARR-seq lymphoblastoid active region 7847 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,201,518...78,201,587 JBrowse link
G LOC130009932 ATAC-STARR-seq lymphoblastoid silent region 5424 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,603,343...78,603,502 JBrowse link
G LOC130009933 ATAC-STARR-seq lymphoblastoid active region 7849 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,109,115...79,109,194 JBrowse link
G LOC130009934 ATAC-STARR-seq lymphoblastoid silent region 5425 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,190,943...79,191,052 JBrowse link
G LOC130009935 ATAC-STARR-seq lymphoblastoid active region 7850 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,194,238...79,194,327 JBrowse link
G LOC130009936 ATAC-STARR-seq lymphoblastoid active region 7851 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,194,438...79,194,657 JBrowse link
G LOC130009937 ATAC-STARR-seq lymphoblastoid active region 7852 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,194,918...79,195,037 JBrowse link
G LOC130009938 ATAC-STARR-seq lymphoblastoid active region 7853 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,228,018...79,228,067 JBrowse link
G LOC130009939 ATAC-STARR-seq lymphoblastoid active region 7854 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,246,206...79,246,265 JBrowse link
G LOC130009940 ATAC-STARR-seq lymphoblastoid active region 7855 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,246,276...79,246,355 JBrowse link
G LOC130009941 ATAC-STARR-seq lymphoblastoid active region 7856 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,393,197...79,393,256 JBrowse link
G LOC130009942 ATAC-STARR-seq lymphoblastoid active region 7857 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,393,267...79,393,316 JBrowse link
G LOC130009943 ATAC-STARR-seq lymphoblastoid silent region 5427 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,468,945...79,469,054 JBrowse link
G LOC130009944 ATAC-STARR-seq lymphoblastoid active region 7859 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,048,939...80,049,188 JBrowse link
G LOC130009945 ATAC-STARR-seq lymphoblastoid active region 7860 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,338,930...80,338,979 JBrowse link
G LOC130009946 ATAC-STARR-seq lymphoblastoid silent region 5428 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,341,074...80,341,263 JBrowse link
G LOC130009947 ATAC-STARR-seq lymphoblastoid silent region 5429 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,341,494...80,341,543 JBrowse link
G LOC130009948 ATAC-STARR-seq lymphoblastoid active region 7861 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,873,699...80,873,778 JBrowse link
G LOC132090195 Neanderthal introgressed variant-containing enhancer experimental_32930 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,771,416...51,771,585 JBrowse link
G LOC132090196 Neanderthal introgressed variant-containing enhancer experimental_33081 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,453,153...63,453,322 JBrowse link
G LOC132090197 Neanderthal introgressed variant-containing enhancer experimental_33146 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,511,986...63,512,155 JBrowse link
G LOC132090198 Neanderthal introgressed variant-containing enhancer experimental_33299 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,954,112...73,954,281 JBrowse link
G LOC132090199 Neanderthal introgressed variant-containing enhancer experimental_33300 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,955,851...73,956,020 JBrowse link
G LOC132090200 Neanderthal introgressed variant-containing enhancer experimental_33301 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,956,068...73,956,237 JBrowse link
G LOC132090201 Neanderthal introgressed variant-containing enhancer experimental_33303 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,960,816...73,960,985 JBrowse link
G LOC132090202 Neanderthal introgressed variant-containing enhancer experimental_33391 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,451,310...80,451,479 JBrowse link
G LOC132090203 Neanderthal introgressed variant-containing enhancer experimental_33392 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,456,485...80,456,654 JBrowse link
G LOC132090204 Neanderthal introgressed variant-containing enhancer experimental_33463 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,615,418...80,615,587 JBrowse link
G LOC132090205 Neanderthal introgressed variant-containing enhancer experimental_33503 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,755,147...81,755,316 JBrowse link
G LOC132090864 Neanderthal introgressed variant-containing enhancer experimental_33339 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,354,777...77,354,946 JBrowse link
G LOC132090865 Neanderthal introgressed variant-containing enhancer experimental_33432 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,566,314...80,566,483 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
JBrowse link
G MED4 mediator complex subunit 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
JBrowse link
G MED4-AS1 MED4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,077,137...48,079,993
Ensembl chr13:48,077,137...48,079,991
JBrowse link
G MIR1297 microRNA 1297 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,311,972...54,312,048
Ensembl chr13:54,311,972...54,312,048
JBrowse link
G MIR15A microRNA 15a IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,049,119...50,049,201
Ensembl chr13:50,049,119...50,049,201
JBrowse link
G MIR16-1 microRNA 16-1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,048,973...50,049,061
Ensembl chr13:50,048,973...50,049,061
JBrowse link
G MIR3169 microRNA 3169 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,199,798...61,199,880
Ensembl chr13:61,199,798...61,199,880
JBrowse link
G MIR3613 microRNA 3613 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,415...49,996,501
Ensembl chr13:49,996,415...49,996,501
JBrowse link
G MIR3665 microRNA 3665 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,698,012...77,698,116
Ensembl chr13:77,698,012...77,698,116
JBrowse link
G MIR4703 microRNA 4703 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,552,589...51,552,667
Ensembl chr13:51,552,589...51,552,667
JBrowse link
G MIR4704 microRNA 4704 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,218,250...66,218,324
Ensembl chr13:66,218,250...66,218,324
JBrowse link
G MIR5007 microRNA 5007 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,174,454...55,174,548
Ensembl chr13:55,174,454...55,174,548
JBrowse link
G MIR548X2 microRNA 548x-2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,966,330...65,966,429
Ensembl chr13:65,966,330...65,966,429
JBrowse link
G MIR5693 microRNA 5693 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,348,567...51,348,639
Ensembl chr13:51,348,567...51,348,639
JBrowse link
G MIR759 microRNA 759 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,810,050...52,810,140
Ensembl chr13:52,810,050...52,810,140
JBrowse link
G MLNR motilin receptor IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,220,338...49,222,377
Ensembl chr13:49,220,338...49,222,377
JBrowse link
G MYCBP2 MYC binding protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,044,657...77,327,094
Ensembl chr13:77,042,474...77,327,094
JBrowse link
G MYCBP2-AS1 MYCBP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,075,514...77,087,776
Ensembl chr13:77,026,767...77,129,717
JBrowse link
G MYCBP2-AS2 MYCBP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,080,511...77,081,190
Ensembl chr13:77,080,511...77,081,190
JBrowse link
G MZT1 mitotic spindle organizing protein 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,708,367...72,727,629
Ensembl chr13:72,708,367...72,727,629
JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,481,155...79,556,077
Ensembl chr13:79,481,155...79,556,077
JBrowse link
G NDFIP2-AS1 NDFIP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,477,364...79,481,231
Ensembl chr13:79,477,364...79,481,231
JBrowse link
G NEK3 NIMA related kinase 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,132,647...52,159,860
Ensembl chr13:52,132,639...52,159,597
JBrowse link
G NEK5 NIMA related kinase 5 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,033,611...52,129,073
Ensembl chr13:52,033,611...52,129,092
JBrowse link
G NUDT15 nudix hydrolase 15 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221
JBrowse link
G OBI1 ORC ubiquitin ligase 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,614,289...78,659,155
Ensembl chr13:78,614,289...78,659,155
JBrowse link
G OBI1-AS1 OBI1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,054,855...78,617,325
Ensembl chr13:77,919,689...78,617,328
JBrowse link
G OLFM4 olfactomedin 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,028,813...53,052,057
Ensembl chr13:53,028,813...53,052,057
JBrowse link
G OR7E104P olfactory receptor family 7 subfamily E member 104 pseudogene IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,828,840...63,844,125
Ensembl chr13:63,828,840...63,844,125
JBrowse link
G PCDH17 protocadherin 17 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,630,108...57,729,311
Ensembl chr13:57,631,744...57,729,311
JBrowse link
G PCDH20 protocadherin 20 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,409,685...61,415,849
Ensembl chr13:61,409,685...61,415,849
JBrowse link
G PCDH8 protocadherin 8 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,842,889...52,848,640
Ensembl chr13:52,842,889...52,848,641
JBrowse link
G PCDH9 protocadherin 9 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,302,834...67,230,336
Ensembl chr13:66,302,834...67,230,445
JBrowse link
G PCDH9-AS1 PCDH9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,303,871...66,323,561
Ensembl chr13:66,303,871...66,323,561
JBrowse link
G PCDH9-AS2 PCDH9 antisense RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,825,169...66,915,031
Ensembl chr13:66,825,169...66,915,031
JBrowse link
G PCDH9-AS3 PCDH9 antisense RNA 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,977,389...66,985,776
Ensembl chr13:66,977,432...66,985,776
JBrowse link
G PCDH9-AS4 PCDH9 antisense RNA 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,990,886...67,002,000
Ensembl chr13:66,990,886...67,002,007
JBrowse link
G PHF11 PHD finger protein 11 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,495,953...49,528,976
Ensembl chr13:49,495,610...49,528,981
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PRR20A proline rich 20A IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,140,918...57,143,939
Ensembl chr13:57,140,918...57,143,939
JBrowse link
G PRR20B proline rich 20B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,147,488...57,150,509
Ensembl chr13:57,147,488...57,150,509
JBrowse link
G PRR20C proline rich 20C IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,154,061...57,157,082
Ensembl chr13:57,140,918...57,157,082
JBrowse link
G PRR20D proline rich 20D IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,160,632...57,163,653
Ensembl chr13:57,160,632...57,163,653
JBrowse link
G PRR20E proline rich 20E IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,167,197...57,170,218
Ensembl chr13:57,167,197...57,170,218
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RB1-DT RB1 divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,296,162...48,303,720
JBrowse link
G RBM26 RNA binding motif protein 26 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,311,827...79,406,255
Ensembl chr13:79,311,824...79,406,477
JBrowse link
G RBM26-AS1 RBM26 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,406,309...79,424,336
Ensembl chr13:79,406,293...79,427,317
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,488,963...48,535,895
Ensembl chr13:48,488,963...48,533,256
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,764
JBrowse link
G SCEL sciellin IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,535,706...77,645,263
Ensembl chr13:77,535,674...77,645,263
JBrowse link
G SCEL-AS1 SCEL antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,599,755...77,606,551
Ensembl chr13:77,599,755...77,606,551
JBrowse link
G SERPINE3 serpin family E member 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,339,691...51,364,735
Ensembl chr13:51,335,773...51,364,735
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,444,274...49,495,003
Ensembl chr13:49,444,274...49,495,003
JBrowse link
G SETDB2-PHF11 SETDB2-PHF11 readthrough IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,444,274...49,528,976 JBrowse link
G SLAIN1 SLAIN motif family member 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,697,687...77,764,229
Ensembl chr13:77,697,687...77,764,242
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:83,877,205...83,882,474
Ensembl chr13:83,877,205...83,882,474
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683
JBrowse link
G SNORA107 small nucleolar RNA, H/ACA box 107 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,783,654...84,783,778 JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SPRYD7 SPRY domain containing 7 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,912,702...49,936,340
Ensembl chr13:49,912,702...49,936,490
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
JBrowse link
G SUCLA2-AS1 SUCLA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,389...48,002,614
Ensembl chr13:48,001,389...48,002,552
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,652,836...52,700,909
Ensembl chr13:52,652,709...52,700,909
JBrowse link
G SUGT1-DT SUGT1 divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,651,305...52,652,307
Ensembl chr13:52,651,305...52,652,337
JBrowse link
G TBC1D4 TBC1 domain family member 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,169
JBrowse link
G TDRD3 tudor domain containing 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,395,533...60,573,879
Ensembl chr13:60,396,457...60,573,878
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
G TMEM272 transmembrane protein 272 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,813,347...51,934,366
Ensembl chr13:51,813,347...51,845,177
JBrowse link
G TRIM13 tripartite motif containing 13 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,997,042...50,018,467
Ensembl chr13:49,995,888...50,020,481
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,549,502...75,606,020
Ensembl chr13:75,549,483...75,606,020
JBrowse link
G UTP14C UTP14C small subunit processome component IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,024,691...52,033,600
Ensembl chr13:52,024,691...52,033,600
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,412,606...52,450,634
Ensembl chr13:52,412,602...52,450,634
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,584,462...51,767,709
Ensembl chr13:51,584,455...51,767,709
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
ClinVar Annotator: match by term: Craniopharyngioma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha disease_progression IEP RGD PMID:20190664 RGD:11080971 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Rathke's pouch tumor ClinVar PMID:25741868 PMID:28492532 PMID:29641532 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 IAGP ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G CTCF CCCTC-binding factor IAGP ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSRR insulin receptor related receptor IAGP ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117
JBrowse link
G LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:24033266 PMID:25741868 NCBI chr10:43,072,914...43,077,291 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More... NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G PRLR prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487
JBrowse link
G RET ret proto-oncogene susceptibility IAGP
EXP
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 IAGP DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma
ClinVar
RGD
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... RGD:8547984 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF1R insulin like growth factor 1 receptor IEP mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G MEN1 menin 1 IAGP
EXP
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:15944766 RGD:2317354 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity IEP associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) RGD PMID:12114431 RGD:2317605 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G SLC2A2 solute carrier family 2 member 2 IEP mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324977, RGD:2324976 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
Gastro-Enteropancreatic Neuroendocrine Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase disease_progression IEP associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) RGD PMID:22485171 RGD:150340716 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G ATRX ATRX chromatin remodeler severity IEP RGD PMID:26026117 RGD:127285385 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CD53 CD53 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:110,871,210...110,899,922
Ensembl chr 1:110,871,188...110,899,922
JBrowse link
G CD86 CD86 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CIITA class II major histocompatibility complex transactivator EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 severity IEP protein:increased expression:colon (human) RGD PMID:26259237 RGD:11530617 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G DAXX death domain associated protein severity IEP RGD PMID:26026117 RGD:127285385 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G EOMES eomesodermin EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:27,715,953...27,722,713
Ensembl chr 3:27,715,949...27,722,711
JBrowse link
G GATA3 GATA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G IKZF1 IKAROS family zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IKZF3 IKAROS family zinc finger 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,718...39,864,312
JBrowse link
G IL10 interleukin 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL2RB interleukin 2 receptor subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
JBrowse link
G NOTCH2 notch receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G POU2F2 POU class 2 homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr19:42,086,110...42,197,936
Ensembl chr19:42,086,110...42,196,585
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476
JBrowse link
G RUNX3 RUNX family transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTC betacellulin IEP protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr 4:74,744,759...74,794,523
Ensembl chr 4:74,744,759...74,794,523
JBrowse link
G MEN1 menin 1 ISO
EXP
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G SLC2A2 solute carrier family 2 member 2 IEP mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324977, RGD:2324976 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
G SSTR4 somatostatin receptor 4 IEP RGD PMID:8132773 RGD:2324994 NCBI chr20:23,035,312...23,039,237
Ensembl chr20:23,035,312...23,039,237
JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
Intestinal Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAP1L1 nucleosome assembly protein 1 like 1 IEP mRNA:increased expression:intestinal mucosa (human) RGD PMID:16424981 RGD:9590082 NCBI chr12:76,036,585...76,084,685
Ensembl chr12:76,036,585...76,084,735
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Carcinoid tumors, intestinal ClinVar PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
islet cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler disease_progression IEP protein:decreased expression:pancreas: RGD PMID:24148618 RGD:9586032 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CDK4 cyclin dependent kinase 4 IEP protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G DAXX death domain associated protein disease_progression IAGP RGD PMID:21252315 RGD:9587819 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL139022.1 novel transcript, antisense to MAX IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:25741868 PMID:26070438 PMID:27838885 More... NCBI chr14:65,089,918...65,094,311
Ensembl chr14:65,082,034...65,094,212
JBrowse link
G CHURC1-FNTB CHURC1-FNTB readthrough IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 NCBI chr14:64,914,361...65,062,655
Ensembl chr14:64,986,895...65,062,652
Ensembl chr14:64,986,895...65,062,652
JBrowse link
G FNTB farnesyltransferase, CAAX box, subunit beta IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 NCBI chr14:64,986,895...65,062,650
Ensembl chr14:64,986,895...65,062,652
JBrowse link
G LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:24033266 PMID:25741868 NCBI chr10:43,072,914...43,077,291 JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G LOC126861339 BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 More... NCBI chr11:112,086,311...112,087,510 JBrowse link
G LOC126861966 MED14-independent group 3 enhancer GRCh37_chr14:65471811-65473010 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 NCBI chr14:65,005,093...65,006,292 JBrowse link
G LOC129929542 ATAC-STARR-seq lymphoblastoid active region 277 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:16317055 PMID:16472267 PMID:16912137 PMID:17376234 PMID:17667967 More...
G LOC129934333 ATAC-STARR-seq lymphoblastoid silent region 11759 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:20154675 PMID:20923864 PMID:21156949 PMID:22541004 PMID:25741868 More...
G LOC130055850 ATAC-STARR-seq lymphoblastoid silent region 5847 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:22452945 PMID:25741868 PMID:26070438 PMID:28492532 PMID:34130653 NCBI chr14:65,102,102...65,102,451 JBrowse link
G MAX MYC associated factor X IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More... NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7704557 PMID:7824936 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,733
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22703879 PMID:23342407 More... NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,265,997
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Lung Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler disease_progression IEP protein:decreased expression:nucleus, lung RGD PMID:31499081 RGD:127285379 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G COL4A3 collagen type IV alpha 3 chain severity IEP mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G CREB5 cAMP responsive element binding protein 5 severity IEP mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 7:28,299,321...28,825,894
Ensembl chr 7:28,299,321...28,825,894
JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Lung carcinoid tumor ClinVar PMID:9215689 PMID:9361035 PMID:9463336 PMID:11303512 PMID:11579199 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B severity IEP mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
JBrowse link
lung oat cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:26619011 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More... NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
lung small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1B activin A receptor type 1B IAGP RGD PMID:33880365 RGD:151665493 NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078
JBrowse link
G ADCY1 adenylate cyclase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:45,574,140...45,723,116
Ensembl chr 7:45,574,140...45,723,116
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G APOA1 apolipoprotein A1 treatment IEP RGD PMID:26996551 RGD:11561502 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOC3 apolipoprotein C3 treatment IEP RGD PMID:26996551 RGD:11561502 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G ASCL1 achaete-scute family bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26253517 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513
JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP DNA:SNP:intron:(rs227060) (human) RGD PMID:28642860 RGD:150383339 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression IEP
IAGP
RGD PMID:31374064 PMID:29748005 RGD:127285382, RGD:127285383 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G AVP arginine vasopressin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2832203 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G AXIN2 axin 2 disease_progression IAGP DNA:SNP::1386 C>T(human) RGD PMID:30346805 RGD:151356655 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar PMID:26619011 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BCL2 BCL2 apoptosis regulator susceptibility IAGP DNA:SNP: :rs2279115(human) RGD PMID:26311051 RGD:13673911 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851
JBrowse link
G CCND1 cyclin D1 disease_progression IAGP DNA:snp:exon:c.870G>A (human) RGD PMID:29739297 RGD:13673912 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IEP protein:increased expression:lung RGD PMID:9500468 RGD:13673920 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDYL chromodomain Y like EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:4,706,138...4,955,544
Ensembl chr 6:4,706,159...4,955,551
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit susceptibility IEP
IAGP
mRNA:increased expression:lung
DNA:SNP:cds:rs8040868(human)
RGD PMID:20124469 PMID:22280835 RGD:150527851, RGD:151347453 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295
JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit IEP mRNA:increased expression:lung RGD PMID:20124469 RGD:150527851 NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit susceptibility IAGP DNA:SNPs:multiples: RGD PMID:22280835 RGD:151347453 NCBI chr 4:40,335,333...40,355,217
Ensembl chr 4:40,335,333...40,355,217
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit IEP mRNA:increased expression:lung RGD PMID:20124469 RGD:150527851 NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754
JBrowse link
G CKB creatine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:2828370 NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833
JBrowse link
G CNTNAP2 contactin associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:138,588,235...138,914,041
Ensembl chr 8:138,588,235...138,914,041
JBrowse link
G COL4A2 collagen type IV alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G CREBBP CREB binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSF1R colony stimulating factor 1 receptor exacerbates IEP protein:increased expression:lung (human) RGD PMID:1390197 RGD:150524305 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:9093707 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:CDS: (rs6068816) (human) RGD PMID:31264381 RGD:151665340 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
JBrowse link
G DIP2C disco interacting protein 2 homolog C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr10:274,201...689,668
Ensembl chr10:274,201...689,668
JBrowse link
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:33628824 RGD:155663482 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility IAGP DNA:SNPs:promoter:-283T >C,-579G>T(human) RGD PMID:15528220 RGD:9589086 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G E2F1 E2F transcription factor 1 disease_progression
treatment
IEP
IMP
mRNA, protein:increased expression:lung RGD PMID:24755270 PMID:11313916 PMID:23792570 RGD:13464335, RGD:13464344, RGD:13464337 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IEP protein:increased expression:lung (human) RGD PMID:24589652 RGD:153297816 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20837450 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ELAVL2 ELAV like RNA binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:23,690,104...23,850,601
Ensembl chr 9:23,690,104...23,826,337
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPHA7 EPH receptor A7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 6:93,240,020...93,419,559
Ensembl chr 6:93,240,020...93,419,687
JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP DNA:mutations:multiple (human) RGD PMID:31199602 RGD:150429733 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXA1 forkhead box A1 disease_progression IEP RGD PMID:22383183 RGD:151665760 NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
JBrowse link
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:36,795,527...37,034,515
Ensembl chr 1:36,795,527...37,034,515
JBrowse link
G GRM8 glutamate metabotropic receptor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:126,438,598...127,252,941
Ensembl chr 7:126,438,598...127,253,093
JBrowse link
G GRP gastrin releasing peptide disease_progression IEP protein:increased expression:serum (human) RGD PMID:30146822 RGD:401700396 NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774
JBrowse link
G ID2 inhibitor of DNA binding 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 2:8,682,056...8,684,461
Ensembl chr 2:8,678,845...8,684,461
JBrowse link
G INSM1 INSM transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr20:20,368,104...20,370,949
Ensembl chr20:20,368,104...20,370,949
JBrowse link
G ITGB1 integrin subunit beta 1 disease_progression
treatment
IEP RGD PMID:21063403 PMID:12168902 RGD:13792831, RGD:13792832 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
JBrowse link
G KDM6A lysine demethylase 6A IAGP DNA:mutations:multiple: (human) RGD PMID:31199602 RGD:150429733 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KHSRP KH-type splicing regulatory protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr19:6,413,102...6,424,811
Ensembl chr19:6,413,102...6,424,811
JBrowse link
G KIF21A kinesin family member 21A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15499612 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KMT2A lysine methyltransferase 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G KMT2D lysine methyltransferase 2D disease_progression IAGP DNA:missense mutations, insertion/deletion:plasma RGD PMID:28007623 PMID:29748005 PMID:27873319 PMID:29627316 RGD:150523766, RGD:127285383, RGD:150523768, RGD:150523767 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LYRM9 LYR motif containing 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:27,878,358...27,893,365
Ensembl chr17:27,878,314...27,894,752
JBrowse link
G MAX MYC associated factor X IAGP DNA:loss of heterozygosity:lung RGD PMID:24362264 RGD:13793386 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP protein:missense mutation:cds:p.A222V (human) RGD PMID:17533396 RGD:4891158 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTOR mechanistic target of rapamycin kinase disease_progression IAGP DNA:SNP: :rs2536(human) RGD PMID:28280736 RGD:13825123 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:28089889 RGD:13793389 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: therapeutic CTD PMID:22941189 NCBI chr 1:39,895,428...39,901,917
Ensembl chr 1:39,895,428...39,902,256
JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
JBrowse link
G NOTCH1 notch receptor 1 treatment ISO RGD PMID:33628824 RGD:155663482 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PBRM1 polybromo 1 disease_progression IAGP RGD PMID:29748005 RGD:127285383 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 disease_progression IAGP DNA:SNPs: :rs3756668,rs12755(human) RGD PMID:28280736 RGD:13825123 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PLSCR4 phospholipid scramblase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 3:146,192,335...146,251,105
Ensembl chr 3:146,192,335...146,251,179
JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression IEP
IAGP
DNA:CNV:: RGD PMID:21800286 PMID:20802517 RGD:13825133, RGD:13825141 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility
treatment
IAGP DNA:SNP:3'utr: (rs7963551) (human)
DNA:SNP: (rs10774474)(human)
RGD PMID:26629180 PMID:27531263 RGD:151660337, RGD:151660339 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053
JBrowse link
G RARB retinoic acid receptor beta IAGP DNA:methylation: : RGD PMID:29851970 RGD:13825142 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
JBrowse link
G RASSF8 Ras association domain family member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr12:25,958,232...26,079,889
Ensembl chr12:25,958,232...26,079,892
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP
EXP
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 More... NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 severity IEP
IAGP
associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human)
DNA:CNV, amplification:exon (human)
RGD PMID:31454632 PMID:27863413 RGD:152995447, RGD:152995517 NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402
JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:103,500,610...104,256,094
Ensembl chr 8:103,500,610...104,254,430
JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:91,954,967...92,103,385
Ensembl chr 8:91,954,972...92,103,385
JBrowse link
G SATB2 SATB homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SKP2 S-phase kinase associated protein 2 IEP mRNA:increased expression:lung: RGD PMID:12107105 RGD:13825152 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G SLIT2 slit guidance ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26343384 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SOX2 SRY-box transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G TMEM132D transmembrane protein 132D EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr12:129,071,726...129,904,025
Ensembl chr12:129,071,725...129,904,025
JBrowse link
G TP53 tumor protein p53 IAGP
EXP
ClinVar Annotator: match by term: Small cell lung cancer
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP73 tumor protein p73 IAGP DNA:mutations:multiple: (human) RGD PMID:26168399 RGD:151347582 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G TTR transthyretin HEP protein:increased expression:lung (human) RGD PMID:26943652 RGD:151665207 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G XPO5 exportin 5 severity IAGP DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) RGD PMID:24648983 RGD:11041738 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038
JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427
JBrowse link
malignant peripheral nerve sheath tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM4B lysine demethylase 4B IAGP DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598
JBrowse link
Medullary Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPGD 15-hydroxyprostaglandin dehydrogenase EXP CTD Direct Evidence: therapeutic CTD PMID:11352223 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G RET ret proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:7915165 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK3 ankyrin 3 IAGP ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP
EXP
associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO
IAGP
EXP
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... RGD:11038793 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRD2 bromodomain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G BRD3 bromodomain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535
JBrowse link
G BRD4 bromodomain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCNE1 cyclin E1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression EXP
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
JBrowse link
G CDK9 cyclin dependent kinase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:26822237 PMID:27058758 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472
JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ESR2 estrogen receptor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FOXO3 forkhead box O3 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP DNA:deletion: : RGD PMID:18952980 RGD:5490237
G HIC1 HIC ZBTB transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IRS2 insulin receptor substrate 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G KAT6A lysine acetyltransferase 6A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KDM4B lysine demethylase 4B IEP
EXP
mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598
JBrowse link
G KDM4C lysine demethylase 4C IEP
EXP
mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,757,641...7,175,648
JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr22:41,205,312...41,231,271
Ensembl chr22:41,205,282...41,231,271
JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:130,018,581...130,141,438
Ensembl chr 6:130,013,699...130,141,449
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar PMID:12068298 PMID:19833601 PMID:22508808 PMID:24651015 PMID:25403219 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:39,895,428...39,901,917
Ensembl chr 1:39,895,428...39,902,256
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP
EXP
ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19270706 PMID:26619011 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
G NONO non-POU domain containing octamer binding IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G OTX2 orthodenticle homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity EXP
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRMT5 protein arginine methyltransferase 5 EXP CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408
JBrowse link
G PTCH1 patched 1 EXP
IAGP
ISS
ISO
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
CTD
ClinVar
MouseDO
RGD
PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 More... RGD:150523834 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G RASSF1 Ras association domain family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO
IAGP
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G S100A10 S100 calcium binding protein A10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:151,982,915...151,993,859
Ensembl chr 1:151,982,915...151,993,859
JBrowse link
G S100A4 S100 calcium binding protein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136
JBrowse link
G S100A6 S100 calcium binding protein A6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 1:153,534,599...153,535,991
Ensembl chr 1:153,534,599...153,536,244
JBrowse link
G SCG5 secretogranin V EXP CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr15:32,641,710...32,697,092
Ensembl chr15:32,641,676...32,697,098
JBrowse link
G SCML2 Scm polycomb group protein like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:18,239,313...18,355,118
Ensembl chr  X:18,239,313...18,354,688
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SKP2 S-phase kinase associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMO smoothened, frizzled class receptor treatment IAGP
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SMYD4 SET and MYND domain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:1,779,485...1,829,902
Ensembl chr17:1,779,485...1,830,634
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STRADA STE20 related adaptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP
EXP
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain (rat)
ClinVar
OMIM
CTD
RGD
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:1599191, RGD:150573693 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TP53 tumor protein p53 disease_progression ISO
IAGP
IEP
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
protein:increased expression:nucleus:
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:1302544, RGD:8547823 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TSC2 TSC complex subunit 2 IAGP DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr19:6,772,708...6,857,361
Ensembl chr19:6,772,708...6,857,366
JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar
PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome ClinVar PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD68 CD68 molecule IEP protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IEP mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G SPA17 sperm autoantigenic protein 17 IEP mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr11:124,673,904...124,697,518
Ensembl chr11:124,673,844...124,697,518
JBrowse link
neurilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATAD5 ATPase family AAA domain containing 5 IEP mRNA:increased expression:neural tissue (human) RGD PMID:20844836 RGD:11552594 NCBI chr17:30,831,966...30,895,869
Ensembl chr17:30,831,966...30,895,869
JBrowse link
G AXL AXL receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP DNA,protein:deletion,decreased expression: : RGD PMID:10595918 RGD:1358481 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G EED embryonic ectoderm development EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813
JBrowse link
G KDR kinase insert domain receptor IEP mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP DNA:missense mutation:cds,multiple (human) RGD PMID:24362817 RGD:151676717 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G NF1 neurofibromin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP DNA:loss of heterozygosity RGD PMID:7669741 RGD:150530508 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity IEP protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G SERPINE1 serpin family E member 1 IEP mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SIX1 SIX homeobox 1 IEP mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Schwannoma ClinVar PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 More... NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G WT1 WT1 transcription factor EXP CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ALK ALK receptor tyrosine kinase IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: Neuroblastoma Susceptibility
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein IEP mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP
EXP
DNA:mutations,loss of heterozygosity: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP
EXP
DNA:deletion,haploinsufficiency: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ATRX ATRX chromatin remodeler EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G AURKA aurora kinase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337
JBrowse link
G BARD1 BRCA1 associated RING domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683
JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CD44 CD44 molecule (IN blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:10850450 RGD:2326181 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A treatment IDA
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15814359 PMID:24714808 RGD:10043806 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A disease_progression IEP
IMP
mRNA:increased expression: : RGD PMID:24335960 PMID:24335960 RGD:9587458, RGD:9587458 NCBI chr19:4,402,640...4,450,830
Ensembl chr19:4,402,640...4,445,018
JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
JBrowse link
G CHEK2 checkpoint kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G DBH dopamine beta-hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DOCK8 dedicator of cytokinesis 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GATA3 GATA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941191 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229
JBrowse link
G HGF hepatocyte growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFNB1 interferon beta 1 EXP CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
G IGF1R insulin like growth factor 1 receptor IMP protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
JBrowse link
G IL18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G ISL1 ISL LIM homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
JBrowse link
G KIF1B kinesin family member 1B susceptibility IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More... NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LIN28B lin-28 homolog B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22941191 PMID:23042116 NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332
JBrowse link
G LOC112577475 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110883828-110884393 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 1:110,341,206...110,341,771 JBrowse link
G LOC126805614 BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:10,325,488...10,326,687 JBrowse link
G LOC129388447 MPRA-validated peak65 silencer IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:28492532 NCBI chr 1:10,261,817...10,262,017 JBrowse link
G LOC129929363 ATAC-STARR-seq lymphoblastoid silent region 243 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar
G LOC129929365 ATAC-STARR-seq lymphoblastoid silent region 244 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478
JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16051641 PMID:26822237 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II EXP CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
JBrowse link
G MTFP1 mitochondrial fission process 1 severity IEP mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr22:30,425,768...30,429,054
Ensembl chr22:30,425,623...30,429,054
JBrowse link
G MYB MYB proto-oncogene, transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 6:135,181,308...135,219,172
Ensembl chr 6:135,181,308...135,219,173
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More... NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26619011 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 IAGP RGD PMID:8047138 RGD:1600229 NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428
JBrowse link
G NNAT neuronatin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr20:37,521,250...37,523,690
Ensembl chr20:37,521,206...37,523,690
JBrowse link
G NODAL nodal growth differentiation factor IEP mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NRAS NRAS proto-oncogene, GTPase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 severity IAGP DNA:hypermethylation:promoter:CpG islands (human) RGD PMID:20018718 RGD:9590155 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NT5E 5'-nucleotidase ecto EXP CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 disease_progression IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16051641 PMID:26822237 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G PAK4 p21 (RAC1) activated kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr19:39,125,786...39,182,816
Ensembl chr19:39,125,770...39,182,816
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IDA human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791
JBrowse link
G PHOX2B paired like homeobox 2B exacerbates EXP
IAGP
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
human cell line in a mouse model
CTD
ClinVar
RGD
PMID:25174395 PMID:30127528 PMID:26840262 RGD:151667442 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PINK1 PTEN induced kinase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:23334666 PMID:25741868 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
JBrowse link
G PINK1-AS PINK1 antisense RNA IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity IEP mRNA:increased expression:neural tissue (human) RGD PMID:15240516 RGD:11535044 NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PSMD14 proteasome 26S subunit, non-ATPase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 2:161,308,425...161,411,717
Ensembl chr 2:161,308,425...161,411,717
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP
EXP
ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
JBrowse link
G RASSF1 Ras association domain family member 1 TAS RGD PMID:12222680 PMID:17325427 RGD:2291977, RGD:2291979 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RASSF5 Ras association domain family member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr 1:206,507,531...206,589,448
Ensembl chr 1:206,507,531...206,589,448
JBrowse link
G RBM15 RNA binding motif protein 15 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 1:110,339,377...110,346,677
Ensembl chr 1:110,338,506...110,346,681
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha disease_progression IEP Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SEMA3B semaphorin 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity IEP mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
JBrowse link
G TBX2 T-box transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TH tyrosine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFSF10 TNF superfamily member 10 EXP CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
JBrowse link
G TP53 tumor protein p53 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP73 tumor protein p73 no_association IAGP RGD PMID:9288759 RGD:1599583 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G YAP1 Yes1 associated transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
JBrowse link
G ZNF276 zinc finger protein 276 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr16:89,720,368...89,740,925
Ensembl chr16:89,720,400...89,740,925
JBrowse link
Neuroblastoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110011216 paired like homeobox 2b polyalanine repeat instability region IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar PMID:16830328 PMID:18079495 PMID:20208042 PMID:24033266 PMID:25741868 More... NCBI chr 4:41,745,975...41,746,028 JBrowse link
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar
OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
G PHOX2B-AS1 PHOX2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar Annotator: match by term: Neuroblastoma 2
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
ClinVar PMID:16199547 PMID:24033266 PMID:25156769 PMID:25741868 PMID:28492532 More... NCBI chr 4:41,748,349...41,796,437
Ensembl chr 4:41,748,293...41,824,119
JBrowse link
Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase susceptibility IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar Annotator: match by term: Neuroblastoma 3
ClinVar
OMIM
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G CLIP4 CAP-Gly domain containing linker protein family member 4 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,097,726...29,183,808
Ensembl chr 2:29,097,705...29,199,777
JBrowse link
G LOC105374389 uncharacterized LOC105374389 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,474,734...29,475,377 JBrowse link
G LOC122756683 Sharpr-MPRA regulatory region 127 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:25640679 PMID:28492532 NCBI chr 2:29,374,823...29,375,117 JBrowse link
G LOC122756684 Sharpr-MPRA regulatory region 9206 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,522,283...29,522,577 JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230
JBrowse link
G WDR43 WD repeat domain 43 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:28,894,667...28,948,219
Ensembl chr 2:28,894,667...28,948,219
JBrowse link
neuroendocrine carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENO2 enolase 2 IEP RGD PMID:15010880 RGD:2293735 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
neuroendocrine tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler EXP CTD Direct Evidence: marker/mechanism CTD PMID:21252315 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17341847 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CALR calreticulin exacerbates IMP human cells and recombinant protein in a mouse model RGD PMID:16293970 RGD:150521697 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroendocrine neoplasm
CTD
ClinVar
PMID:24185511 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G DAXX death domain associated protein severity IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21252315 PMID:23954140 RGD:9587816 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G MEN1 menin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21252315 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:17625444 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G SSTR1 somatostatin receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17625444 NCBI chr14:38,207,904...38,213,067
Ensembl chr14:38,207,904...38,213,067
JBrowse link
G SSTR2 somatostatin receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17625444 NCBI chr17:73,165,010...73,176,633
Ensembl chr17:73,165,010...73,176,633
JBrowse link
G SSTR3 somatostatin receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17625444 NCBI chr22:37,204,237...37,220,548
Ensembl chr22:37,204,237...37,212,477
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18281538 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
non-functioning pancreatic endocrine tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A exacerbates HEP protein:decreased expression:endocrine pancreas (human) RGD PMID:32282764 RGD:126790640 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G CDK4 cyclin dependent kinase 4 IEP associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) RGD PMID:29149451 RGD:13781946 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDK6 cyclin dependent kinase 6 IEP associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) RGD PMID:29149451 RGD:13781946 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1A hypoxia inducible factor 1 subunit alpha severity IEP protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
pancreatic endocrine carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CUX1 cut like homeobox 1 exacerbates HEP protein:increased expression:pancreas (human) RGD PMID:32707646 RGD:153297777 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
JBrowse link
G DAXX death domain associated protein disease_progression IAGP DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) RGD PMID:29212165 RGD:152025205 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:14501508 RGD:2317661 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PGF placental growth factor disease_progression
treatment
IEP
IMP
protein:increased expression:serum (human)
human cells in a mouse model
RGD PMID:23463017 PMID:26861455 RGD:14349029, RGD:14349030 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
PERITONEAL GLIOMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD36C ankyrin repeat domain 36C IAGP ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 2:95,848,932...95,991,824
Ensembl chr 2:95,836,919...95,991,831
JBrowse link
G FCGR1A Fc gamma receptor Ia IAGP ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675
JBrowse link
G H2BC18 H2B clustered histone 18 IAGP ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 1:149,782,689...149,812,370
Ensembl chr 1:149,782,689...149,812,373
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
Primitive Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EWSR1 EWS RNA binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12162413 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G HES1 hes family bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
JBrowse link
G NOTCH2 notch receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component EXP CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Primitive neuroectodermal tumor ClinVar PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 More... NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
Primitive Peripheral Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15618851 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CADM2 cell adhesion molecule 2 IEP mRNA, protein:decreased expression:retina RGD PMID:30320366 RGD:15092072 NCBI chr 3:84,958,989...86,074,429
Ensembl chr 3:84,958,989...86,074,429
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G DICER1 dicer 1, ribonuclease III exacerbates ISO DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G IFNB1 interferon beta 1 ameliorates IMP RGD PMID:19306089 RGD:401854248 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G KDM1B lysine demethylase 1B IEP mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr 6:18,155,422...18,223,854
Ensembl chr 6:18,155,329...18,223,854
JBrowse link
G LOC124885096 Sharpr-MPRA regulatory region 1366 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,199,453...48,199,747 JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,233,452...48,233,661 JBrowse link
G LOC130009753 ATAC-STARR-seq lymphoblastoid active region 7725 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr13:48,287,247...48,287,306 JBrowse link
G LOC130009754 ATAC-STARR-seq lymphoblastoid active region 7726 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 More... NCBI chr13:48,304,403...48,304,452 JBrowse link
G LOC130009755 ATAC-STARR-seq lymphoblastoid active region 7727 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 More... NCBI chr13:48,304,693...48,304,762 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 More... NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
JBrowse link
G MAX MYC associated factor X IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MED4 mediator complex subunit 4 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression IAGP DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More... NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NUDT15 nudix hydrolase 15 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP
EXP
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Retinoblastoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eye cancer, retinoblastoma
ClinVar
CTD
OMIM
RGD
PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More... RGD:8547986 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RB1-DT RB1 divergent transcript IAGP ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:1881452 PMID:8049153 PMID:12541220 PMID:25741868 PMID:28492532 More... NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,296,162...48,303,720
JBrowse link
G SERPINF1 serpin family F member 1 treatment IDA human protein and tumor xenograft in a mouse model RGD PMID:19832843 RGD:8554870 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SNCG synuclein gamma IEP RGD PMID:18728752 RGD:6218971 NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
JBrowse link
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)
CTD
ClinVar
RGD
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... RGD:151708709, RGD:151708708, RGD:151708704 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)
CTD
ClinVar
RGD
PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More... RGD:155804288, RGD:151708708, RGD:151708704 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by term: Schwannomatosis 1, somatic
ClinVar
OMIM
PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130067016 ATAC-STARR-seq lymphoblastoid silent region 13504 IAGP ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr22:20,982,365...20,982,494 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 susceptibility IAGP ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
thyroid gland medullary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Medullary thyroid gland carcinoma ClinVar PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G RET ret proto-oncogene EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma
ClinVar Annotator: match by term: Medullary thyroid gland carcinoma
CTD
ClinVar
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
trilateral retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Trilateral retinoblastoma ClinVar PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More... NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583
JBrowse link
G ASCC2 activating signal cointegrator 1 complex subunit 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,788,611...29,838,274
Ensembl chr22:29,788,609...29,838,304
JBrowse link
G C22orf31 chromosome 22 open reading frame 31 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,058,672...29,073,943
Ensembl chr22:29,058,672...29,061,831
JBrowse link
G CABP7 calcium binding protein 7 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,720,003...29,731,833
Ensembl chr22:29,720,003...29,731,833
JBrowse link
G CCDC117 coiled-coil domain containing 117 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:28,772,695...28,789,301
Ensembl chr22:28,772,674...28,789,301
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G EMID1 EMI domain containing 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,205,896...29,259,597
Ensembl chr22:29,205,896...29,259,597
JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G GAS2L1 growth arrest specific 2 like 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,306,650...29,312,787
Ensembl chr22:29,306,618...29,312,787
JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:28,742,032...28,757,510
Ensembl chr22:28,742,039...28,757,515
JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333
JBrowse link
G LOC130067183 ATAC-STARR-seq lymphoblastoid active region 18817 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:28492532 NCBI chr22:29,603,019...29,603,148 JBrowse link
G LOC130067184 ATAC-STARR-seq lymphoblastoid silent region 13595 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:28492532 NCBI chr22:29,603,399...29,603,978 JBrowse link
G MTMR3 myotubularin related protein 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,883,174...30,030,868
Ensembl chr22:29,883,169...30,030,868
JBrowse link
G NEFH neurofilament heavy chain IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP
ISS
EXP
ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... RGD:151708708, RGD:151708704 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G NIPSNAP1 nipsnap homolog 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,554,808...29,581,113
Ensembl chr22:29,554,808...29,581,327
JBrowse link
G RASL10A RAS like family 10 member A IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,312,933...29,319,859
Ensembl chr22:29,312,933...29,319,679
JBrowse link
G RFPL1 ret finger protein like 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,387,909...29,442,455
Ensembl chr22:29,438,583...29,442,455
JBrowse link
G RFPL1S RFPL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,437,015...29,442,129
Ensembl chr22:29,436,534...29,478,868
JBrowse link
G RHBDD3 rhomboid domain containing 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,259,852...29,268,163
Ensembl chr22:29,259,872...29,268,209
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G THOC5 THO complex subunit 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,505,879...29,553,757
Ensembl chr22:29,505,879...29,555,216
JBrowse link
G UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,767,369...29,770,413
Ensembl chr22:29,767,369...29,770,413
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IMP
RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XBP1 X-box binding protein 1 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
JBrowse link
G ZMAT5 zinc finger matrin-type 5 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:29,730,956...29,767,007
Ensembl chr22:29,730,956...29,767,011
JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488
JBrowse link
vipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA1 interferon alpha 1 EXP CTD Direct Evidence: therapeutic CTD PMID:17961653 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G MEN1 menin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17961653 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G SST somatostatin EXP CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      Neoplasms by Histologic Type 6406
        Germ Cell and Embryonal Neoplasms 1029
          neuroectodermal tumor 930
            astroblastoma + 733
            craniopharyngioma + 10
            melanotic neuroectodermal tumor 0
            neuroendocrine tumor + 236
Path 2
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      cancer 6692
        organ system cancer 6443
          nervous system cancer 1457
            neuroectodermal tumor 930
              astroblastoma + 733
              craniopharyngioma + 10
              melanotic neuroectodermal tumor 0
              neuroendocrine tumor + 236
paths to the root