RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | Nerve Tissue Neoplasms |
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Accession: | DOID:9002573
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browse the term
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Definition: | Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. |
Synonyms: | exact_synonym: | Nerve Tissue Neoplasm; Nervous Tissue Neoplasm; Nervous Tissue Neoplasms |
| primary_id: | MESH:D009380 |
| alt_id: | RDO:0006101 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Eno2 |
enolase 2 |
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IEP |
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RGD |
PMID:17537454 |
RGD:2293746 |
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 Ensembl chr 9:157,285,179...157,294,047
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Artn |
artemin |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
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Bdnf |
brain-derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Cav1 |
caveolin 1 |
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ISO |
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RGD |
PMID:20881564 |
RGD:8661782 |
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
mRNA,protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:missense mutation:cds:p.D312N (rs1799793) (human) |
RGD |
PMID:20150366 |
RGD:5688735 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Fgfr1 |
Fibroblast growth factor receptor 1 |
disease_progression |
ISO |
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RGD |
PMID:15354013 |
RGD:11567268 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igfbp3 |
insulin-like growth factor binding protein 3 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Nf2 |
neurofibromin 2 |
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ISO |
protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:14660915 |
RGD:8547959 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Mki67 |
marker of proliferation Ki-67 |
severity |
ISO |
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RGD |
PMID:21696422 |
RGD:6483520 |
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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Ifnb1 |
interferon beta 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15990972 |
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NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Neuroepithelial neoplasm |
ClinVar |
PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Mir542 |
microRNA 542 |
disease_progression |
ISO |
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RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:158,152,146...158,152,224
Ensembl chr X:158,152,146...158,152,224
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
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RGD |
PMID:26956052, PMID:26286747 |
RGD:11343921, RGD:13782052 |
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Alb |
albumin |
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ISO |
protein:decreased expression:serum: |
RGD |
PMID:975003 |
RGD:11036087 |
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Eno2 |
enolase 2 |
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ISO |
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RGD |
PMID:17345775 |
RGD:2293739 |
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047 Ensembl chr 9:157,285,179...157,294,047
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Men1 |
menin 1 |
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ISO |
DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) |
RGD |
PMID:16465412 |
RGD:2317351 |
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:12584572 |
RGD:2317635 |
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
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Mir10a |
microRNA 10a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr10:84,165,950...84,166,059
Ensembl chr10:84,165,950...84,166,059
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Mir127 |
microRNA 127 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
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Mir136 |
microRNA 136 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,716,761...133,716,842
Ensembl chr 6:133,716,761...133,716,842
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Mir146a |
microRNA 146a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
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Mir154 |
microRNA 154 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
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Mir155 |
microRNA 155 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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Mir193a |
microRNA 193a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr10:67,065,885...67,065,996
Ensembl chr10:67,065,885...67,065,996
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Mir222 |
microRNA 222 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr X:3,683,919...3,684,021
Ensembl chr X:3,683,919...3,684,021
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Mir224 |
microRNA 224 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr X:152,223,754...152,223,835
Ensembl chr X:152,223,754...152,223,835
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Mir30a |
microRNA 30a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
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Mir34b |
microRNA 34b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
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Mir34c |
microRNA 34c |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
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Mir370 |
microRNA 370 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,739,916...133,739,994
Ensembl chr 6:133,739,916...133,739,994
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Mir409 |
microRNA 409 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,893,419...133,893,495
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Mir410 |
microRNA 410 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
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Mir487b |
microRNA 487b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,877,124...133,877,205
Ensembl chr 6:133,877,124...133,877,205
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Mir494 |
microRNA 494 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:133,864,370...133,864,452
Ensembl chr 6:133,864,369...133,864,453
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Reg1a |
regenerating family member 1 alpha |
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ISO |
associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:10348814 |
RGD:9850135 |
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
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Dhfr |
dihydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
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NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
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Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
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NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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Msh3 |
mutS homolog 3 |
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ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
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NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
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Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
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Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
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Arl11 |
ADP-ribosylation factor like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
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Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
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Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
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Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
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Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
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Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:93,634,815...93,644,146
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Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
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Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
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Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
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Diaph3 |
diaphanous-related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
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Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
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Dleu7 |
deleted in lymphocytic leukemia, 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
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Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
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Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
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Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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Fndc3a |
fibronectin type III domain containing 3a |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
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Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
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Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
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Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,384,632...87,390,627
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Klf12 |
Kruppel-like factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
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Klf5 |
Kruppel-like factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
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Klhl1 |
kelch-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
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Kpna3 |
karyopherin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
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Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
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LOC102554746 |
uncharacterized LOC102554746 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,559,028...45,581,410
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Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
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Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
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Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,405,472...87,450,812 NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
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Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
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Ndfip2 |
Nedd4 family interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
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Nek3 |
NIMA-related kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
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Nek5 |
NIMA-related kinase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
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Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
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Obi1 |
ORC ubiquitin ligase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
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Olfm4 |
olfactomedin 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
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G |
Pcdh17 |
protocadherin 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
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G |
Pcdh20 |
protocadherin 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
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G |
Pcdh8 |
protocadherin 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
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G |
Pcdh9 |
protocadherin 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
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G |
Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
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G |
Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
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Prr20e |
proline rich 20E |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Rbm26 |
RNA binding motif protein 26 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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G |
Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
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G |
Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
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G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103 Ensembl chr15:39,712,861...39,742,103
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G |
Slain1 |
SLAIN motif family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
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G |
Spryd7 |
SPRY domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
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G |
Trim13 |
tripartite motif-containing 13 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
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G |
Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VAN ASPEREN SYNDROME ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 |
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NCBI chr10:67,531,989...67,551,237
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 PMID:9824584 PMID:10083733 PMID:11247896 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413733 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30263132 PMID:30458859 PMID:30765603 |
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NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniopharyngioma |
CTD ClinVar |
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 PMID:26619011 PMID:26822237 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
disease_progression |
ISO |
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RGD |
PMID:20190664 |
RGD:11080971 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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G |
Phox2b |
paired-like homeobox 2b |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 |
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NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:22161988 PMID:25741868 PMID:28492532 |
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NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
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OMIM |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: B-K MOLE SYNDROME |
ClinVar OMIM |
PMID:10201537 PMID:10208439 PMID:25157968 |
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NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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G |
Men1 |
menin 1 |
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ISO |
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : |
RGD |
PMID:17135306 |
RGD:2317341 |
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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G |
Acss1 |
acyl-CoA synthetase short-chain family member 1 |
treatment |
ISO |
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RGD |
PMID:27539851 |
RGD:13831304 |
NCBI chr 3:146,420,346...146,470,293
Ensembl chr 3:146,420,346...146,470,293
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G |
Acss2 |
acyl-CoA synthetase short-chain family member 2 |
treatment |
ISO |
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RGD |
PMID:27539851 |
RGD:13831304 |
NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
treatment |
ISO |
|
RGD |
PMID:19622764, PMID:19609240 |
RGD:9684925, RGD:9684939 |
NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29179997 PMID:29438700 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Calr |
calreticulin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16388313 |
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NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
treatment |
ISO |
|
RGD |
PMID:14500387 |
RGD:7483600 |
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
|
RGD |
PMID:24041689 |
RGD:7411680 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Egr1 |
early growth response 1 |
|
ISO |
mRNA, protein:increased expression:salivary gland (mouse) |
RGD |
PMID:19517020 |
RGD:5131885 |
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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G |
Esr2 |
estrogen receptor 2 |
severity |
ISO |
|
RGD |
PMID:20354658 |
RGD:8694122 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
Hgf |
hepatocyte growth factor |
|
ISO |
|
RGD |
PMID:9823327 |
RGD:8548620 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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G |
Ifnb1 |
interferon beta 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16417267 |
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NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
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ISO |
|
RGD |
PMID:19276165 |
RGD:7495758 |
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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G |
Il18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:12230493, PMID:17411412 |
RGD:8655870, RGD:8655901 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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G |
Il1a |
interleukin 1 alpha |
treatment |
ISO |
|
RGD |
PMID:8061895 |
RGD:7794735 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:1966551 |
RGD:7401226 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:11884028 |
RGD:8662950 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Kdm1a |
lysine demethylase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
|
NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
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G |
Kdm4c |
lysine demethylase 4C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
|
NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
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RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr19:56,215,420...56,219,987
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|
G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:19208793 |
RGD:9589070 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29179997 |
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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|
G |
Pxn |
paxillin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18492274 |
|
NCBI chr12:46,797,953...46,845,107
Ensembl chr12:46,797,954...46,845,080
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|
G |
Tert |
telomerase reverse transcriptase |
treatment |
ISO |
|
RGD |
PMID:19903903 |
RGD:11038656 |
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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|
|
G |
Insrr |
insulin receptor-related receptor |
|
ISO |
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma |
ClinVar |
|
|
NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
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|
G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar Annotator: match by term: Thyroid cancer, familial medullary |
ClinVar |
PMID:10330344 PMID:10443680 PMID:11139246 PMID:11159935 PMID:11719521 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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|
G |
Prlr |
prolactin receptor |
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ISS |
OMIM:155240 |
MouseDO |
|
|
NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
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|
G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar Annotator: match by term: MEN2A and FMTC CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null |
OMIM ClinVar CTD |
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8625130 PMID:8675603 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8880581 PMID:8918855 PMID:9003111 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9681852 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11436122 PMID:11454140 PMID:11524247 PMID:11562352 PMID:11589684 PMID:11739416 PMID:11900218 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12116277 PMID:12150334 PMID:12193298 PMID:12205548 PMID:12409662 PMID:12490841 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12694233 PMID:12864791 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15164440 PMID:15184865 PMID:15240641 PMID:15277225 PMID:15281979 PMID:15292360 PMID:15452453 PMID:15531714 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15771139 PMID:15855933 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16314641 PMID:16343097 PMID:16388093 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17047083 PMID:17097365 PMID:17102091 PMID:17108110 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17483988 PMID:17540634 PMID:17610518 PMID:17704047 PMID:17848262 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:18805915 PMID:19041016 PMID:19138318 PMID:19169500 PMID:19201392 PMID:19240193 PMID:19255327 PMID:19258401 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20368568 PMID:20442138 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20739875 PMID:20833330 PMID:20847059 PMID:20979234 PMID:20981092 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23461807 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24805091 PMID:24845513 PMID:25157968 PMID:25319874 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25628771 PMID:25629635 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25767701 PMID:25810047 PMID:25887804 PMID:25950813 PMID:26046350 PMID:26084817 PMID:26230854 PMID:26247112 PMID:26269449 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26678667 PMID:26920351 PMID:27153395 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28166811 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29386230 PMID:29408964 PMID:29549836 PMID:29625052 PMID:29656518 PMID:29684080 PMID:30392857 PMID:30644554 PMID:30877234 PMID:30927507 PMID:31510104 |
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NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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|
|
G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary cutaneous melanoma ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 |
ClinVar OMIM |
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9311594 PMID:9425228 PMID:9536098 PMID:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:20668451 PMID:21520333 PMID:21801156 PMID:22804906 PMID:22932448 PMID:23384855 PMID:23546221 PMID:23718828 PMID:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25318351 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28726808 PMID:29774366 PMID:29917049 PMID:30093976 PMID:31159747 |
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NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
ClinVar Annotator: match by term: Hereditary cutaneous melanoma ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 |
ClinVar OMIM |
PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8631588 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8834170 PMID:8841025 PMID:8910511 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9168184 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9439668 PMID:9473234 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9710613 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 PMID:10338331 PMID:10360174 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10861313 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11008905 PMID:11075991 PMID:11078762 PMID:11113205 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11358797 PMID:11360201 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11511321 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12019208 PMID:12072543 PMID:12175554 PMID:12352668 PMID:12417040 PMID:12417717 PMID:12454511 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12614625 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12950144 PMID:14506702 PMID:14508519 PMID:14584079 PMID:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17624602 PMID:17713569 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18951449 PMID:18981015 PMID:18983535 PMID:19043591 PMID:19141585 PMID:19158841 PMID:19260062 PMID:19260067 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19759551 PMID:19799798 PMID:20093296 PMID:20132244 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20522552 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21503581 PMID:21507037 PMID:21609436 PMID:21614589 PMID:21619050 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23757202 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26542317 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27077911 PMID:27083775 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29983899 PMID:30038052 PMID:30086788 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31382929 PMID:31775759 PMID:31921681 PMID:32113160 PMID:33322357 PMID:109563903 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
|
|
G |
Fanca |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
|
|
G |
Klc1 |
kinesin light chain 1 |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 |
ClinVar |
PMID:11059748 |
|
NCBI chr 6:136,330,151...136,373,716
Ensembl chr 6:136,330,383...136,373,721
|
|
G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 |
OMIM ClinVar |
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10403794 PMID:10631149 PMID:10733465 PMID:10816645 PMID:11030758 PMID:11254446 PMID:11487574 PMID:11511307 PMID:11707265 PMID:11933208 PMID:12687585 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14757863 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15957185 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16172233 PMID:16280005 PMID:16309897 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17279550 PMID:17316231 PMID:17434924 PMID:17496785 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18795926 PMID:18803811 PMID:18839200 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19656326 PMID:19710684 PMID:19799798 PMID:19924138 PMID:20043015 PMID:20158590 PMID:20457063 PMID:20629734 PMID:20876876 PMID:21128237 PMID:21672182 PMID:21749400 PMID:22079958 PMID:22095472 PMID:22095742 PMID:22493355 PMID:22547573 PMID:22854540 PMID:22978401 PMID:23312576 PMID:23360207 PMID:23384855 PMID:23522749 PMID:23647022 PMID:23711066 PMID:24033266 PMID:24045876 PMID:24238329 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:29340229 PMID:31382929 |
|
NCBI chr19:56,215,420...56,219,987
|
|
G |
Mitf |
melanocyte inducing transcription factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO |
CTD ClinVar OMIM |
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25975176 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26999813 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28376192 PMID:28492532 PMID:29706638 PMID:30414346 |
|
NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
|
|
G |
Pot1 |
protection of telomeres 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25741868 PMID:25877891 PMID:26365187 PMID:26403419 PMID:27239034 PMID:27329137 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29693246 PMID:30451293 PMID:30523342 PMID:31919090 |
|
NCBI chr 4:51,888,632...51,946,764
Ensembl chr 4:51,888,634...51,946,715
|
|
G |
Spire2 |
spire-type actin nucleation factor 2 |
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ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:56,136,904...56,175,500
Ensembl chr19:56,136,904...56,175,500
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Tcf25 |
transcription factor 25 |
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ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:56,178,905...56,213,299
Ensembl chr19:56,179,111...56,213,310
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 |
ClinVar OMIM |
PMID:23348503 |
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NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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G |
Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: Hereditary cutaneous melanoma |
ClinVar |
PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 PMID:25318351 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29917049 PMID:30093976 |
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NCBI chr 7:70,352,679...70,355,555
Ensembl chr 7:70,352,251...70,355,619
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G |
Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO |
ClinVar |
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 |
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NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
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ISO |
ClinVar Annotator: match by OMIM:613972 |
ClinVar OMIM |
PMID:11059748 |
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NCBI chr 6:136,366,917...136,380,751
Ensembl chr 6:136,371,555...136,379,348
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G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
susceptibility |
ISO |
ClinVar Annotator: match by term: Meningioma, familial CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
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G |
Nf2 |
neurofibromin 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Meningioma, familial CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:20553997 PMID:25741868 PMID:28492532 |
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NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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G |
Pdgfb |
platelet derived growth factor subunit B |
susceptibility |
ISO |
ClinVar Annotator: match by term: Meningioma, familial CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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G |
Pten |
phosphatase and tensin homolog |
susceptibility |
ISO |
ClinVar Annotator: match by term: Meningioma, familial ClinVar Annotator: match by term: Meningioma, familial, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21659347 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:607174 ClinVar Annotator: match by term: Meningioma, familial CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:9536098 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:607174 ClinVar Annotator: match by term: Meningioma, familial CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:22958902 PMID:25741868 |
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NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
DNA:mutations:promoter, intron, exon:multiple |
RGD |
PMID:17096365 |
RGD:8547984 |
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Ganglioneuroblastoma |
ClinVar |
PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 |
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NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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G |
Brca1 |
BRCA1, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Ganglioneuroblastoma |
ClinVar |
PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 |
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NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Ganglioneuroblastoma |
ClinVar |
PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 |
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NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
mRNA and protein: increased expression::poor prognosis for high expression |
RGD |
PMID:15867218 |
RGD:7242847 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Men1 |
menin 1 |
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ISO |
DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17961653, PMID:15944766 |
RGD:2317354 |
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) |
RGD |
PMID:12114431 |
RGD:2317605 |
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypomethylation:promoter (human) |
RGD |
PMID:17278096 |
RGD:2317340 |
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
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G |
Slc2a2 |
solute carrier family 2 member 2 |
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ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12114701, PMID:8421107 |
RGD:2324976, RGD:2324977 |
NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
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G |
Cd53 |
Cd53 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 2:209,489,279...209,537,098
Ensembl chr 2:209,489,279...209,537,087
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G |
Cd86 |
CD86 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
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G |
Eomes |
eomesodermin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 8:127,144,367...127,152,618
Ensembl chr 8:127,144,903...127,151,493
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G |
Gata3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
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G |
Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il2rb |
interleukin 2 receptor subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
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G |
Notch2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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G |
Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 1:81,966,791...82,049,116
Ensembl chr 1:81,964,104...82,004,538
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
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G |
Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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G |
Btc |
betacellulin |
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ISO |
protein:increased expression:pancreas |
RGD |
PMID:10724350 |
RGD:2326087 |
NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
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G |
Men1 |
menin 1 |
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ISO |
DNA:deletion:exon CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17961653, PMID:20138042 |
RGD:2317288 |
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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G |
Slc2a2 |
solute carrier family 2 member 2 |
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ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12114701, PMID:8421107 |
RGD:2324976, RGD:2324977 |
NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
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G |
Sstr4 |
somatostatin receptor 4 |
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ISO |
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RGD |
PMID:8132773 |
RGD:2324994 |
NCBI chr 3:142,739,781...142,741,644
Ensembl chr 3:142,739,781...142,741,644
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G |
Phox2b |
paired-like homeobox 2b |
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ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 |
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NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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G |
Nap1l1 |
nucleosome assembly protein 1-like 1 |
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ISO |
mRNA:increased expression:intestinal mucosa (human) |
RGD |
PMID:16424981 |
RGD:9590082 |
NCBI chr 7:54,213,305...54,237,880
Ensembl chr 7:54,213,319...54,236,625
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Carcinoid tumors, intestinal |
ClinVar |
PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22703879 PMID:23175444 PMID:24728327 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 |
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NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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G |
Atrx |
ATRX, chromatin remodeler |
disease_progression |
ISO |
protein:decreased expression:pancreas: |
RGD |
PMID:24148618 |
RGD:9586032 |
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
protein:increased expression:pancreas, islet of Langerhans (human) |
RGD |
PMID:22761470 |
RGD:13452384 |
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
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G |
Daxx |
death-domain associated protein |
disease_progression |
ISO |
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RGD |
PMID:21252315 |
RGD:9587819 |
NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
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G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
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IEP |
protein:increased expression:insulinoma (rat) |
RGD |
PMID:7925129 |
RGD:2308920 |
NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
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G |
Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Chromaffinoma |
ClinVar |
PMID:18334619 PMID:18726616 |
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NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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G |
Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Chromaffinoma |
ClinVar |
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 |
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NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Chromaffinoma |
ClinVar |
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11230481 PMID:11351254 PMID:15277225 PMID:15281979 PMID:15320968 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17848262 PMID:18058472 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18322301 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19240193 PMID:19255327 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21551259 PMID:21765987 PMID:21810974 PMID:21986619 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23067224 PMID:23660872 PMID:24033266 PMID:24336963 PMID:24728327 PMID:25157968 PMID:25637381 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26332594 PMID:26467025 PMID:26489027 PMID:27379493 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28946813 |
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NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromaffinoma |
ClinVar |
PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:18362451 PMID:18840642 PMID:19454582 PMID:19802898 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30352407 |
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NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
|
ISO |
ClinVar Annotator: match by term: Chromaffinoma |
ClinVar |
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 |
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NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Chromaffinoma |
ClinVar |
PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 |
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NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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G |
Men1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Lung carcinoid tumor |
ClinVar |
PMID:9215689 PMID:9361035 PMID:11579199 PMID:12112656 PMID:12213668 PMID:15240620 PMID:15635078 PMID:15670192 PMID:17065424 PMID:17853334 PMID:17879353 PMID:19041010 PMID:21340156 PMID:22470073 PMID:23321498 PMID:24915123 PMID:25291050 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29036195 PMID:30324798 |
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NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Lung oat cell carcinoma |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 |
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NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: Lung oat cell carcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Lung oat cell carcinoma |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29446767 PMID:30543347 PMID:31775759 |
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NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Lung oat cell carcinoma |
ClinVar |
PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23399955 PMID:23470840 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Lung oat cell carcinoma |
ClinVar |
PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 |
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NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Lung oat cell carcinoma |
ClinVar |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1915267 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16741917 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19462533 PMID:19556618 PMID:19834951 PMID:19850740 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24307375 PMID:24381225 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25123297 PMID:25157968 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25587027 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27276561 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27523101 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29025599 PMID:29070607 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Adcy1 |
adenylate cyclase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr14:87,311,970...87,429,880
Ensembl chr14:87,312,203...87,421,659
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Small cell lung cancer |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 |
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NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Ascl1 |
achaete-scute family bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26253517 |
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NCBI chr 7:28,038,662...28,040,504
Ensembl chr 7:28,038,662...28,040,510
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G |
Avp |
arginine vasopressin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2832203 |
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NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: Small cell lung cancer |
ClinVar |
PMID:26619011 |
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NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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G |
Bcl2 |
BCL2, apoptosis regulator |
susceptibility |
ISO |
DNA:SNP: :rs2279115(human) |
RGD |
PMID:26311051 |
RGD:13673911 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bclaf1 |
BCL2-associated transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
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G |
Ccnd1 |
cyclin D1 |
disease_progression |
ISO |
DNA:snp:exon:c.870G>A (human) |
RGD |
PMID:29739297 |
RGD:13673912 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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ISO |
protein:increased expression:lung |
RGD |
PMID:9500468 |
RGD:13673920 |
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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G |
Cdyl |
chromodomain Y-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr17:29,672,925...29,895,416
Ensembl chr17:29,674,164...29,895,386
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G |
Ckb |
creatine kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2828370 |
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NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
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G |
Cntnap2 |
contactin associated protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 4:74,700,539...77,025,463
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G |
Col22a1 |
collagen type XXII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 7:113,014,896...113,251,165
Ensembl chr 7:113,015,747...113,228,439
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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G |
Crebbp |
CREB binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941188 |
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9093707 |
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NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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G |
Dip2c |
disco-interacting protein 2 homolog C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr17:63,426,688...63,810,183
Ensembl chr17:63,635,086...63,808,464
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
susceptibility |
ISO |
DNA:SNPs:promoter:-283T >C,-579G>T(human) |
RGD |
PMID:15528220 |
RGD:9589086 |
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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G |
E2f1 |
E2F transcription factor 1 |
disease_progression treatment |
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:24755270, PMID:11313916, PMID:23792570 |
RGD:13464335, RGD:13464344, RGD:13464337 |
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20837450 |
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NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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G |
Elavl2 |
ELAV like RNA binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 5:109,499,410...109,651,829
Ensembl chr 5:109,499,408...109,651,730
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941188 |
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NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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G |
Epha7 |
Eph receptor A7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941188 |
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NCBI chr 5:43,602,744...43,761,198
Ensembl chr 5:43,603,043...43,757,549
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941188 |
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NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Grik3 |
glutamate ionotropic receptor kainate type subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 5:143,500,441...143,715,546
Ensembl chr 5:143,500,441...143,715,546
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G |
Grm8 |
glutamate metabotropic receptor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
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G |
Id2 |
inhibitor of DNA binding 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 6:44,360,077...44,361,908
Ensembl chr 6:44,348,501...44,363,915
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G |
Insm1 |
INSM transcriptional repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 3:140,427,961...140,430,467
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G |
Itgb1 |
integrin subunit beta 1 |
disease_progression treatment |
ISO |
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RGD |
PMID:21063403, PMID:12168902 |
RGD:13792831, RGD:13792832 |
NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
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G |
Khsrp |
KH-type splicing regulatory protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 9:10,013,795...10,023,670
Ensembl chr 9:10,013,854...10,022,924
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G |
Kif21a |
kinesin family member 21A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15499612 |
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NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941188 |
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NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
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G |
Lama3 |
laminin subunit alpha 3 |
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ISO |
DNA:hyper-methylation:promoter: |
RGD |
PMID:12855645 |
RGD:13793369 |
NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
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G |
Lamb3 |
laminin subunit beta 3 |
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ISO |
DNA:hyper-methylation:promoter: |
RGD |
PMID:12855645 |
RGD:13793369 |
NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
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G |
Lamc2 |
laminin subunit gamma 2 |
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ISO |
DNA:hyper-methylation:promoter: |
RGD |
PMID:12855645 |
RGD:13793369 |
NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
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G |
Lyrm9 |
LYR motif containing 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr10:66,099,478...66,113,559
Ensembl chr10:66,099,531...66,113,559
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G |
Max |
MYC associated factor X |
|
ISO |
DNA:loss of heterozygosity:lung |
RGD |
PMID:24362264 |
RGD:13793386 |
NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
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G |
Mthfr |
methylenetetrahydrofolate reductase |
severity |
ISO |
protein:missense mutation:cds:p.A222V (human) |
RGD |
PMID:17533396 |
RGD:4891158 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Mtor |
mechanistic target of rapamycin kinase |
disease_progression |
ISO |
DNA:SNP: :rs2536(human) |
RGD |
PMID:28280736 |
RGD:13825123 |
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
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RGD |
PMID:28089889 |
RGD:13793389 |
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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G |
Mycl |
MYCL proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22941189 |
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NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
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G |
Ndrg1 |
N-myc downstream regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Small cell lung cancer ClinVar Annotator: match by term: Small cell lung carcinoma |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29446767 PMID:30543347 PMID:31775759 |
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NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
disease_progression |
ISO |
DNA:SNPs: :rs3756668,rs12755(human) |
RGD |
PMID:28280736 |
RGD:13825123 |
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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G |
Plscr4 |
phospholipid scramblase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 8:99,880,073...99,917,733
Ensembl chr 8:99,880,073...99,918,825
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung cancer |
CTD ClinVar |
PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:22941188 PMID:23335809 PMID:23399955 PMID:23470840 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Ptk2 |
protein tyrosine kinase 2 |
disease_progression |
ISO |
DNA:CNV:: |
RGD |
PMID:21800286, PMID:20802517 |
RGD:13825133, RGD:13825141 |
NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
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G |
Rarb |
retinoic acid receptor, beta |
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ISO |
DNA:methylation: : |
RGD |
PMID:29851970 |
RGD:13825142 |
NCBI chr15:9,915,223...10,262,599
Ensembl chr15:10,120,206...10,262,599
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G |
Rassf8 |
Ras association domain family member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 4:180,059,020...180,135,924
Ensembl chr 4:180,062,799...180,135,966
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar Annotator: match by term: Small cell lung cancer |
CTD ClinVar |
PMID:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:22941188 PMID:22941189 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25157968 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 |
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NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 7:78,091,998...78,594,164
Ensembl chr 7:78,092,037...78,594,138
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G |
Runx1t1 |
RUNX1 partner transcriptional co-repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 5:27,284,921...27,440,802
Ensembl chr 5:27,312,928...27,442,841
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G |
Satb2 |
SATB homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
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G |
Skp2 |
S-phase kinase associated protein 2 |
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ISO |
mRNA:increased expression:lung: |
RGD |
PMID:12107105 |
RGD:13825152 |
NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
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G |
Slit2 |
slit guidance ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941188 |
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NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26343384 |
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NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Sox2 |
SRY-box transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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G |
Tmem132d |
transmembrane protein 132D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr12:31,934,343...32,607,768
Ensembl chr12:31,934,343...32,607,370
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung cancer ClinVar Annotator: match by term: Small cell lung carcinoma |
CTD ClinVar |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1915267 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16741917 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19462533 PMID:19556618 PMID:19834951 PMID:19850740 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22941188 PMID:22941189 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24307375 PMID:24381225 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25123297 PMID:25157968 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25587027 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27276561 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27523101 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29025599 PMID:29070607 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Xpo5 |
exportin 5 |
severity |
ISO |
DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) |
RGD |
PMID:24648983 |
RGD:11041738 |
NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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G |
Zdbf2 |
zinc finger, DBF-type containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941189 |
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NCBI chr 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
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G |
Kdm4b |
lysine demethylase 4B |
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ISO |
DNA:amplification:cds (human) |
RGD |
PMID:21785329 |
RGD:9587769 |
NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
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G |
Hpgd |
15-hydroxyprostaglandin dehydrogenase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11352223 |
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NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
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G |
Ret |
ret proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7915165 |
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NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
associated with Adenomatous Polyposis Coli;DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7661930, PMID:17238184 |
RGD:6484523 |
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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G |
Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18347096 |
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NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
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G |
Bap1 |
Brca1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:25741868 PMID:26719535 PMID:28492532 |
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NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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G |
Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
OMIM ClinVar |
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079, PMID:17476307 |
RGD:11038793 |
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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G |
Brd2 |
bromodomain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24231268 |
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NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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G |
Brd3 |
bromodomain containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24231268 |
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NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
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G |
Brd4 |
bromodomain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24231268 |
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NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
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G |
Ccnd1 |
cyclin D1 |
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ISO |
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RGD |
PMID:16943274 |
RGD:13681932 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Ccne1 |
cyclin E1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
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G |
Cdk6 |
cyclin-dependent kinase 6 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 PMID:23138228, PMID:16314645 |
RGD:13702096 |
NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 |
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar OMIM |
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27959697 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19155313 |
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NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20168248 |
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NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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G |
Esr2 |
estrogen receptor 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21351254 |
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NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 |
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NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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G |
Foxo3 |
forkhead box O3 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
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G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
DNA:deletion: : |
RGD |
PMID:18952980 |
RGD:5490237 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
DNA:deletion: : |
RGD |
PMID:18952980 |
RGD:5490237 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Hic1 |
HIC ZBTB transcriptional repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18347096 |
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NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 |
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NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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Ifng |
interferon gamma |
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ISS |
OMIM:155255 |
MouseDO |
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NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Irs2 |
insulin receptor substrate 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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G |
Kat6a |
lysine acetyltransferase 6A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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G |
Kdm4b |
lysine demethylase 4B |
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ISO |
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706, PMID:19270706 |
RGD:9587481 |
NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
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G |
Kdm4c |
lysine demethylase 4C |
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ISO |
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706, PMID:19270706 |
RGD:9587481 |
NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
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G |
L3mbtl2 |
L3MBTL histone methyl-lysine binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036
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G |
L3mbtl3 |
L3MBTL histone methyl-lysine binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 1:19,998,776...20,097,298
Ensembl chr 1:20,022,793...20,097,099
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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G |
Mycl |
MYCL proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma |
CTD ClinVar |
PMID:19270706 PMID:26619011 |
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NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:71,324,365...71,342,225
Ensembl chr X:71,324,365...71,342,225
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:26619011 PMID:27993330 |
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NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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G |
Otx2 |
orthodenticle homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691 Ensembl chr15:25,502,019...25,505,691
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706, PMID:25576913 |
RGD:13702904 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 |
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NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652733 |
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NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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G |
Prame |
PRAME nuclear receptor transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16179254 |
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NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 PMID:28492532 |
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NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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G |
Ptch1 |
patched 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma |
CTD ClinVar |
PMID:18347096 PMID:19155313 PMID:19213072 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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G |
Ptch2 |
patched 2 |
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ISO |
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OMIM |
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NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
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G |
Rassf1 |
Ras association domain family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21880625 |
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NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:25741868 PMID:28492532, PMID:10783170 |
RGD:1302544 |
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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G |
S100a10 |
S100 calcium binding protein A10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17579622 |
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NCBI chr 2:193,892,589...193,901,236
Ensembl chr 2:193,892,589...193,901,236
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G |
S100a4 |
S100 calcium-binding protein A4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17579622 |
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NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
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G |
S100a6 |
S100 calcium binding protein A6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17579622 |
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NCBI chr 2:190,007,013...190,008,512
Ensembl chr 2:190,007,216...190,008,511
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G |
Scg5 |
secretogranin V |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17334394 |
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NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr X:35,305,235...35,431,271
Ensembl chr X:35,305,236...35,431,164
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G |
Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
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G |
Skp2 |
S-phase kinase associated protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Smo |
smoothened, frizzled class receptor |
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ISO ISS |
ClinVar Annotator: match by term: Medulloblastoma OMIM:155255 |
ClinVar MouseDO |
PMID:19726788 PMID:22679179 PMID:25759020 |
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NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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G |
Smyd4 |
SET and MYND domain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr10:62,191,669...62,237,939
Ensembl chr10:62,191,656...62,238,113
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G |
Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19001435 |
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NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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G |
Strada |
STE20 related adaptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652733 |
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NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, desmoplastic ClinVar Annotator: match by OMIM:155255 ClinVar Annotator: match by term: Medulloblastoma, desmoplastic, UMLS MESH term: Arachnoidal Cerebellar Sarcoma, Circumscribed |
ClinVar OMIM |
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29641532, PMID:12068298 |
RGD:1599191 |
NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
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Tp53 |
tumor protein p53 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Medulloblastoma, somatic protein:increased expression:nucleus: |
ClinVar |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9825943 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25525159 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28915717 PMID:29025599 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721, PMID:10783170, PMID:11451203 |
RGD:1302544, RGD:8547823 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tsc2 |
TSC complex subunit 2 |
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ISO |
DNA:polymorphism:intron |
RGD |
PMID:11603814 |
RGD:11072879 |
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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G |
Vav1 |
vav guanine nucleotide exchange factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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G |
Wrn |
WRN RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:28492532 |
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NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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G |
Abcb5 |
ATP binding cassette subfamily B member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15899824 |
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NCBI chr 6:146,805,481...146,902,339
Ensembl chr 6:146,805,599...146,902,339
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G |
Acer3 |
alkaline ceramidase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
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G |
Adamts20 |
ADAM metallopeptidase with thrombospondin type 1 motif, 20 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21559390 |
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NCBI chr 7:135,465,021...135,630,941
Ensembl chr 7:135,466,884...135,630,654
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO |
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RGD |
PMID:15009731 |
RGD:8695970 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
Akr1b10 |
aldo-keto reductase family 1 member B10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499247 |
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NCBI chr 4:61,813,265...61,830,371
Ensembl chr 4:61,771,970...61,828,657
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar Annotator: match by term: Melanoma |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24265152 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 |
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NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Aldh1a1 |
aldehyde dehydrogenase 1 family, member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31580832 |
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NCBI chr 1:238,222,689...238,264,381
Ensembl chr 1:238,222,521...238,264,330
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G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31580832 |
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NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882
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G |
Amigo2 |
adhesion molecule with Ig like domain 2 |
treatment |
ISO |
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RGD |
PMID:26553931 |
RGD:14392781 |
NCBI chr 7:138,704,124...138,707,221
Ensembl chr 7:138,704,126...138,707,221
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G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16373707 |
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NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
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G |
Arl2 |
ADP-ribosylation factor like GTPase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:221,504,150...221,516,191
Ensembl chr 1:221,504,170...221,516,110
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G |
Arl5b |
ADP-ribosylation factor like GTPase 5B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362
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G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983785 |
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NCBI chr 2:196,594,178...196,651,486
Ensembl chr 2:196,594,303...196,651,179
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G |
Arpc2 |
actin related protein 2/3 complex, subunit 2 |
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ISO |
protein:increased expression:nevus (human) |
RGD |
PMID:19332774 |
RGD:11049176 |
NCBI chr 9:81,518,163...81,548,871
Ensembl chr 9:81,518,176...81,548,871
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G |
Asf1a |
anti-silencing function 1A histone chaperone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr20:34,894,419...34,909,265
Ensembl chr20:34,894,419...34,909,265
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G |
Asip |
agouti signaling protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18488027 PMID:18641652 PMID:21983785 |
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NCBI chr 3:150,492,010...150,579,870
Ensembl chr 3:150,574,473...150,579,870
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G |
Ass1 |
argininosuccinate synthase 1 |
|
ISO |
|
RGD |
PMID:12359751 |
RGD:4140479 |
NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983787 |
|
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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G |
Atrx |
ATRX, chromatin remodeler |
disease_progression |
ISO |
protein:decreased expression:skin: |
RGD |
PMID:24468746 |
RGD:9586028 |
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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G |
Aurka |
aurora kinase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
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G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:26619011 |
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NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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G |
Batf2 |
basic leucine zipper ATF-like transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 1:221,538,006...221,546,650
Ensembl chr 1:221,538,104...221,545,782
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G |
Bcl2 |
BCL2, apoptosis regulator |
severity |
ISO |
protein:increased expression:lymph node (human) |
RGD |
PMID:8783649 |
RGD:11526106 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bcl2l1 |
Bcl2-like 1 |
disease_progression |
ISO |
protein:increased expression:skin, subcutaneous tissue (human) |
RGD |
PMID:17384650 |
RGD:11353861 |
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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G |
Bcl2l12 |
BCL2 like 12 |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:26619011 |
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NCBI chr 1:100,984,550...100,993,269
Ensembl chr 1:100,984,550...100,993,269
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G |
Bles03 |
basophilic leukemia expressed protein BLES03 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 1:220,806,563...220,808,817
Ensembl chr 1:220,806,473...220,808,804
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G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP:cds:6007C>T (rs17563)(human) |
RGD |
PMID:19557432 |
RGD:9068447 |
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
treatment onset |
ISO |
ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: Melanoma ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC CTD Direct Evidence: marker/mechanism DNA:mutations: : |
ClinVar CTD |
PMID:2493360 PMID:2872605 PMID:8042262 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15016963 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15753399 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18421705 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19282848 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19735675 PMID:19913317 PMID:20008640 PMID:20130576 PMID:20141835 PMID:20301365 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:20973932 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21499247 PMID:21502544 PMID:21606968 PMID:21639808 PMID:21641636 PMID:21656352 PMID:21683865 PMID:21750866 PMID:21770473 PMID:21784453 PMID:21802280 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22535842 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22842228 PMID:22892241 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23237741 PMID:23248257 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23432625 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23584600 PMID:23587417 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23907581 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24154489 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24710085 PMID:24717435 PMID:24918823 PMID:24926260 PMID:25024077 PMID:25037139 PMID:25043973 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26192916 PMID:26214590 PMID:26582644 PMID:26619011 PMID:26678033 PMID:27222248 PMID:27404270 PMID:27480103 PMID:27689874 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29084544 PMID:29426936 PMID:29493581 PMID:29574239 PMID:29595366 PMID:29925953 PMID:30138938 PMID:30732632 PMID:31580832 PMID:31779674 PMID:31891627, PMID:16424035, PMID:22319199, PMID:25623140 |
RGD:1580103, RGD:11567267, RGD:11567259 |
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Brca2 |
BRCA2, DNA repair associated |
susceptibility |
ISO |
DNA:polymorphism:cds:p.N991D(human) ClinVar Annotator: match by term: Melanoma |
ClinVar |
PMID:25741868 PMID:28492532, PMID:18024013 |
RGD:9068469 |
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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G |
Brd2 |
bromodomain containing 2 |
|
ISO |
protein:mRNA:skin: |
RGD |
PMID:23950209 |
RGD:9586346 |
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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G |
Brd4 |
bromodomain containing 4 |
|
ISO |
protein:mRNA:skin: |
RGD |
PMID:23950209 |
RGD:9586346 |
NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
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G |
Bzw1 |
basic leucine zipper and W2 domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 9:65,279,675...65,293,471
Ensembl chr 9:65,279,675...65,291,651
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G |
C3 |
complement C3 |
treatment |
ISO |
|
RGD |
PMID:17146472 |
RGD:7401279 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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G |
Capn1 |
calpain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
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G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18563783 PMID:21983787 |
|
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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G |
Cat |
catalase |
|
ISO |
protein:increased activity:melanocyte: protein:increased activity:multiple: |
RGD |
PMID:9758419, PMID:15224238 |
RGD:9479151, RGD:9479742 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Cav1 |
caveolin 1 |
disease_progression |
ISO |
|
RGD |
PMID:22134245 |
RGD:8661767 |
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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G |
Cbs |
cystathionine beta synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25205294 |
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NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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G |
Ccdc63 |
coiled-coil domain containing 63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499247 |
|
NCBI chr12:39,905,120...39,950,719
Ensembl chr12:39,913,628...39,950,641
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:22421945, PMID:17327609 |
RGD:11522740, RGD:11522745 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Cdk2 |
cyclin dependent kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21559390 |
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NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
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G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Malignant melanoma ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 |
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NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:skin |
RGD |
PMID:22311377, PMID:9194578 |
RGD:8662421, RGD:8662817 |
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
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NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
susceptibility |
ISO |
DNA:point mutation, insertion:exon ClinVar Annotator: match by term: Malignant melanoma ClinVar Annotator: match by term: Melanoma ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 PMID:7987387 PMID:8012957 PMID:8153634 PMID:8521414 PMID:8552158 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9324288 PMID:9425228 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10389768 PMID:10491434 PMID:10508477 PMID:10869234 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11579459 PMID:11687599 PMID:11807902 PMID:12072543 PMID:14679123 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17397031 PMID:17992122 PMID:18573309 PMID:19260062 PMID:19360740 PMID:20340136 PMID:20505745 PMID:21462282 PMID:21507037 PMID:21609436 PMID:21801156 PMID:24336570 PMID:24495407 PMID:24659262 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26381259 PMID:26467025 PMID:26619011 PMID:26658419 PMID:26681309 PMID:26775776 PMID:27181379 PMID:28146043 PMID:28492532 PMID:28592523 PMID:28830827 PMID:29426936 PMID:29983899 PMID:30291219 PMID:30742731 PMID:31775759, PMID:9168184, PMID:12538879 |
RGD:1600812, RGD:8552300 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:16456816 |
RGD:4892643 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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G |
Clns1a |
chloride nucleotide-sensitive channel 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 1:162,676,246...162,696,549
Ensembl chr 1:162,676,269...162,696,544
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G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15955107 |
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NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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G |
Cnnm1 |
cyclin and CBS domain divalent metal cation transport mediator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
|
NCBI chr 1:263,184,361...263,243,912
Ensembl chr 1:263,186,235...263,242,468
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G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
|
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23792645 |
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NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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G |
Cpt1c |
carnitine palmitoyltransferase 1c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
|
NCBI chr 1:100,955,094...100,970,579
Ensembl chr 1:100,955,095...100,969,560
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 |
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Crnkl1 |
crooked neck pre-mRNA splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:26619011 |
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NCBI chr 6:18,349,226...18,351,540
Ensembl chr 6:18,349,167...18,351,536
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G |
Crybg1 |
crystallin beta-gamma domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22402438 |
|
NCBI chr20:48,927,942...49,123,724
Ensembl chr20:48,927,914...48,969,499
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G |
Csf2 |
colony stimulating factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11061616 |
|
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16120623 PMID:16260693 |
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NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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G |
Cst6 |
cystatin E/M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
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G |
Cth |
cystathionine gamma-lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25205294 |
|
NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
DNA:SNPs: :-11577G>A,rs3087243(human) CTD Direct Evidence: therapeutic |
CTD |
PMID:21802280, PMID:23641913 |
RGD:7411681 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: Melanoma |
ClinVar |
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Cubn |
cubilin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
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G |
Cul3 |
cullin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
|
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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G |
Dcbld1 |
discoidin, CUB and LCCL domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr20:33,359,062...33,455,161
Ensembl chr20:33,359,196...33,453,766
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G |
Dcc |
DCC netrin 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22842228 |
|
NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
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G |
Ddit4l |
DNA-damage-inducible transcript 4-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
|
NCBI chr 2:242,882,219...242,885,088
Ensembl chr 2:242,882,306...242,885,131
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G |
Dlg2 |
discs large MAGUK scaffold protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr 1:154,916,274...157,274,077
Ensembl chr 1:156,552,328...157,269,747
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G |
Dnajc1 |
DnaJ heat shock protein family (Hsp40) member C1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
|
NCBI chr17:84,986,994...85,141,464
Ensembl chr17:84,986,991...85,141,210
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G |
Dnajc15 |
DnaJ heat shock protein family (Hsp40) member C15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
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NCBI chr15:59,990,131...60,056,710
Ensembl chr15:59,990,131...60,056,710
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G |
Drap1 |
Dr1 associated protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:220,803,783...220,806,480
Ensembl chr 1:220,803,796...220,806,433
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G |
Dsc1 |
desmocollin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197931 |
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NCBI chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
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G |
E2f1 |
E2F transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:15574415 PMID:16827129 |
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NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
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G |
Echdc1 |
ethylmalonyl-CoA decarboxylase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:30,874,410...30,921,117
Ensembl chr 1:30,874,418...30,917,882
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G |
Eda |
ectodysplasin-A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr X:69,730,123...70,222,693
Ensembl chr X:69,730,242...70,220,329
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G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
disease_progression |
ISO |
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RGD |
PMID:24658378 |
RGD:9590069 |
NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
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G |
Eif1ad |
eukaryotic translation initiation factor 1A domain containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
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G |
Eln |
elastin |
disease_progression |
ISO |
associated with Nevus, Pigmented; |
RGD |
PMID:11979070, PMID:19032378 |
RGD:9585752, RGD:9585768 |
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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G |
Eng |
endoglin |
treatment |
ISO |
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RGD |
PMID:23076642 |
RGD:7248785 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23698071 |
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NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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G |
Epb41 |
erythrocyte membrane protein band 4.1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
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NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
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G |
Ephx3 |
epoxide hydrolase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
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NCBI chr 7:14,212,470...14,217,778
Ensembl chr 7:14,212,470...14,217,778
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G |
Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15743794 |
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NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Epor |
erythropoietin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21860424 |
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NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 |
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NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melanoma |
CTD ClinVar |
PMID:19718025 |
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NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21722328 |
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NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
disease_progression |
ISO |
DNA:polymorphism:exon:p.K751Q(human) |
RGD |
PMID:21390047 |
RGD:12880434 |
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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G |
Ercc5 |
ERCC excision repair 5, endonuclease |
disease_progression |
ISO |
DNA:polymorphism:exon:p.D1104H(human) |
RGD |
PMID:21390047 |
RGD:12880434 |
NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
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G |
Esr1 |
estrogen receptor 1 |
severity |
ISO |
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RGD |
PMID:19153340 |
RGD:8553064 |
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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G |
Esr2 |
estrogen receptor 2 |
severity |
ISO |
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RGD |
PMID:19153340 |
RGD:8553064 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
F2rl1 |
F2R like trypsin receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
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NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) |
RGD |
PMID:16538172 |
RGD:12903985 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Faslg |
Fas ligand |
susceptibility |
ISO |
CTD Direct Evidence: therapeutic DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human) |
CTD |
PMID:16487513, PMID:16538172 |
RGD:12903985 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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G |
Fasn |
fatty acid synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18770866 PMID:20805790 PMID:21213365 |
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NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22197931 |
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NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387 Ensembl chr 2:125,752,130...125,879,387
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Malignant melanoma |
ClinVar |
PMID:7611299 PMID:8894692 PMID:9401003 PMID:10533071 PMID:10874320 PMID:11700157 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:24033266 PMID:24161884 PMID:25741868 PMID:26133393 PMID:28492532 |
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NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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G |
Fhip2a |
FHF complex subunit HOOK interacting protein 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:278,198,181...278,224,365
Ensembl chr 1:278,198,179...278,221,686
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19718025, PMID:21730877 |
RGD:8552360 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23455637 |
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NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
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G |
Gab2 |
GRB2-associated binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:162,082,876...162,283,379
Ensembl chr 1:162,083,030...162,279,727
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G |
Gdf15 |
growth differentiation factor 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
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NCBI chr16:20,555,395...20,557,978
Ensembl chr16:20,555,395...20,557,978
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
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RGD |
PMID:6120756 |
RGD:14747014 |
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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G |
Glo1 |
glyoxalase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20093988 |
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NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar Annotator: match by term: Malignant melanoma, somatic |
CTD ClinVar |
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 PMID:22808163 PMID:23432625 PMID:24141786 PMID:25157968 PMID:26619011 |
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NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
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G |
Gnaq |
G protein subunit alpha q |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melanoma ClinVar Annotator: match by term: Malignant melanoma, somatic |
CTD ClinVar |
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:23432625 PMID:25157968 |
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NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
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G |
Gnas |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC |
ClinVar |
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 |
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NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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G |
Gopc |
golgi associated PDZ and coiled-coil motif containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
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G |
Gpam |
glycerol-3-phosphate acyltransferase, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
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G |
Gper1 |
G protein-coupled estrogen receptor 1 |
severity |
ISO |
protein:increased expression:skin (human) |
RGD |
PMID:28467693 |
RGD:39939016 |
NCBI chr12:17,309,122...17,315,267
Ensembl chr12:17,309,834...17,311,112
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G |
Gpha2 |
glycoprotein hormone subunit alpha 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:221,594,110...221,597,297
Ensembl chr 1:221,596,148...221,597,296
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499247 |
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NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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G |
Grm3 |
glutamate metabotropic receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21946352 PMID:22842228 |
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NCBI chr 4:21,316,761...21,567,561
Ensembl chr 4:21,317,695...21,560,490
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
DNA:polymorphism:cds:p.I50V(human) |
RGD |
PMID:23568549 |
RGD:8547833 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Hdac2 |
histone deacetylase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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G |
Hdac3 |
histone deacetylase 3 |
|
ISO |
associated with Anaphylaxis; |
RGD |
PMID:24619412 |
RGD:9590165 |
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr X:15,396,185...15,417,486
Ensembl chr X:15,295,473...15,316,671 Ensembl chr X:15,295,473...15,316,671
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G |
Hikeshi |
heat shock protein nuclear import factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409
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G |
Hoxa9 |
homeobox A9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
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NCBI chr 4:82,191,804...82,199,025
Ensembl chr 4:82,192,963...82,194,927
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G |
Hoxb13 |
homeo box B13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17145863 |
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NCBI chr10:84,031,955...84,034,228
Ensembl chr10:84,031,955...84,034,228
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G |
Hoxd12 |
homeo box D12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778180 |
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NCBI chr 3:61,597,382...61,598,503
Ensembl chr 3:61,597,382...61,598,503
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G |
Hpse |
heparanase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22240343 |
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NCBI chr14:10,534,358...10,576,686
Ensembl chr14:10,534,423...10,575,224
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: Melanoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30619488 PMID:31394527 PMID:31775759 PMID:168335863 |
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NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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G |
Hs3st5 |
heparan sulfate-glucosamine 3-sulfotransferase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr20:40,236,437...40,545,502
Ensembl chr20:40,236,437...40,545,494
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26984758 |
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NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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G |
Icam1 |
intercellular adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:8599446 |
RGD:8547584 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar Annotator: match by term: Malignant melanoma, somatic |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 |
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NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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G |
Ifnb1 |
interferon beta 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16928243 PMID:21846298 |
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NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9794839 |
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NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il17d |
interleukin 17D |
severity |
ISO |
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RGD |
PMID:31244826 |
RGD:40903065 |
NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr X:55,439,388...57,004,865
Ensembl chr X:55,439,578...56,765,893
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
mouse model treated with human protein |
RGD |
PMID:8168095 |
RGD:6909140 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 PMID:16248763 PMID:16260693 PMID:16432458 PMID:16809738 PMID:16939954 PMID:17023156 PMID:17105418 PMID:17576460 PMID:17709802 PMID:17761969 PMID:18176117 PMID:18281670 PMID:18298334 PMID:18332650 PMID:18999936 PMID:19243244 PMID:20423231 |
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NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Incenp |
inner centromere protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 1:225,923,448...225,953,384
Ensembl chr 1:225,925,773...225,952,516
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G |
Iqch |
IQ motif containing H |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22535842 |
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NCBI chr 8:68,332,526...68,526,013
Ensembl chr 8:68,308,268...68,525,924
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G |
Jakmip2 |
janus kinase and microtubule interacting protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22842228 |
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NCBI chr18:37,868,645...38,088,530
Ensembl chr18:37,869,289...38,088,457
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G |
Jmjd6 |
jumonji domain containing 6, arginine demethylase and lysine hydroxylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30619488 |
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NCBI chr10:105,781,752...105,787,803
Ensembl chr10:105,781,753...105,787,803
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G |
Kdm1a |
lysine demethylase 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
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NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
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G |
Kdm4a |
lysine demethylase 4A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
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NCBI chr 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
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G |
Kdm4b |
lysine demethylase 4B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
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NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
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G |
Kdm4c |
lysine demethylase 4C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
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NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
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G |
Kdm7a |
lysine demethylase 7A |
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ISO |
human gene in a mouse model |
RGD |
PMID:22143793 |
RGD:9587848 |
NCBI chr 4:66,915,603...66,957,971
Ensembl chr 4:66,922,013...66,955,732
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G |
Kdr |
kinase insert domain receptor |
disease_progression |
ISO |
protein:increased expression, altered expression:skin: protein:increased expression:serum: |
RGD |
PMID:15714119, PMID:21730877 |
RGD:8551851, RGD:8552360 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Khdrbs2 |
KH RNA binding domain containing, signal transduction associated 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499247 |
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NCBI chr 9:39,501,431...40,008,707
Ensembl chr 9:39,539,530...40,008,680
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G |
Kif18b |
kinesin family member 18B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31617652 |
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NCBI chr10:91,008,294...91,027,760
Ensembl chr10:91,008,269...91,027,738
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Melanoma ClinVar Annotator: match by term: Malignant melanoma, somatic |
ClinVar |
PMID:7513208 PMID:7530509 PMID:8589724 PMID:9438854 PMID:9657776 PMID:10224103 PMID:10362788 PMID:10680913 PMID:11073817 PMID:11276010 PMID:11505412 PMID:11526490 PMID:12697809 PMID:12960119 PMID:14977822 PMID:15685537 PMID:15790786 PMID:16046538 PMID:16226710 PMID:16638875 PMID:16731599 PMID:16741525 PMID:16751810 PMID:16908931 PMID:16954519 PMID:17259998 PMID:17363509 PMID:17372901 PMID:17489795 PMID:17699867 PMID:17824795 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18955458 PMID:18980976 PMID:19164557 PMID:19671763 PMID:19737976 PMID:19812602 PMID:19865100 PMID:19996579 PMID:20088873 PMID:20147452 PMID:20545949 PMID:20736294 PMID:21131919 PMID:21159146 PMID:21569090 PMID:21642685 PMID:21689725 PMID:21690468 PMID:21969494 PMID:22160160 PMID:22261812 PMID:22355224 PMID:22357254 PMID:22932406 PMID:23106360 PMID:23149070 PMID:23375402 PMID:23582185 PMID:23598963 PMID:23714533 PMID:23775962 PMID:24531699 PMID:24661573 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27771813 PMID:28492532, PMID:9310959 |
RGD:12910725 |
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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