RGD DISEASE ONTOLOGY - ANNOTATIONS |
|
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
|
Term: | Nervous System Neoplasms |
|
Accession: | DOID:9006557
|
browse the term
|
Definition: | Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms. |
Synonyms: | exact_synonym: | Nervous System Neoplasm; Nervous System Tumor; neoplasm of nervous system; nervous system tumors; neural neoplasm; neural tumor; tumor of the nervous system; tumors of the nervous system |
| primary_id: | MESH:D009423; RDO:0001610 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Artn |
artemin |
|
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
|
|
G |
Bdnf |
brain-derived neurotrophic factor |
|
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
|
|
G |
Cav1 |
caveolin 1 |
|
ISO |
|
RGD |
PMID:20881564 |
RGD:8661782 |
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
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
|
|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
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
|
|
G |
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
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15354013 |
RGD:11567268 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
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
|
|
G |
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
|
|
G |
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
|
|
G |
Nf2 |
neurofibromin 2 |
|
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
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:14660915 |
RGD:8547959 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
|
G |
Aip |
aryl-hydrocarbon receptor-interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING |
CTD ClinVar |
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 |
|
NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
|
|
G |
Avpr1b |
arginine vasopressin receptor 1B |
|
ISO |
|
RGD |
PMID:23884782 |
RGD:14700670 |
NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16195406 |
|
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
|
|
G |
Usp8 |
ubiquitin specific peptidase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:25485838 |
|
NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
|
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
|
|
|
G |
Mki67 |
marker of proliferation Ki-67 |
severity |
ISO |
|
RGD |
PMID:21696422 |
RGD:6483520 |
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
|
|
|
G |
Chd6 |
chromodomain helicase DNA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma |
ClinVar |
|
|
NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
|
|
|
G |
Ifnb1 |
interferon beta 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15990972 |
|
NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
|
|
|
G |
Nefh |
neurofilament heavy |
treatment |
ISO |
|
RGD |
PMID:31313506 |
RGD:27226816 |
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
|
|
G |
Nefl |
neurofilament light |
treatment |
ISO |
|
RGD |
PMID:31313506 |
RGD:27226816 |
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
|
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Arachnoid cyst |
ClinVar |
PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 PMID:15389709 PMID:15520399 PMID:16053901 PMID:16358218 PMID:16377799 PMID:16638574 PMID:16679933 PMID:17020470 PMID:18372317 PMID:18849586 PMID:19725129 PMID:19768645 PMID:20308328 PMID:21339643 PMID:21747628 PMID:22681964 PMID:22822385 PMID:23673659 PMID:24033266 PMID:24401936 PMID:24775816 PMID:24820750 PMID:24935154 PMID:25731833 PMID:25741868 PMID:25917897 PMID:26337637 PMID:26918529 PMID:28483241 PMID:28492532 PMID:29276006 PMID:30311386 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Arachnoid cyst |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
|
|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISS |
OMIM:108010 |
MouseDO |
|
|
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
|
|
G |
Cdh2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
|
|
G |
Eng |
endoglin |
disease_progression |
ISO ISS |
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 |
ClinVar MouseDO |
PMID:25741868, PMID:24876084, PMID:24520391 |
RGD:11041171, RGD:11041564 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
|
|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
|
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
|
|
G |
Il17rd |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 |
|
NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
|
OMIM |
|
|
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
OMIM ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 |
|
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Lemd3 |
LEM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
|
|
G |
Map4k4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,657,444...46,782,545
Ensembl chr 9:46,657,575...46,782,545
|
|
G |
Notch4 |
notch receptor 4 |
|
ISO ISS |
OMIM:108010 |
MouseDO |
PMID:19546852 |
RGD:6480671 |
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
|
|
G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
|
|
G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:7,622,668...7,941,715
Ensembl chr 5:7,627,771...7,941,822
|
|
G |
Sars1 |
seryl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
|
|
G |
Scube2 |
signal peptide, CUB domain and EGF like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:174,428,056...174,495,356
Ensembl chr 1:174,428,699...174,495,258
|
|
G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
G |
Zfyve16 |
zinc finger FYVE-type containing 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
|
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Neuroepithelial neoplasm |
ClinVar |
PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 |
|
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
|
|
G |
Mir542 |
microRNA 542 |
disease_progression |
ISO |
|
RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:158,152,146...158,152,224
Ensembl chr X:158,152,146...158,152,224
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
|
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
|
|
|
G |
Acvr1 |
activin A receptor type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705250 |
|
NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
|
|
G |
Adgrb1 |
adhesion G protein-coupled receptor B1 |
severity |
ISO |
|
RGD |
PMID:23761815 |
RGD:13831356 |
NCBI chr 7:115,766,484...115,828,514
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
disease_progression |
ISO |
|
RGD |
PMID:19240976 |
RGD:5509079 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
severity |
ISO |
|
RGD |
PMID:20167810 |
RGD:13674163 |
NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
|
|
G |
Akt3 |
AKT serine/threonine kinase 3 |
severity |
ISO |
|
RGD |
PMID:20167810 |
RGD:13674163 |
NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
|
|
G |
Anxa1 |
annexin A1 |
|
ISO |
associated with Tuberous Sclerosis;mRNA:increased expression:brain |
RGD |
PMID:20133820 |
RGD:7421564 |
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
|
|
G |
Ar |
androgen receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
|
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
|
|
G |
Arid1b |
AT-rich interaction domain 1B |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
|
|
G |
Atrx |
ATRX, chromatin remodeler |
disease_progression severity |
ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053, PMID:24810474, PMID:23765250 |
RGD:9586026, RGD:11040585 |
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
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
onset |
ISO |
CTD Direct Evidence: marker/mechanism DNA:rearrangement: : DNA:mutation:cds:p.V600E(human) |
CTD |
PMID:23817572, PMID:19794125, PMID:25346165 |
RGD:11069832, RGD:11567238 |
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Brd7 |
bromodomain containing 7 |
severity |
ISO |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
|
|
G |
Bst2 |
bone marrow stromal cell antigen 2 |
severity |
ISO |
|
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
|
|
G |
Cadm2 |
cell adhesion molecule 2 |
severity |
ISO |
protein:decreased expression:brain |
RGD |
PMID:30816549 |
RGD:19165125 |
NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
|
|
G |
Camk2g |
calcium/calmodulin-dependent protein kinase II gamma |
disease_progression |
ISO |
|
RGD |
PMID:12937144 |
RGD:13702480 |
NCBI chr15:3,936,721...3,995,740
Ensembl chr15:3,936,786...3,995,915
|
|
G |
Ccnd1 |
cyclin D1 |
severity |
ISO |
|
RGD |
PMID:10419598 |
RGD:13681931 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
|
|
G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:27083775 PMID:27153395 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:32295079 |
|
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
|
|
G |
Epha5 |
EPH receptor A5 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
|
NCBI chr14:25,589,312...25,958,258
Ensembl chr14:25,589,762...25,958,227
|
|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
|
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
|
|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
|
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma |
CTD ClinVar |
PMID:10766980 PMID:23817572 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 |
|
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Gstm1 |
glutathione S-transferase mu 1 |
severity |
ISO |
DNA:deletion: : |
RGD |
PMID:12241105 |
RGD:5490125 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.A114V (human) |
RGD |
PMID:12241105 |
RGD:5490125 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
|
|
G |
H3f3a |
H3.3 histone A |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:26619011 |
|
NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
|
|
G |
Hey1 |
hes-related family bHLH transcription factor with YRPW motif 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
|
|
G |
Hey2 |
hes-related family bHLH transcription factor with YRPW motif 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11223164 |
|
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
|
|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
|
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
|
|
G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
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 |
|
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
|
|
G |
Il16 |
interleukin 16 |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:17221335 |
RGD:5024941 |
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
|
|
G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
susceptibility |
ISO |
sporadic pilocytic astrocytoma, OMIM:137800 DNA:mutation:cds:p.G12D(mouse) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572, PMID:16247081, PMID:24038521 |
RGD:1600476, RGD:13702858 |
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
G |
Lats1 |
large tumor suppressor kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17049657 |
|
NCBI chr 1:1,784,078...1,817,310
Ensembl chr 1:1,784,078...1,817,310
|
|
G |
Lats2 |
large tumor suppressor kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17049657 |
|
NCBI chr15:37,943,609...37,995,175
Ensembl chr15:37,943,609...37,983,882
|
|
G |
Map2k3 |
mitogen activated protein kinase kinase 3 |
|
ISO |
protein:increased expression, increased phosphorylation:brain |
RGD |
PMID:17406030 |
RGD:1641940 |
NCBI chr10:45,089,455...45,110,802
Ensembl chr10:47,182,433...47,203,753
|
|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11223164 |
|
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
|
|
G |
Mir155hg |
Mir155 host gene |
severity |
ISO |
|
RGD |
PMID:27764782 |
RGD:11571728 |
NCBI chr11:24,175,417...24,177,646
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20188714 |
|
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20188714 |
|
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
severity |
ISO |
mRNA:decreased expression:brain tumor (human) |
RGD |
PMID:17034947 |
RGD:2317736 |
NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
|
|
G |
Ncoa3 |
nuclear receptor coactivator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
|
NCBI chr 3:162,692,176...162,788,582
Ensembl chr 3:162,692,185...162,787,548
|
|
G |
Ndrg1 |
N-myc downstream regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
|
NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
|
|
G |
Nedd8 |
NEDD8 ubiquitin like modifier |
|
ISO |
|
RGD |
PMID:12533840 |
RGD:1549458 |
NCBI chr15:34,340,607...34,352,673
Ensembl chr15:34,340,607...34,352,673
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
protein:decreased expression:brain: CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20176786 PMID:23817572, PMID:10973261, PMID:10931370 |
RGD:1302542, RGD:12743656 |
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
|
|
G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
|
|
G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572 |
|
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
|
|
G |
Pcmt1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 |
|
ISO |
protein:decreased expression,decreased activity:brain: |
RGD |
PMID:15857672 |
RGD:10448283 |
NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma |
CTD ClinVar |
PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:17177198 PMID:18470943 PMID:19047918 PMID:21930766 PMID:23756559 PMID:23817572 PMID:23825065 PMID:24033266 PMID:25097206 PMID:26619011 PMID:27783593 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
RGD1306271 |
similar to KIAA1549 protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572 |
|
NCBI chr 4:65,834,933...65,962,722
Ensembl chr 4:65,834,035...65,962,539
|
|
G |
Tp53 |
tumor protein p53 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma, anaplastic DNA:nonsense mutation:cds: |
CTD ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9525742 PMID:9546439 PMID:9627118 PMID:9667734 PMID:10229196 PMID:10519380 PMID:10557074 PMID:10922393 PMID:11358831 PMID:11370630 PMID:11429700 PMID:11429705 PMID:11715068 PMID:11896595 PMID:12019170 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15173255 PMID:15580553 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16000567 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:18628487 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20176786 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21674059 PMID:21761402 PMID:22672556 PMID:23161690 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24729566 PMID:24835218 PMID:25157968 PMID:25460562 PMID:25584008 PMID:25619955 PMID:25637381 PMID:25741868 PMID:26014290 PMID:26200271 PMID:26205489 PMID:26225655 PMID:26467025 PMID:26619011 PMID:26681312 PMID:26743472 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27621308 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30816478 PMID:32000721, PMID:24038521 |
RGD:13702858 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
|
|
|
G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 |
|
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
|
|
G |
Derl3 |
derlin 3 |
|
ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:13,692,102...13,707,645
Ensembl chr20:13,704,314...13,706,205
|
|
G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:609322 |
OMIM ClinVar |
PMID:9671307 PMID:10521299 PMID:10739763 PMID:12226744 PMID:18414213 PMID:18647326 PMID:19124645 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor |
ClinVar |
PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21761402 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:27621308 PMID:28492532 PMID:30816478 PMID:32000721 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
G |
Hnrnpl |
heterogeneous nuclear ribonucleoprotein L |
susceptibility |
ISO |
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) |
RGD |
PMID:15543619 |
RGD:10002773 |
NCBI chr 1:86,994,090...87,006,776
Ensembl chr 1:86,996,093...87,006,776
|
|
|
G |
Mir139 |
microRNA 139 |
|
ISO |
RNA:decreased expression:brain: |
RGD |
PMID:26449464 |
RGD:13838722 |
NCBI chr 1:166,589,545...166,589,612
Ensembl chr 1:166,589,545...166,589,612
|
|
|
G |
Adam3a |
ADAM metallopeptidase domain 3A |
|
ISO |
DNA:deletion |
RGD |
PMID:21138945 |
RGD:13831351 |
NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP IDA |
|
RGD |
PMID:27255231, PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP IDA |
|
RGD |
PMID:27255231, PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Bst2 |
bone marrow stromal cell antigen 2 |
|
ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
|
|
G |
Casp3 |
caspase 3 |
treatment |
IDA |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
|
|
G |
Fadd |
Fas associated via death domain |
treatment |
IEP |
|
RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
|
|
G |
Fas |
Fas cell surface death receptor |
treatment |
IDA |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
|
|
G |
Faslg |
Fas ligand |
treatment |
IDA |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
|
|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
IEP |
|
RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
|
|
|
G |
Acrbp |
acrosin binding protein |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
|
|
NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
|
|
G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neoplasm of brain |
CTD ClinVar |
PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:21242967 PMID:21838707 PMID:22071890 PMID:22072639 PMID:22986231 PMID:25741868 PMID:26619011 |
|
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
|
|
G |
Amot |
angiomotin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr X:116,751,231...116,810,238
Ensembl chr X:116,751,230...116,792,864
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain tumor |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31779674 PMID:31891627 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Ccnd1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 PMID:27935819 |
|
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
|
|
G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
|
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 |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15144691 PMID:16860786 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:25157968 PMID:26619011 PMID:26822237 |
|
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
|
|
G |
Cyp2c11 |
cytochrome P450, subfamily 2, polypeptide 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16475710 |
|
NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
|
|
G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17319784 |
|
NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
|
|
G |
Dll1 |
delta like canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
|
|
G |
Dtx2 |
deltex E3 ubiquitin ligase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr12:23,687,958...23,727,594
Ensembl chr12:23,687,966...23,727,564
|
|
G |
Dut |
deoxyuridine triphosphatase |
severity |
ISO |
protein:increased expression:tumor (human) |
RGD |
PMID:16325515 |
RGD:5133680 |
NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:17177598 PMID:26619011 |
|
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
|
|
G |
Eml4 |
EMAP like 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22986231 |
|
NCBI chr 6:6,618,370...6,674,550
Ensembl chr 6:6,619,076...6,674,554
|
|
G |
Fjx1 |
four-jointed box kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 3:92,288,818...92,290,919
Ensembl chr 3:92,288,818...92,290,919
|
|
G |
H3f3a |
H3.3 histone A |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:26619011 |
|
NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
|
|
G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain tumor |
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 |
|
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 |
|
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6319491 |
|
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
|
|
G |
Iqgap1 |
IQ motif containing GTPase activating protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 1:142,525,041...142,615,673
Ensembl chr 1:142,525,046...142,615,673
|
|
G |
Iqgap2 |
IQ motif containing GTPase activating protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 2:26,161,628...26,439,067
Ensembl chr 2:26,167,199...26,438,790
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20131314, PMID:19274096 |
RGD:2317681 |
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
|
|
G |
Nrarp |
Notch-regulated ankyrin repeat protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 3:2,396,143...2,398,697
Ensembl chr 3:2,396,143...2,398,689
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain tumor |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 |
|
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
|
|
G |
Pcna |
proliferating cell nuclear antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
|
NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain tumor |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 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:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 |
|
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:19962457 PMID:25157968 PMID:26619011 |
|
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
|
|
G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
|
ISO |
|
RGD |
PMID:10763829 |
RGD:1599141 |
NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002382 |
|
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
|
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain tumor |
ClinVar |
PMID:9259288 PMID:9399897 PMID:9467011 PMID:9619835 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:10866302 PMID:10923032 PMID:11274365 PMID:11504908 PMID:11685670 PMID:14518070 PMID:16773562 PMID:17286265 PMID:17392703 PMID:17526800 PMID:17526801 PMID:18767981 PMID:19265751 PMID:20085938 PMID:20533527 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22266152 PMID:22381246 PMID:22628360 PMID:23335809 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23633456 PMID:23695273 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24345843 PMID:24721394 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26467025 PMID:27477328 PMID:27959697 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29874181 PMID:30287823 PMID:32238909 |
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain tumor |
ClinVar |
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
|
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
|
|
G |
S100b |
S100 calcium binding protein B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
|
|
G |
Sirt1 |
sirtuin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22523472 |
|
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
|
|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
|
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21749277 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
|
|
G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
|
|
G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16651633 |
|
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
|
|
G |
Tgm2 |
transglutaminase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16170020 |
|
NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain tumor ClinVar Annotator: match by term: Neoplasm of brain ClinVar Annotator: match by term: Brain neoplasm |
CTD ClinVar |
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9472631 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10797439 PMID:10864200 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16860786 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21470402 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22672556 PMID:22713868 PMID:22811390 PMID:22847613 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23340422 PMID:23355100 PMID:23406775 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25587027 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27149858 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29416011 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30087429 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079 PMID:32401780 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:10205261 PMID:10533067 PMID:10735580 PMID:11208653 PMID:11603814 PMID:12136241 PMID:15798777 PMID:16114042 PMID:17304050 PMID:18854862 PMID:21309039 PMID:24033266 PMID:25741868 PMID:26467025 |
|
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
|
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
|
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
|
|
|
G |
Pax3 |
paired box 3 |
|
ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
|
|
G |
Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
|
RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
|
|
|
G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098593 |
|
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
|
|
G |
Cdk6 |
cyclin-dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098593 |
|
NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098593 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880341 |
|
NCBI chr10:72,909,550...72,945,884
Ensembl chr10:72,909,550...72,945,884
|
|
|
G |
Alb |
albumin |
|
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
|
|
G |
Eno2 |
enolase 2 |
|
ISO |
|
RGD |
PMID:17345775 |
RGD:2293739 |
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
|
|
G |
Men1 |
menin 1 |
|
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
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
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
|
|
G |
Mir10a |
microRNA 10a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr10:84,165,950...84,166,059
Ensembl chr10:84,165,950...84,166,059
|
|
G |
Mir127 |
microRNA 127 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
|
|
G |
Mir136 |
microRNA 136 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,716,761...133,716,842
Ensembl chr 6:133,716,761...133,716,842
|
|
G |
Mir146a |
microRNA 146a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
|
|
G |
Mir154 |
microRNA 154 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
|
|
G |
Mir155 |
microRNA 155 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
|
|
G |
Mir193a |
microRNA 193a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr10:67,065,885...67,065,996
Ensembl chr10:67,065,885...67,065,996
|
|
G |
Mir222 |
microRNA 222 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr X:3,683,919...3,684,021
Ensembl chr X:3,683,919...3,684,021
|
|
G |
Mir224 |
microRNA 224 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr X:152,223,754...152,223,835
Ensembl chr X:152,223,754...152,223,835
|
|
G |
Mir30a |
microRNA 30a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
|
|
G |
Mir34b |
microRNA 34b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
|
|
G |
Mir34c |
microRNA 34c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
|
|
G |
Mir370 |
microRNA 370 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,739,916...133,739,994
Ensembl chr 6:133,739,916...133,739,994
|
|
G |
Mir409 |
microRNA 409 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,893,419...133,893,495
|
|
G |
Mir410 |
microRNA 410 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
|
|
G |
Mir487b |
microRNA 487b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,877,124...133,877,205
Ensembl chr 6:133,877,124...133,877,205
|
|
G |
Mir494 |
microRNA 494 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:133,864,370...133,864,452
Ensembl chr 6:133,864,369...133,864,453
|
|
G |
Reg1a |
regenerating family member 1 alpha |
|
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
|
|
|
G |
Dhfr |
dihydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
|
|
NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
|
|
G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
|
|
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
|
|
G |
Msh3 |
mutS homolog 3 |
|
ISO |
ClinVar Annotator: match by term: Cavernous Sinus Meningioma |
ClinVar |
|
|
NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
|
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
DNA:SNP:promoter:-1082G>A (human) |
RGD |
PMID:22628023 |
RGD:7364831 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
|
G |
Bap1 |
Brca1 associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25231345 |
|
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
|
|
G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Neoplasm of the central nervous system |
ClinVar |
PMID:25741868 |
|
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26192916 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
|
|
|
G |
Msh6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
|
|
NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
|
|
|
G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
|
|
G |
Ccm2 |
CCM2 scaffold protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation |
CTD ClinVar |
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 |
|
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
|
|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
|
|
G |
Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by OMIM:116860 |
ClinVar OMIM |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:14755725, PMID:15079030 |
RGD:1358458, RGD:1598379 |
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
|
|
G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
|
|
G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
|
|
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
|
|
|
G |
Krit1 |
KRIT1, ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 1 |
ClinVar OMIM |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
|
|
|
G |
Ccm2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 2 |
OMIM ClinVar |
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:32860008 |
|
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
|
|
G |
Nacad |
NAC alpha domain containing |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
|
NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
|
|
|
G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
OMIM ClinVar |
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 |
|
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
ClinVar |
PMID:18060436 PMID:20623299 PMID:28492532 |
|
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
|
|
|
G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 |
|
NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
|
|
G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
|
|
|
G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 |
|
NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
|
|
G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
|
|
|
G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 |
ClinVar OMIM |
PMID:27432940 |
|
NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
|
|
|
G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
|
|
|
G |
Foxo3 |
forkhead box O3 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
|
NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
|
|
G |
Nf2 |
neurofibromin 2 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
|
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
|
|
G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
|
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:18762572 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25925845 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:31775759 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Papilloma of choroid plexus ClinVar Annotator: match by OMIM:260500 |
OMIM ClinVar |
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8198984 PMID:8203469 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:9865903 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11040944 PMID:11101847 PMID:11139324 PMID:11391594 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12085209 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15173255 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17224268 PMID:17289876 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17727479 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19367569 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21512767 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22652532 PMID:22698404 PMID:22710932 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23792586 PMID:23894400 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24728327 PMID:24810334 PMID:24868540 PMID:25157968 PMID:25527155 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26086041 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28125078 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28772286 PMID:28861920 PMID:29478780 PMID:29489754 PMID:29945567 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30374176 PMID:30816478 PMID:30883245 PMID:31016814 PMID:31159747 PMID:31775759 PMID:32000721 |
|
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
|
|
|
G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
|
|
G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
|
|
G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
|
|
G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
|
|
G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
|
|
G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
|
|
G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
|
|
G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
|
|
G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
|
|
G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,634,815...93,644,146
|
|
G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
|
|
G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
|
|
G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
|
|
G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
|
|
G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
|
|
G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
|
|
G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
|
|
G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
|
|
G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
|
|
G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
|
|
G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
|
|
G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
|
|
G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
|
|
G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
|
|
G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
|
|
G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,384,632...87,390,627
|
|
G |
Klf12 |
Kruppel-like factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
|
|
G |
Klf5 |
Kruppel-like factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
|
|
G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
|
|
G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
|
|
G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
|
|
G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
|
|
G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
|
|
G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,405,472...87,450,812 NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
|
|
G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
|
|
G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
|
|
G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
|
|
G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
|
|
G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
|
|
G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
|
|
G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
|
|
G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
|
|
G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
|
|
G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
|
|
G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
|
|
G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
|
|
G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
|
|
G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
|
|
G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
|
|
G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
|
|
G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
|
|
G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
|
|
G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
|
|
G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
|
|
G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
|
|
G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103 Ensembl chr15:39,712,861...39,742,103
|
|
G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
|
|
G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
|
|
G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
|
|
G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
|
|
G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
|
|
G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
|
|
G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
|
|
G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
|
|
G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
|
|
G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
|
|
G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
|
|
G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
|
|
G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
|
|
G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
|
|
|
G |
Rnf135 |
ring finger protein 135 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 |
|
NCBI chr10:67,531,989...67,551,237
|
|
|
G |
Clcc1 |
chloride channel CLIC-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:211,450,426...211,479,885
Ensembl chr 2:211,450,484...211,479,884
|
|
G |
Gpsm2 |
G-protein signaling modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar Annotator: match by term: GPSM2-Related Disorders CTD Direct Evidence: marker/mechanism DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); ClinVar Annotator: match by OMIM:604213 |
OMIM ClinVar CTD |
PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:28492532, PMID:22578326 |
RGD:11062393 |
NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
|
|
|
G |
Adam3a |
ADAM metallopeptidase domain 3A |
|
ISO |
DNA, mRNA:amplification, increase expression |
RGD |
PMID:25491297 |
RGD:13831354 |
NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
|
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
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 |
|
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
|
|
G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413733 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
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 |
|
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
|
|
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 |
|
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
G |
Pdgfra |
platelet derived growth factor receptor alpha |
disease_progression |
ISO |
|
RGD |
PMID:20190664 |
RGD:11080971 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
|
|
G |
Phox2b |
paired-like homeobox 2b |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 |
|
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
|
|
G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
|
|
G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:22161988 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
|
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Culler-Jones syndrome ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2 |
OMIM ClinVar |
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:25741868 PMID:31292255 |
|
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
|
|
|
G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: B-K MOLE SYNDROME |
ClinVar |
PMID:10201537 PMID:10208439 PMID:25157968 |
|
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
|
|
|
G |
Acvr1 |
activin A receptor type 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 |
|
NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
|
|
G |
Brip1 |
BRCA1 interacting protein C-terminal helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 |
|
NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
|
|
G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:27083775 PMID:27153395 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:32295079 |
|
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
|
G |
Men1 |
menin 1 |
|
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
|
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
|
G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
|
ISO |
protein:increased expression:ovary |
RGD |
PMID:17988723 |
RGD:2315651 |
NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
|
|
G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29907814 PMID:30078507 PMID:30130155 |
|
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
associated with Acrocephalosyndactylia (MeSH:D000168) |
RGD |
PMID:17243131 |
RGD:2289660 |
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
|
|
G |
Inha |
inhibin subunit alpha |
|
ISO |
|
RGD |
PMID:11720904 |
RGD:2290380 |
NCBI chr 9:82,700,482...82,703,383
Ensembl chr 9:82,700,468...82,703,400
|
|
G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532, PMID:10362788 |
RGD:2292181 |
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
|
|
G |
Pou5f1 |
POU class 5 homeobox 1 |
|
ISO |
|
RGD |
PMID:15371950 |
RGD:2292443 |
NCBI chr20:3,747,231...3,751,994
Ensembl chr20:3,747,221...3,751,994
|
|
G |
Set |
SET nuclear proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:26822237 |
|
NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504
|
|
G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
protein:increased expression:ovary |
RGD |
PMID:16439987 |
RGD:2315091 |
NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
|
|
|
G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 1:199,112,192...199,159,125
Ensembl chr 1:199,155,296...199,159,125
|
|
G |
Ephb2 |
Eph receptor B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 5:155,024,478...155,143,539
Ensembl chr 5:155,022,493...155,204,456
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
|
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
|
|
G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
|
|
G |
Palb2 |
partner and localizer of BRCA2 |
|
ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:21285249 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 |
|
NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
|
|
G |
Rab3a |
RAB3A, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr16:20,435,098...20,439,206
Ensembl chr16:20,435,101...20,439,206
|
|
G |
Rnf213 |
ring finger protein 213 |
|
ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
|
NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
|
|
G |
Rtbdn |
retbindin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr19:26,065,784...26,073,194
Ensembl chr19:26,066,127...26,073,194
|
|
G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:28492532 PMID:29365323 |
|
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
|
|
G |
Shc3 |
SHC adaptor protein 3 |
|
ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chr17:13,670,520...13,791,043
Ensembl chr17:13,670,520...13,791,043
|
|
G |
Zfp668 |
zinc finger protein 668 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
|
|
|
G |
Acss1 |
acyl-CoA synthetase short-chain family member 1 |
treatment |
ISO |
|
RGD |
PMID:27539851 |
RGD:13831304 |
NCBI chr 3:146,420,346...146,470,293
Ensembl chr 3:146,420,346...146,470,293
|
|
G |
Acss2 |
acyl-CoA synthetase short-chain family member 2 |
treatment |
ISO |
|
RGD |
PMID:27539851 |
RGD:13831304 |
NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
|
|
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
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29179997 PMID:29438700 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Calr |
calreticulin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16388313 |
|
NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Ifnb1 |
interferon beta 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16417267 |
|
NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
|
|
G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
ISO |
|
RGD |
PMID:19276165 |
RGD:7495758 |
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
|
RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr19:56,215,420...56,219,987
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
G |
Ace |
angiotensin I converting enzyme |
|
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
|
|
G |
Cand2 |
cullin-associated and neddylation-dissociated 2 (putative) |
|
ISO |
|
RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
|
|
|
G |
Aip |
aryl-hydrocarbon receptor-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar Annotator: match by term: Pituitary adenoma, familial isolated |
ClinVar |
PMID:26186299 |
|
NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
|
|
G |
Gnai2 |
G protein subunit alpha i2 |
|
ISO |
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
|
|
|
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
|
|
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 |
|
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
|
|
G |
Prlr |
prolactin receptor |
|
ISS |
OMIM:155240 |
MouseDO |
|
|
NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
|
|
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:3078962 PMID:3697657 PMID:7633441 PMID:7647787 PMID:7784092 PMID:7824936 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7907913 PMID:7911697 PMID:7915165 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8625130 PMID:8675603 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8918855 PMID:9003111 PMID:9090527 PMID:9111992 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9498388 PMID:9506724 PMID:9681851 PMID:9681852 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9839497 PMID:9879991 PMID:10024437 PMID:10076558 PMID:10235148 PMID:10323403 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10777380 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11454140 PMID:11524247 PMID:11562352 PMID:11589684 PMID:11739416 PMID:11900218 PMID:11932300 PMID:11935126 PMID:12000816 PMID:12116277 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: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:17178962 PMID:17188172 PMID:17209045 PMID:17483988 PMID:17610518 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18805915 PMID:19138318 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20739875 PMID:20833330 PMID:20979234 PMID:20981092 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22068382 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22965292 PMID:22995991 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23461807 PMID:23527089 PMID:23723040 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 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:26247112 PMID:26269449 PMID:26356818 PMID:26467025 PMID:27153395 PMID:27673361 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28946813 PMID:28951487 PMID:29097883 PMID:29408964 PMID:29656518 PMID:29684080 PMID:30644554 PMID:30927507 PMID:31510104 |
|
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
|
|
|
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:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 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: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 |
|
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: 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 Annotator: match by term: Cutaneous malignant melanoma 5 |
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:8841025 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9439668 PMID:9473234 PMID:9516223 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 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:11113205 PMID:11136714 PMID:11156381 PMID:11319798 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:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 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:16397522 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17276542 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 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: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: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: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:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29961768 PMID:29983899 PMID:30038052 PMID:30207590 PMID:30274933 PMID:30303537 PMID:30339520 PMID:30709382 PMID:30967399 PMID:31382929 PMID:31775759 PMID:31921681 PMID:32113160 PMID:109563903 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
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: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:28242083 PMID:28492532 PMID:29340229 |
|
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:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25741868 PMID:25877891 PMID:27239034 PMID:27329137 PMID:27528712 PMID:27869160 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29693246 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 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:56,136,904...56,175,500
Ensembl chr19:56,136,904...56,175,500
|
|
G |
Tcf25 |
transcription factor 25 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:56,178,905...56,213,299
Ensembl chr19:56,179,111...56,213,310
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 |
ClinVar OMIM |
PMID:23348503 |
|
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
|
|
G |
Tspan31 |
tetraspanin 31 |
|
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 |
|
NCBI chr 7:70,352,679...70,355,555
Ensembl chr 7:70,352,251...70,355,619
|
|
G |
Tyr |
tyrosinase |
|
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 |
|
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
|
|
G |
Xrcc3 |
X-ray repair cross complementing 3 |
|
ISO |
ClinVar Annotator: match by OMIM:613972 |
ClinVar OMIM |
PMID:11059748 |
|
NCBI chr 6:136,366,917...136,380,751
Ensembl chr 6:136,371,555...136,379,348
|
|
|
G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
|
|
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 |
|
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
|
|
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 |
|
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
|
|
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:30287823 PMID:30311380 PMID:32238909 |
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
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:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28492532 |
|
NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
|
|
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 |
|
NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
|
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
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
|
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
|
|
|
G |
Bap1 |
Brca1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Childhood ganglioglioma |
ClinVar |
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:7607663 PMID:16835897 PMID:16944272 PMID:19738042 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 |
|
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
|
|
|
G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Ganglioneuroblastoma |
ClinVar |
PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
|
|
G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Ganglioneuroblastoma |
ClinVar |
PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 |
|
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Ganglioneuroblastoma |
ClinVar |
PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 |
|
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
|
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
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
|
|
G |
Men1 |
menin 1 |
|
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
|
|
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
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
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
|
|
G |
Slc2a2 |
solute carrier family 2 member 2 |
|
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
|
|
|
G |
Cd53 |
Cd53 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 2:209,489,279...209,537,098
Ensembl chr 2:209,489,279...209,537,087
|
|
G |
Cd86 |
CD86 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
|
|
G |
Ciita |
class II, major histocompatibility complex, transactivator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
|
|
G |
Eomes |
eomesodermin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 8:127,144,367...127,152,618
Ensembl chr 8:127,144,903...127,151,493
|
|
G |
Gata3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
|
|
G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
|
|
G |
Ikzf1 |
IKAROS family zinc finger 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
|
|
G |
Ikzf3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
|
|
G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
|
|
G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 1:81,966,791...82,049,116
Ensembl chr 1:81,964,104...82,004,538
|
|
G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
|
|
G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
|
|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
|
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:missense mutation:exon:p.V600E (human) |
RGD |
PMID:19289622 |
RGD:2315865 |
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Ccnd2 |
cyclin D2 |
|
ISO |
|
RGD |
PMID:17167184 |
RGD:2296039 |
NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
|
ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
|
|
G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
|
ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
|
|
G |
Mgp |
matrix Gla protein |
|
ISO |
|
RGD |
PMID:1399132 |
RGD:2293578 |
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
|
|
G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Germinoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:60,007,587...60,191,973
Ensembl chr 5:60,007,587...60,191,941
|
|
G |
Pdpn |
podoplanin |
|
ISO |
|
RGD |
PMID:16718353 |
RGD:2292236 |
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Germinoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
|
|
|
G |
Actr3 |
actin related protein 3 |
|
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:25682201 |
RGD:11570557 |
NCBI chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
|
|
G |
Adgrb1 |
adhesion G protein-coupled receptor B1 |
treatment |
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:16244591, PMID:12507886 |
RGD:13831352, RGD:13831355 |
NCBI chr 7:115,766,484...115,828,514
|
|
G |
Adgrl4 |
adhesion G protein-coupled receptor L4 |
treatment severity |
ISO IEP |
|
RGD |
PMID:27416955, PMID:23096411, PMID:23096411 |
RGD:13838664, RGD:13838665, RGD:13838665 |
NCBI chr 2:256,609,787...256,724,642
Ensembl chr 2:256,609,787...256,724,641
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
|
RGD |
PMID:10802656 |
RGD:734543 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
|
|
G |
Akt3 |
AKT serine/threonine kinase 3 |
disease_progression |
ISO |
|
RGD |
PMID:27422127 |
RGD:13674164 |
NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7661930 |
|
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:18636190 |
RGD:13439742 |
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
|
|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 |
|
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
|
|
G |
Atrx |
ATRX, chromatin remodeler |
disease_progression |
ISO |
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
ClinVar |
PMID:27478330 |
RGD:13442489 |
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
|
|
G |
Bag3 |
BAG cochaperone 3 |
treatment |
IMP |
|
RGD |
PMID:21561597 |
RGD:5687132 |
NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
|
|
G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2317787 |
|
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
|
|
G |
Becn1 |
beclin 1 |
disease_progression |
ISO |
|
RGD |
PMID:20863706 |
RGD:6483102 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
|
|
G |
Bhlhe40 |
basic helix-loop-helix family, member e40 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
|
NCBI chr 4:140,703,619...140,709,319
Ensembl chr 4:140,703,619...140,709,319
|
|
G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19823589 |
|
NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 |
|
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
|
|
G |
Brd2 |
bromodomain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27388964 |
|
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
|
|
G |
Brd4 |
bromodomain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26455392 PMID:27388964 |
|
NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
|
|
G |
Brd7 |
bromodomain containing 7 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
|
|
G |
Cbx6 |
chromobox 6 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 7:121,047,996...121,058,109
Ensembl chr 7:121,050,302...121,058,029
|
|
G |
Cbx7 |
chromobox 7 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
|
|
G |
Cbx8 |
chromobox 8 |
|
ISO |
mRNA:increased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
|
|
G |
Ccnh |
cyclin H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
|
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
|
|
G |
Cd9 |
CD9 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26573230 |
|
NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
|
|
G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
|
|
G |
Cdk6 |
cyclin-dependent kinase 6 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20534551, PMID:10884881 |
RGD:13702095 |
NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
|
|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
|
RGD |
PMID:10720483 |
RGD:8552659 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
treatment |
ISO |
|
RGD |
PMID:10720483 |
RGD:8552659 |
|
|
G |
Chaf1b |
chromatin assembly factor 1 subunit B |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21029458, PMID:11161003 |
RGD:4892621 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
|
|
G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
disease_progression |
IMP |
|
RGD |
PMID:23360795 |
RGD:9685152 |
NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
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 |
|
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
|
|
G |
Csta |
cystatin A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
|
NCBI chr11:67,555,792...67,566,980
Ensembl chr11:67,555,658...67,566,972
|
|
G |
Cstb |
cystatin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
|
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
|
|
G |
Ctnnd2 |
catenin delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
|
NCBI chr 2:83,227,247...84,094,315
Ensembl chr 2:83,393,282...84,094,315
|
|
G |
Ctsb |
cathepsin B |
|
ISO |
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159, PMID:17898873 |
RGD:2315515 |
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
|
|
G |
Ctsh |
cathepsin H |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:8640738 |
RGD:1549417 |
NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
|
|
G |
Ctsk |
cathepsin K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25356585 |
|
NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
|
|
G |
Deup1 |
deuterosome assembly protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
|
NCBI chr 8:14,094,742...14,157,232
Ensembl chr 8:14,094,732...14,157,141
|
|
G |
Dmbt1 |
deleted in malignant brain tumors 1 |
|
ISO |
DNA:deletion |
RGD |
PMID:9288095 |
RGD:1599778 |
NCBI chr 1:201,620,642...201,689,905 NCBI chr 1:203,149,414...203,228,705
|
|
G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
|
|
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
|
|
G |
Dusp6 |
dual specificity phosphatase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499306 |
|
NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
|
|
G |
E2f1 |
E2F transcription factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:16264179 |
RGD:13702471 |
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
|
|
G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human) |
CTD |
PMID:16598420, PMID:22481252 |
RGD:13702472 |
NCBI chr 2:68,820,616...68,895,537
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
CTD ClinVar |
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 |
|
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
|
|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:21195542 |
RGD:13204719 |
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
|
|
G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
treatment |
|