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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:nervous system benign neoplasm
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Accession:DOID:0060115 term browser browse the term
Definition:An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


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acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
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
JBrowse link
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
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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: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
JBrowse link
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
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:30311386 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:30311386 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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:30311386, 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Papilloma of choroid plexus
ClinVar Annotator: match by term: Choroid plexus papilloma
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:30883245, PMID:31016814, PMID:31159747, PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway 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
JBrowse link
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
JBrowse link
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
JBrowse link
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 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
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
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
ganglioglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
malignant peripheral nerve sheath tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm4b lysine demethylase 4B ISO DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874, PMID:27139419 NCBI chr 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
JBrowse link
neurilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad5 ATPase family, AAA domain containing 5 ISO mRNA:increased expression:neural tissue (human) RGD PMID:20844836 RGD:11552594 NCBI chr10:67,427,042...67,475,825
Ensembl chr10:67,427,066...67,473,649
JBrowse link
G Axl Axl receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 1:82,550,892...82,580,761
Ensembl chr 1:82,549,420...82,580,761
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA,protein:deletion,decreased expression: : RGD PMID:10595918 RGD:1358481 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 1:154,189,252...154,216,340
Ensembl chr 1:154,189,260...154,216,340
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Six1 SIX homeobox 1 ISO mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannoma ClinVar PMID:18647326, PMID:22434358, PMID:22949514, PMID:24933152, PMID:25741868, PMID:28492532, PMID:29517885 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
G Snca synuclein alpha IEP protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 susceptibility ISO ClinVar Annotator: match by OMIM:615670
ClinVar Annotator: match by term: Schwannomatosis
ClinVar Annotator: match by term: Schwannomatosis 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16356934, PMID:18072270, PMID:19582488, PMID:22105938, PMID:23401320, PMID:24362817, PMID:25335493, PMID:25480913, PMID:25741868, PMID:25795793, PMID:27472264, PMID:27856782, PMID:27921248, PMID:28295212, PMID:28492532, PMID:29384852, PMID:29409008, PMID:30368668, PMID:30442762, PMID:30442766, PMID:30481304, PMID:30859559, PMID:31128261, PMID:31219622, PMID:31438995, PMID:31825158 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
OMIM
ClinVar
PMID:7798645, PMID:9399891, PMID:25741868 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC
OMIM
ClinVar
CTD
PMID:17357086, PMID:18285426, PMID:18414213, PMID:18647326, PMID:19124645, PMID:19582488, PMID:20930055, PMID:22038540, PMID:22434358, PMID:22949514, PMID:24362817, PMID:24728327, PMID:24933152, PMID:25741868, PMID:26073604, PMID:28492532, PMID:29517885 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
neurofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:101000
OMIM
ClinVar
CTD
PMID:4000972, PMID:7535084, PMID:7666400, PMID:7711726, PMID:7759081, PMID:7868131, PMID:7913580, PMID:7951231, PMID:8012353, PMID:8081368, PMID:8230593, PMID:8379998, PMID:8566958, PMID:8751853, PMID:8755919, PMID:8757035, PMID:8797533, PMID:8882871, PMID:8889506, PMID:9466988, PMID:9643284, PMID:9718334, PMID:9817921, PMID:9817927, PMID:9884492, PMID:10691417, PMID:10712203, PMID:10777666, PMID:11085592, PMID:11668501, PMID:11756419, PMID:11809806, PMID:12118253, PMID:12136076, PMID:12566519, PMID:12807969, PMID:15635074, PMID:15645494, PMID:15684865, PMID:15692946, PMID:16532029, PMID:16983642, PMID:18033041, PMID:18173316, PMID:18670066, PMID:18766994, PMID:19968670, PMID:20553997, PMID:20831745, PMID:21671232, PMID:22012890, PMID:22081132, PMID:22295085, PMID:22325036, PMID:22703879, PMID:22711605, PMID:24033266, PMID:24595234, PMID:24728327, PMID:24815379, PMID:25326635, PMID:25525159, PMID:25567352, PMID:25741868, PMID:25798586, PMID:25931164, PMID:26031996, PMID:26045165, PMID:26066488, PMID:26073919, PMID:26332594, PMID:26343386, PMID:26407091, PMID:26467025, PMID:27128293, PMID:27704245, PMID:28492532, PMID:29409008, PMID:29489754, PMID:30311386, PMID:31273341, PMID:31370276 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
subependymal giant cell astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:10227394, PMID:10363127, PMID:10533067, PMID:15798777, PMID:17304050, PMID:18032745, PMID:26540169, PMID:28492532, PMID:30311386 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      benign neoplasm 972
        organ system benign neoplasm 466
          nervous system benign neoplasm 90
            central nervous system benign neoplasm + 53
            neuroma + 38
            peripheral nervous system benign neoplasm + 0
            sensory organ benign neoplasm + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.