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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:organ system benign neoplasm
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Accession:DOID:0060085 term browser browse the term
Definition:A benign neoplasm that is classified by the organ system from which it is arising from. (DO)
Synonyms:primary_id: RDO:9002412
 alt_id: DOID:1789
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 chrNW_004936474:25,252,510...25,254,221 JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chrNW_004936476:22,717,308...22,725,127 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 chrNW_004936706:1,816,561...1,829,638 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chrNW_004936710:1,760,365...1,815,269 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Igf1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chrNW_004936486:19,691,822...19,702,684 JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chrNW_004936657:3,536,212...3,622,999 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
ACTH-secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chrNW_004936557:6,415,544...6,423,863 JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chrNW_004936697:1,054,237...1,061,468 JBrowse link
G LOC101969608 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 More... NCBI chrNW_004936599:2,274,451...2,280,486 JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO OMIM NCBI chrNW_004936471:12,463,189...12,524,148 JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chrNW_004936627:1,555,151...1,584,370 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chrNW_004936809:396,883...466,372 JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chrNW_004936659:2,750,015...2,765,914 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chrNW_004936608:1,353,905...1,464,636 JBrowse link
Aggressive Fibromatosis 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 CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO OMIM NCBI chrNW_004936565:5,210,014...5,299,213 JBrowse link
G Pax3 paired box 3 ISO OMIM NCBI chrNW_004936569:4,215,513...4,307,815 JBrowse link
G Pax7 paired box 7 ISO OMIM NCBI chrNW_004936474:5,045,284...5,131,859 JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chrNW_004936737:171,894...211,464 JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004936758:101,629...225,496 JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chrNW_004936594:5,478,947...5,516,320 JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chrNW_004936718:31,946...55,822 JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 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: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004936803:1,393,918...1,423,086 JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936621:2,088,606...2,128,579 JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chrNW_004936631:3,721,307...3,785,346 JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004936712:885,301...891,247 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936721:1,118,376...1,125,282 JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chrNW_004936515:4,056,214...4,066,121 JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chrNW_004936662:1,689,879...1,696,883 JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936473:27,672,237...27,676,339 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936745:152,571...163,712 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936668:2,602,261...2,687,903 JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936709:864,206...884,630 JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936554:3,370,766...3,388,125 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tlr7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936470:2,593,544...2,610,972 JBrowse link
G Tlr8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936470:2,638,020...2,642,201 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chrNW_004936737:1,905,307...1,910,356 JBrowse link
anus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12170190 PMID:12397731 NCBI chrNW_004936652:2,736,270...2,736,833 JBrowse link
appendiceal neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nap1l1 nucleosome assembly protein 1 like 1 severity ISO mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chrNW_004936568:4,416,225...4,440,566 JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chrNW_004936740:1,295,299...1,298,441 JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chrNW_004936615:4,472,261...4,524,537 JBrowse link
G Arrb1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004936498:4,089,621...4,172,749 JBrowse link
G Arrb2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004936677:3,173,054...3,181,475 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chrNW_004936569:1,807,902...1,814,936 JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chrNW_004936602:1,488,993...1,496,108 JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO RGD PMID:11062473 RGD:1300250 NCBI chrNW_004936512:9,364,551...9,379,131 JBrowse link
G Eng endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chrNW_004936543:794,837...811,637 JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chrNW_004936537:6,778,317...6,827,384 JBrowse link
G Map2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chrNW_004936845:475,406...752,600 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chrNW_004936469:5,839,560...5,933,049 JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chrNW_004936611:2,420,176...2,531,726 JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936469:8,653,031...9,209,840 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 More... NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936550:6,885,484...7,067,001 JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Eng endoglin disease_progression ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
DNA:polymorphism: : 207G>A(human)
RGD
ClinVar
PMID:16179574 PMID:24520391 PMID:24876084 PMID:25741868 RGD:11041171 RGD:11041564 RGD:1580962 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760 JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chrNW_004936473:7,447,292...7,507,819 JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO OMIM NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936545:3,385,821...3,453,861 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 chrNW_004936713:515,388...616,024 JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:19546852 RGD:6480671 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936593:4,650,624...4,693,387 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936677:1,451,974...1,528,864 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 chrNW_004936496:6,005,410...6,284,332 JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936704:747,109...766,981 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 chrNW_004936528:8,981,079...9,060,033 JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936492:6,836,441...7,253,867 JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936492:6,996,627...7,046,137 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936549:8,082,464...8,110,116 JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chrNW_004936566:3,924,013...3,951,052 JBrowse link
G Pten phosphatase and tensin homolog ISO OMIM NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chrNW_004936474:3,993,224...4,021,359 JBrowse link
bile duct adenoma 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:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B susceptibility ISO DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chrNW_004936551:359,134...534,672 JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chrNW_004936473:26,556,636...26,600,830 JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar NCBI chrNW_004936508:4,943,987...5,013,356 JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936694:1,923,383...1,958,160 JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:26467025 PMID:28492532 NCBI chrNW_004936889:231,373...250,985 JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936588:579,816...601,033 JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chrNW_004936483:1,814,870...2,045,802 JBrowse link
Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate beta-hydroxylase ISO mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chrNW_004936496:11,604,992...11,815,680 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chrNW_004936765:609,894...619,417 JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chrNW_004936589:2,280,803...2,390,179 JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase severity ISO protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chrNW_004936486:16,744,607...16,923,209 JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chrNW_004936588:5,506,683...5,586,450 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326076 RGD:2326077 NCBI chrNW_004936612:1,262,557...1,556,281 JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chrNW_004936474:9,751,946...9,802,910 JBrowse link
biliary tract benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chrNW_004936474:22,611,037...22,633,208 JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936567:2,494,645...2,500,361 JBrowse link
G Faslg Fas ligand ISO associated with Biliary Tract Disease;protein:decreased expression:serum RGD PMID:15138553 PMID:15287856 RGD:2317742 RGD:2317743 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G LOC101972142 methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chrNW_004936652:3,431,588...3,468,770 JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chrNW_004936545:6,709,903...6,732,334 JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936608:1,353,905...1,464,636 JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101963041 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004936526:2,835,002...2,842,328 JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b Wnt family member 7B ISO mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas RGD PMID:8168088 RGD:2291878 NCBI chrNW_004936629:3,869,976...3,907,932 JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chrNW_004936550:2,983,172...3,032,222 JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chrNW_004936469:5,933,163...5,952,190 JBrowse link
G LOC101962200 STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chrNW_004936556:143,483...174,383 JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
DNA:mutations:multiple (human)
CTD
ClinVar
RGD
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chrNW_004936469:5,839,560...5,933,049 JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chrNW_004936469:5,933,163...5,952,190 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO OMIM NCBI chrNW_004936469:5,839,560...5,933,049 JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO OMIM NCBI chrNW_004936543:794,837...811,637 JBrowse link
G Slc12a9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar PMID:25741868 PMID:28687708 NCBI chrNW_004936543:828,029...837,998 JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chrNW_004936815:1,148,963...1,167,585 JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chrNW_004936474:3,993,224...4,021,359 JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chrNW_004936903:592,641...636,845 JBrowse link
Carney-Stratakis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,554,158...2,661,896 JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,922,611...2,959,253 JBrowse link
G Colca2 colorectal cancer associated 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:3,098,426...3,106,983 JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,532,851...2,536,473 JBrowse link
G CUNH11orf1 chromosome unknown C11orf1 homolog ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,550,021...2,554,108 JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,518,908...2,526,691 JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,440,357...2,518,596 JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,395,452...2,437,592 JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,530,827...2,532,148 JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,853,354...2,872,861 JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,371,168...2,382,049 JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,382,172...2,389,877 JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:3,032,015...3,055,015 JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,662,137...2,695,340 JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO OMIM NCBI chrNW_004936474:3,993,224...4,021,359 JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO OMIM NCBI chrNW_004936903:592,641...636,845 JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO OMIM NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chrNW_004936612:2,691,729...2,810,975 JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19454582 PMID:19802898 PMID:28492532 NCBI chrNW_004936612:2,369,273...2,370,968 JBrowse link
Carotid Body Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Carotid body paraganglioma ClinVar PMID:11391796 PMID:12612654 PMID:15066320 PMID:17576205 PMID:19351833 More... NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
cavernous hemangioma 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: Cavernous hemangioma ClinVar PMID:25741868 NCBI chrNW_004936478:19,820,092...19,882,358 JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chrNW_004936621:2,088,606...2,128,579 JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chrNW_004936469:5,933,163...5,952,190 JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chrNW_004936469:5,839,560...5,933,049 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:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004936621:2,247,082...2,374,407 JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chrNW_004936803:1,393,918...1,423,086 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 chrNW_004936478:19,820,092...19,882,358 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Krit1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
RGD
ClinVar
CTD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1358458 RGD:1598379 NCBI chrNW_004936621:2,088,606...2,128,579 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G Lrrd1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004936621:2,143,287...2,164,010 JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chrNW_004936593:4,650,624...4,693,387 JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004936593:4,569,183...4,649,901 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 OMIM NCBI chrNW_004936621:2,088,606...2,128,579 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 OMIM NCBI chrNW_004936478:19,820,092...19,882,358 JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chrNW_004936478:19,883,992...19,893,917 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 OMIM NCBI chrNW_004936593:4,650,624...4,693,387 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 chrNW_004936593:4,569,183...4,649,901 JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen-activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chrNW_004936619:1,889,841...1,932,646 JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chrNW_004936636:292,631...341,999 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chrNW_004936554:7,807,914...7,848,691 JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chrNW_004936471:21,274,112...21,329,286 JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:loss of heterozygosity
DNA:hypermethylation:promoter
RGD PMID:10212000 PMID:15467712 RGD:2317198 RGD:2317205 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Asph aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chrNW_004936496:11,604,992...11,815,680 JBrowse link
G Bap1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chrNW_004936473:3,239,009...3,247,806 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Epo erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Epor erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chrNW_004936659:1,468,391...1,473,880 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chrNW_004936490:14,887,062...14,910,038 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association
ISO DNA:SNP: :g.148505302C>T (rs887569) (human)
DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
RGD PMID:24179546 RGD:126779604 NCBI chrNW_004936527:5,024,077...5,069,152 JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936486:10,506,680...10,606,272 JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chrNW_004936765:609,894...619,417 JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO human cell line in a mouse model
DNA:hypermethylation:promoter
RGD PMID:12805482 PMID:15467712 RGD:14401711 RGD:2317198 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chrNW_004936721:757,500...778,416 JBrowse link
G Hgf hepatocyte growth factor ISO mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151 PMID:16974053 RGD:2317909 RGD:2317925 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936950:334,894...349,221 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936483:15,845,777...15,864,341 JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chrNW_004936501:11,025,590...11,058,807 JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15011822 PMID:17621267 PMID:28925763 RGD:14975292 RGD:2317167 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936527:7,310,885...7,508,032 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chrNW_004936512:9,641,587...9,656,573 JBrowse link
G LOC101963142 mucin-3B ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004936543:886,333...904,504 JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17356712 PMID:22561520 RGD:1601377 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chrNW_004936545:6,709,903...6,732,334 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)
RGD PMID:14656942 PMID:16818635 RGD:2317578 RGD:2317601 NCBI chrNW_004936589:2,280,803...2,390,179 JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chrNW_004936486:16,744,607...16,923,209 JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667 RGD:2325769 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:bile duct
mRNA:increased expression:bile duct
RGD PMID:15213623 PMID:16463672 RGD:2324667 RGD:2325856 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased secretion:bile
protein:increased expression:bile duct:
protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chrNW_004936588:5,506,683...5,586,450 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004936816:60,499...91,628 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2303602 RGD:2324944 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:11680592 PMID:14508831 RGD:2324948 RGD:2324990 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chrNW_004936816:174,943...209,241 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chrNW_004936816:882...14,717 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chrNW_004936612:1,262,557...1,556,281 JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16094703 PMID:16818635 RGD:2325280 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chrNW_004936492:13,315,265...13,365,186 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11260864 PMID:11866974 RGD:2317134 RGD:2317136 NCBI chrNW_004936602:3,411,106...3,418,826 JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chrNW_004936755:31,113...120,747 JBrowse link
G Osbpl7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chrNW_004936490:13,491,704...13,506,742 JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chrNW_004936698:650,225...746,593 JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chrNW_004936473:3,382,618...3,476,049 JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936882:577,424...607,691 JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chrNW_004936478:19,669,727...19,673,355 JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936659:2,750,015...2,765,914 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chrNW_004936608:1,353,905...1,464,636 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:23376645 PMID:27022031 RGD:12802341 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16818635 PMID:19621664 RGD:2317180 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chrNW_004936556:4,873,331...4,875,608 JBrowse link
G Rnf43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936490:4,660,904...4,742,669 JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936505:5,544,011...6,747,417 JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chrNW_004936474:9,751,946...9,802,910 JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chrNW_004936596:3,176,009...3,188,637 JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Sox17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chrNW_004936496:1,248,582...1,251,406 JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO protein:increased expression:pancreas RGD PMID:12632524 PMID:16083599 RGD:1299231 RGD:2325020 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chrNW_004936473:21,324,669...21,409,430 JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969 PMID:12213730 PMID:16465407 RGD:2325024 RGD:2325026 RGD:2325027 NCBI chrNW_004936471:3,064,466...3,081,125 JBrowse link
G Tnc tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chrNW_004936487:4,172,263...4,256,780 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chrNW_004936595:919,807...935,367 JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101963257 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004936594:959,493...961,703 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 OMIM NCBI chrNW_004936595:919,807...935,367 JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chrNW_004936566:3,924,013...3,951,052 JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chrNW_004936599:2,031,953...2,068,423 JBrowse link
G Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chrNW_004936490:12,430,343...12,468,794 JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chrNW_004936750:107,689...122,679 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chrNW_004936752:440,137...577,339 JBrowse link
colorectal adenoma 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: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 More... NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Birc7 baculoviral IAP repeat containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chrNW_004936514:10,618,347...10,622,906 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chrNW_004936527:5,024,077...5,069,152 JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chrNW_004936488:4,384,710...4,388,118 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chrNW_004936522:3,034,364...3,037,632 JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO protein:decreased expression:colorectum (human) RGD PMID:28423721 RGD:150429743 NCBI chrNW_004936595:4,762,327...4,828,433 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 PMID:23082052 RGD:13217408 RGD:13217413 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ameliorates ISO RGD PMID:30063920 RGD:150519915 NCBI chrNW_004936473:27,672,237...27,676,339 JBrowse link
G Ptch1 patched 1 ISO RGD PMID:24612059 RGD:150523840 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chrNW_004936602:1,089,979...1,114,376 JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chrNW_004936765:609,894...619,417 JBrowse link
G LOC101972142 methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chrNW_004936652:3,431,588...3,468,770 JBrowse link
G LOC101977033 thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chrNW_004936629:315,609...320,356 JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chrNW_004936784:515,608...539,915 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chrNW_004936816:129,926...159,396 JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chrNW_004936542:2,450,830...2,478,740 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 More... NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chrNW_004936592:4,728,371...4,833,830 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 More... NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936538:3,394,623...3,596,025 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chrNW_004936482:16,804,129...16,853,539 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936600:3,270,662...3,381,722 JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chrNW_004936487:19,331,183...19,386,841 JBrowse link
cystic lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:29456477 More... NCBI chrNW_004936476:25,663,563...25,692,315 JBrowse link
desmoid tumor 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: Desmoid tumor ClinVar PMID:8162051 PMID:15311282 PMID:17293347 PMID:20223039 PMID:20513532 More... NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972142 methylthioadenosine phosphorylase ISO OMIM NCBI chrNW_004936652:3,431,588...3,468,770 JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chrNW_004936599:4,504,489...4,510,085 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 chrNW_004936592:4,728,371...4,833,830 JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004936502:6,764,043...6,812,194 JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chrNW_004936471:3,631,760...3,696,024 JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chrNW_004936528:1,407,187...1,409,683 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011 PMID:26822237 NCBI chrNW_004936668:2,602,261...2,687,903 JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004936596:795,940...898,823 JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936588:579,816...601,033 JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004936551:5,638,383...5,740,523 JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chrNW_004936594:2,812,165...2,820,618 JBrowse link
G Ca9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chrNW_004936524:3,672,393...3,678,630 JBrowse link
G Cdc25b cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chrNW_004936485:14,897,050...14,914,034 JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chrNW_004936531:7,471,722...7,499,781 JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chrNW_004936794:1,023,891...1,025,470 JBrowse link
G Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chrNW_004936704:779,528...803,860 JBrowse link
G Csrp1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chrNW_004936567:2,946,721...2,967,988 JBrowse link
G Ddx1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chrNW_004936493:14,884,532...14,918,621 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G LOC101960169 junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chrNW_004936490:16,671,176...16,694,552 JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chrNW_004936551:5,388,456...5,395,071 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chrNW_004936470:10,379,855...10,578,531 JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chrNW_004936518:5,635,856...5,664,057 JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 More... NCBI chrNW_004936594:2,743,466...2,759,482 JBrowse link
G Tmc8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chrNW_004936594:2,760,649...2,768,438 JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO OMIM NCBI chrNW_004936594:2,743,466...2,759,482 JBrowse link
G Tmc8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:2,760,649...2,768,438 JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel like 8 ISO OMIM NCBI chrNW_004936594:2,760,649...2,768,438 JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 ISO OMIM NCBI chrNW_004936483:15,963,863...15,967,458 JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM
ClinVar
PMID:22850876 NCBI chrNW_004936482:7,721,815...7,723,395 JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chrNW_004936702:110,625...162,957 JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chrNW_004936473:3,239,009...3,247,806 JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chrNW_004936473:3,382,618...3,476,049 JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cand2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chrNW_004936602:987,292...1,008,825 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
familial hepatic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO OMIM NCBI chrNW_004936668:62,103...81,549 JBrowse link
Familial Isolated Pituitary Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pituitary adenoma, familial isolated ClinVar PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More... NCBI chrNW_004936493:3,624,288...3,671,567 JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar PMID:25741868 NCBI chrNW_004936529:1,779,582...1,801,251 JBrowse link
G LOC101969608 aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas
ClinVar PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More... NCBI chrNW_004936599:2,274,451...2,280,486 JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12973667 PMID:14508707 RGD:1599125 NCBI chrNW_004936749:1,936,307...2,014,452 JBrowse link
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chrNW_004936621:265,834...329,255 JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chrNW_004936625:91,229...468,242 JBrowse link
Fibromatosis, Abdominal 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 CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chrNW_004936573:1,567,798...1,662,442 JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chrNW_004936486:13,781,441...13,789,018 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 chrNW_004936473:3,239,009...3,247,806 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 More... NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:7607663 PMID:10712197 PMID:16835897 PMID:16944272 PMID:19738042 More... NCBI chrNW_004936538:3,394,623...3,596,025 JBrowse link
Glomus Jugulare Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
Glomus Tympanicum Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:20030694 RGD:8547978 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO OMIM NCBI chrNW_004936537:6,778,317...6,827,384 JBrowse link
growth hormone secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936513:10,282,683...10,284,206 JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chrNW_004936516:5,551,192...5,578,796 JBrowse link
G LOC101969021 somatotropin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G LOC101969608 aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Somatotroph adenoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 More... NCBI chrNW_004936599:2,274,451...2,280,486 JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Somatotroph adenoma ClinVar PMID:30630164 NCBI chrNW_004936599:4,504,489...4,510,085 JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chrNW_004936552:7,204,298...7,212,632 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr101 G protein-coupled receptor 101 ISO OMIM NCBI chrNW_004936513:10,282,683...10,284,206 JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936470:16,051,291...16,102,563 JBrowse link
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chrNW_004936950:334,894...349,221 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chrNW_004936483:15,845,777...15,864,341 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19821096 RGD:8657063 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Hemangioma ClinVar NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 NCBI chrNW_004936694:1,923,383...1,958,160 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemangioma
CTD
ClinVar
PMID:9286463 PMID:9467011 PMID:21194675 PMID:28492532 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10665907 RGD:12879499 NCBI chrNW_004936474:24,205,878...24,236,611 JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936482:17,727,418...17,744,780 JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chrNW_004936694:1,958,152...1,993,373 JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chrNW_004936551:5,638,383...5,740,523 JBrowse link
hemangioma of liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Hepatic hemangioma ClinVar NCBI chrNW_004936474:17,439,250...17,440,829 JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 ISO associated with tuberous sclerosis;DNA:mutations:multiple RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chrNW_004936694:1,958,152...1,993,373 JBrowse link
hepatocellular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Carm1 coactivator associated arginine methyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chrNW_004936659:1,071,883...1,120,917 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chrNW_004936587:4,573,166...4,578,480 JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Hnf1a HNF1 homeobox A susceptibility
exacerbates
ISO DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
DNA:mutation: (human)
DNA:loss of heterozygosity, mutations:multiple
RGD PMID:12355088 PMID:14598263 PMID:17663417 RGD:14700683 RGD:14700774 RGD:150530291 NCBI chrNW_004936668:62,103...81,549 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chrNW_004936888:375,372...378,125 JBrowse link
G Kras KRAS proto-oncogene, GTPase induced ISO aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G LOC101959212 alpha-2-macroglobulin ISO mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15509519 RGD:1358261 NCBI chrNW_004936870:424,832...468,303 JBrowse link
G LOC101973029 cytochrome P450 2E1 treatment ISO RGD PMID:23543859 RGD:14700918 NCBI chrNW_004936486:19,691,822...19,702,684 JBrowse link
G LOC101976500 haptoglobin ISO RGD PMID:10569800 RGD:1626391 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chrNW_004936492:13,315,265...13,365,186 JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chrNW_004936903:527,838...533,930 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15199412 PMID:27022031 RGD:1302555 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chrNW_004936648:2,636,667...2,650,311 JBrowse link
G Ube2e2 ubiquitin conjugating enzyme E2 E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chrNW_004936473:14,988,802...15,280,650 JBrowse link
hereditary desmoid disease 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 OMIM NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: DESMOID TUMOR CAUSED BY SOMATIC MUTATION ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1459463 PMID:1730412 PMID:7630640 PMID:9536098 PMID:17576681 More... NCBI chrNW_004936495:8,728,941...8,755,742 JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:28492532 NCBI chrNW_004936903:583,942...589,160 JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More... NCBI chrNW_004936815:1,148,963...1,167,585 JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936581:1,607,741...1,628,347 JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chrNW_004936474:3,993,224...4,021,359 JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:17298551 More... NCBI chrNW_004936903:592,641...636,845 JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1945482 PMID:9683583 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20154675 PMID:20923864 More... NCBI chrNW_004936744:344,356...359,086 JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chrNW_004936638:1,424,641...1,434,266 JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004936638:1,365,457...1,482,497 JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chrNW_004936491:13,288,986...13,516,878 JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chrNW_004936739:240,572...281,925 JBrowse link
G Kdr kinase insert domain receptor ISO OMIM NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004936474:24,205,878...24,236,611 JBrowse link
infantile myofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile myofibromatosis
CTD
ClinVar
PMID:12181311 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25292412 More... NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
Infantile Myofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Infantile myofibromatosis 1 ClinVar PMID:23731542 NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
Infantile Myofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO OMIM NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
insulinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:pancreas, plasma RGD PMID:11331218 RGD:2325319 NCBI chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chrNW_004936598:971,253...1,019,043 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chrNW_004936617:4,224,131...4,239,080 JBrowse link
G Ins insulin ISO protein:altered localization:pancreas
protein:altered expression:blood
RGD PMID:2565624 PMID:8175958 RGD:2317266 RGD:2317268 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Men1 menin 1 disease_progression ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons
RGD
CTD
PMID:12941803 PMID:17961653 PMID:19208834 PMID:20138042 RGD:2317288 RGD:2317292 RGD:2317310 NCBI chrNW_004936599:4,504,489...4,510,085 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chrNW_004936612:1,262,557...1,556,281 JBrowse link
G Rps15 ribosomal protein S15 ISO RGD PMID:3019805 RGD:61740 NCBI chrNW_004936588:762,153...763,405 JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO protein:increased expression:pancreatic B cell
mRNA:decreased expression:pancreatic islet
RGD PMID:8421107 PMID:12114701 RGD:2324976 RGD:2324977 NCBI chrNW_004936593:1,572,661...1,605,071 JBrowse link
G Tgfa transforming growth factor alpha ISO protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chrNW_004936491:14,659,089...14,758,614 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
intrahepatic cholangiocarcinoma 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: Intrahepatic Cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26530882 PMID:28492532 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression
exacerbates
ISO protein:decreased expression:intrahepatic bile duct (human)
mRNA,protein:decreased expression:intrahepatic bile duct (human)
RGD PMID:27433094 PMID:30849962 PMID:31665232 RGD:126775257 RGD:126781775 RGD:14974231 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Bap1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chrNW_004936473:3,239,009...3,247,806 JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chrNW_004936490:17,518,100...17,531,126 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase severity ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Foxp3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chrNW_004936721:1,118,376...1,125,282 JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 no_association ISO DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chrNW_004936950:334,894...349,221 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse)
RGD PMID:22824796 PMID:32463951 RGD:149735894 RGD:14985256 NCBI chrNW_004936483:15,845,777...15,864,341 JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD PMID:24139215 RGD:14398746 NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G Lcn2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 RGD:126790491 NCBI chrNW_004936487:15,721,752...15,725,396 JBrowse link
G Lrp1b LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chrNW_004936469:35,000,773...36,160,216 JBrowse link
G Pbrm1 polybromo 1 ISO RGD PMID:27864835 RGD:150340628 NCBI chrNW_004936473:3,382,618...3,476,049 JBrowse link
G Smad4 SMAD family member 4 disease_progression ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 PMID:23981608 RGD:18936999 RGD:21066336 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971412 guanine nucleotide-binding protein subunit alpha-14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chrNW_004936503:12,860,296...13,056,880 JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chrNW_004936474:158,376...282,310 JBrowse link
Klatskin's tumor 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: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Gata6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936550:1,814,336...1,844,399 JBrowse link
G Kmt2c lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936527:7,310,885...7,508,032 JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936548:2,078,568...2,113,877 JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chrNW_004936496:6,005,410...6,284,332 JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Multiple cutaneous leiomyomas ClinVar PMID:11865300 PMID:12761039 PMID:16575891 PMID:21929734 PMID:22069215 More... NCBI chrNW_004936526:8,936,096...8,965,155 JBrowse link
leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chrNW_004936512:10,706,043...10,712,797 JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chrNW_004936657:2,805,947...2,848,180 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004936490:15,142,526...15,146,375 JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 severity ISO Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) RGD PMID:15823121 RGD:2289964 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chrNW_004936476:24,795,854...24,803,138 JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO Uterine; protein:increased expression:tumor:10/14 tumors (71%) RGD PMID:17367465 RGD:2292170 NCBI chrNW_004936482:17,162,854...17,238,319 JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chrNW_004936762:460,342...483,264 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chrNW_004936815:468,987...492,666 JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chrNW_004936807:1,090,928...1,116,166 JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chrNW_004936620:4,069,956...4,145,212 JBrowse link
liver benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldob aldolase, fructose-bisphosphate B ISO protein:increased activity:liver (rat) RGD PMID:8264573 RGD:2313432 NCBI chrNW_004936524:9,584,302...9,592,961 JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:9633945 RGD:10755510 NCBI chrNW_004939393:628...6,234 JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chrNW_004936492:2,411,171...2,428,484 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Col1a1 collagen type I alpha 1 chain onset ISO mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Eif4g2 eukaryotic translation initiation factor 4 gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chrNW_004936528:7,563,965...7,574,630 JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chrNW_004936647:2,087,650...2,133,343 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:25168696 RGD:11049493 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Kmt5c lysine methyltransferase 5C disease_progression ISO protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chrNW_004936886:596,949...602,959 JBrowse link
G LOC101966907 histone H2AX treatment ISO RGD PMID:23474136 RGD:8693737 NCBI chrNW_004936542:4,046,930...4,049,017 JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 ISO RGD PMID:24233520 RGD:7495808 NCBI chrNW_004936741:362,682...386,633 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase onset ISO mRNA, protein:increased expression:neoplastic liver (rat) RGD PMID:11956651 RGD:2317546 NCBI chrNW_004936589:2,280,803...2,390,179 JBrowse link
G Mthfr methylenetetrahydrofolate reductase onset ISO mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:24418717 RGD:11035219 NCBI chrNW_004936475:19,771,384...19,785,034 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chrNW_004936496:10,409,948...10,466,722 JBrowse link
G Tut4 terminal uridylyl transferase 4 ISO human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chrNW_004936522:8,468,092...8,560,453 JBrowse link
lung adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO mRNA:decreased expression:lung (human) RGD PMID:14647414 RGD:10047051 NCBI chrNW_004936669:797,475...808,952 JBrowse link
lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chrNW_004936739:240,572...281,925 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
Malignant Granular Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chrNW_004936475:3,394,423...3,432,998 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 chrNW_004936588:2,908,970...3,005,625 JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101962200 STAM binding protein ISO OMIM NCBI chrNW_004936556:143,483...174,383 JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlh1 mutL homolog 1 ISO OMIM NCBI chrNW_004936473:26,556,636...26,600,830 JBrowse link
G Msh2 mutS homolog 2 ISO OMIM NCBI chrNW_004936508:4,943,987...5,013,356 JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar NCBI chrNW_004936474:17,439,250...17,440,829 JBrowse link
G Tek TEK receptor tyrosine kinase ISO OMIM NCBI chrNW_004936611:2,420,176...2,531,726 JBrowse link
Multiple Fibroadenomas of the Breast term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prlr prolactin receptor ISO OMIM NCBI chrNW_004936518:6,352,133...6,495,242 JBrowse link
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO OMIM NCBI chrNW_004936482:16,804,129...16,853,539 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 chrNW_004936631:2,649,792...2,686,430 JBrowse link
nephroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease III ISO DNA:mutations: : RGD PMID:24481001 RGD:149735348 NCBI chrNW_004936846:528,768...584,599 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 chrNW_004936538:2,815,370...2,877,084 JBrowse link
G Axl AXL receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chrNW_004936661:3,658,140...3,687,290 JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chrNW_004936498:14,050,731...14,082,410 JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chrNW_004936482:17,537,697...17,581,320