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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 IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 1:43,933,801...43,937,240
Ensembl chr 1:43,933,320...43,937,240
JBrowse link
G BDNF brain derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CAV1 caveolin 1 IEP RGD PMID:20881564 RGD:8661782 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression IEP RGD PMID:15354013 RGD:11567268 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GDNF glial cell derived neurotrophic factor IEP mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility IEP protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IEP protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G VEGFA vascular endothelial growth factor A IDA RGD PMID:14660915 RGD:8547959 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
ACTH-secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein EXP
IAGP
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 chr11:67,468,179...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G AVPR1B arginine vasopressin receptor 1B IEP RGD PMID:23884782 RGD:14700670 NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699
JBrowse link
G BMP4 bone morphogenetic protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G USP8 ubiquitin specific peptidase 8 EXP
IAGP
CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr15:50,424,359...50,514,421
Ensembl chr15:50,424,380...50,514,421
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 IAGP ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IEP mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IEP mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CCN2 cellular communication network factor 2 IEP mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP OMIM NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G PAX3 paired box 3 IAGP DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
RGD
PMID:24033266 PMID:25741868 PMID:15313887 RGD:1580944 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PAX7 paired box 7 IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
OMIM
ClinVar
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866
JBrowse link
G TP73 tumor protein p73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714
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 IAGP OMIM NCBI chr17:81,977,550...82,017,669
Ensembl chr17:81,976,807...82,017,406
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha EXP CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
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 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 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 IAGP OMIM NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CD8A CD8a molecule HEP mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,349,835...21,351,378
JBrowse link
G IL10 interleukin 10 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B treatment IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
JBrowse link
G IL2 interleukin 2 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL4 interleukin 4 treatment IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment HEP mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:54,906,063...54,938,211
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,069,155...186,088,073
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR7 toll like receptor 7 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR8 toll like receptor 8 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:1,203,508...1,207,901
Ensembl chr 1:1,203,508...1,206,592
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 EXP CTD Direct Evidence: therapeutic CTD PMID:12170190 PMID:12397731 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
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 IEP mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chr12:76,036,585...76,084,687
Ensembl chr12:76,036,585...76,084,735
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,203,307...159,206,500
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:75,260,122...75,351,662
Ensembl chr11:75,260,122...75,351,705
JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr17:4,710,619...4,721,500
Ensembl chr17:4,710,596...4,721,499
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 chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G FGF2 fibroblast growth factor 2 IEP RGD PMID:10541235 RGD:8655590 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ENG endoglin susceptibility IAGP
ISO
associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G GLMN glomulin, FKBP associated protein IAGP glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 1:92,245,786...92,441,936
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16720380 RGD:1582655 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility IAGP DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISS OMIM:108010 MouseDO NCBI chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP 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 chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENG endoglin disease_progression IAGP
ISS
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
DNA:polymorphism: : 207G>A(human)
ClinVar
MouseDO
RGD
PMID:25741868 PMID:16179574 PMID:24520391 PMID:24876084 RGD:1580962, RGD:11041564, RGD:11041171 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G IL6 interleukin 6 IAGP OMIM NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,690
JBrowse link
G NOTCH4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO
RGD
PMID:19546852 RGD:6480671 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NRIP3-DT NRIP3 divergent transcript IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,004,093...9,069,363 JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:67,951,918...68,237,032
Ensembl chr 8:67,952,046...68,237,032
JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,476...9,138,114
JBrowse link
G SYN3 synapsin III IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:80,407,615...80,483,379
Ensembl chr 5:80,408,013...80,483,379
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 IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP 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 chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar
OMIM
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
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 IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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 IAGP DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:26467025 PMID:28492532 NCBI chr19:50,384,291...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSLN mesothelin IEP protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
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 IEP mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G IL6 interleukin 6 disease_progression IEP protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity IEP protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:9869516 RGD:2317706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MUC16 mucin 16, cell surface associated IEP protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression IEP
IDA
RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G RUNX3 RUNX family transcription factor 3 IDA DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362
JBrowse link
biliary tract benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin disease_progression IDA RGD PMID:20358256 RGD:2325676 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CTPS1 CTP synthase 1 IEP mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,688...41,012,565
JBrowse link
G ELF3 E74 like ETS transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:202,010,583...202,017,183
Ensembl chr 1:202,007,945...202,017,183
JBrowse link
G FASLG Fas ligand IEP protein:decreased expression:serum
associated with Biliary Tract Disease;protein:decreased expression:serum
RGD PMID:15138553 PMID:15287856 RGD:2317743, RGD:2317742 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G HGF hepatocyte growth factor IEP mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IL4 interleukin 4 IMP RGD PMID:18798553 RGD:2317263 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP RGD PMID:18159174 RGD:2317165 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MDM2 MDM2 proto-oncogene IEP protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MTAP methylthioadenosine phosphorylase IDA RGD PMID:16373701 RGD:2317953 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MUC1 mucin 1, cell surface associated IDA RGD PMID:19129927 RGD:2317987 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression IEP protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3.3 histone A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
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 IEP mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas RGD PMID:8168088 RGD:2291878 NCBI chr22:45,920,362...45,977,162
Ensembl chr22:45,920,366...45,977,162
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 IAGP ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G STAMBP STAM binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 2:73,828,911...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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 IAGP ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
OMIM
PMID:25741868 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP 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 chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
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 IAGP 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 chr 5:218,309...264,816
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206
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 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,776,096...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G BTG4 BTG anti-proliferation factor 4 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,383,828...111,514,734
Ensembl chr11:111,467,526...111,514,367
JBrowse link
G C11orf1 chromosome 11 open reading frame 1 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,879,478...111,885,975
Ensembl chr11:111,878,935...111,885,975
JBrowse link
G C11orf52 chromosome 11 open reading frame 52 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,918,913...111,926,871
Ensembl chr11:111,918,032...111,926,871
JBrowse link
G COLCA2 colorectal cancer associated 2 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,298,349...111,308,735
Ensembl chr11:111,298,546...111,308,735
JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G DIXDC1 DIX domain containing 1 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,927,169...112,022,653
Ensembl chr11:111,927,144...112,022,653
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,408...112,064,404
JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,874,056...111,879,165
Ensembl chr11:111,874,056...111,881,243
JBrowse link
G HOATZ HOATZ cilia and flagella associated protein IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,514,778...111,537,043
Ensembl chr11:111,514,778...111,537,043
JBrowse link
G HSPB2 heat shock protein family B (small) member 2 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,912,734...111,914,093
Ensembl chr11:111,912,734...111,914,093
JBrowse link
G LAYN layilin IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,540,280...111,561,745
Ensembl chr11:111,540,280...111,561,745
JBrowse link
G MIR34B microRNA 34b IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,512,938...111,513,021
Ensembl chr11:111,512,938...111,513,021
JBrowse link
G MIR34BHG MIR34B and MIR34C host gene IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,510,602...111,513,888
Ensembl chr11:111,510,600...111,513,888
JBrowse link
G MIR34C microRNA 34c IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,513,439...111,513,515
Ensembl chr11:111,513,439...111,513,515
JBrowse link
G NKAPD1 NKAP domain containing 1 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:112,074,299...112,085,150
Ensembl chr11:112,074,086...112,085,150
JBrowse link
G PIH1D2 PIH1 domain containing 2 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:112,052,161...112,074,034
Ensembl chr11:112,063,218...112,074,274
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,352,251...111,379,671
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,690,273...111,766,389
Ensembl chr11:111,726,908...111,766,389
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
OMIM
PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12205103 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome OMIM
ClinVar
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
OMIM
PMID:1945482 PMID:9536098 PMID:9683583 PMID:10657297 PMID:10846047 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SIK2 salt inducible kinase 2 IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr11:111,602,449...111,730,855
Ensembl chr11:111,602,449...111,730,855
JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B IAGP ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19454582 PMID:19802898 PMID:28492532 NCBI chr11:112,084,800...112,086,756
Ensembl chr11:112,084,800...112,086,798
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 IAGP ClinVar Annotator: match by term: PARAGANGLIOMA, CAROTID BODY
ClinVar Annotator: match by term: Carotid body paraganglioma
ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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 IAGP ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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 IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G CCM2 CCM2 scaffold protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
JBrowse link
G CYP51A1-AS1 CYP51A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,604...92,180,725
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility IAGP
EXP
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
ClinVar
CTD
RGD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531
JBrowse link
G MIR1285-1 microRNA 1285-1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:17187287 PMID:17211633 PMID:20798775 PMID:28492532 NCBI chr 7:92,204,015...92,204,098
Ensembl chr 7:92,204,015...92,204,098
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G NACAD NAC alpha domain containing IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,080,432...45,089,452
Ensembl chr 7:45,080,437...45,088,969
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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 IEP protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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 IAGP DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ADRB2 adrenoceptor beta 2 IEP protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G ALB albumin disease_progression IEP
IDA
RGD PMID:20431764 PMID:10776430 PMID:17545000 RGD:2325679, RGD:2325682, RGD:2325680 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ANXA2 annexin A2 disease_progression IEP RGD PMID:20493868 RGD:2325728 NCBI chr15:60,347,151...60,398,025
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G ANXA8 annexin A8 IEP RGD PMID:19376120 RGD:2325733 NCBI chr10:47,467,993...47,991,879
Ensembl chr10:47,460,162...47,484,158
JBrowse link
G APC APC regulator of WNT signaling pathway IDA
IAGP
DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:15467712 PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APOA1 apolipoprotein A1 IEP protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ASPH aspartate beta-hydroxylase IDA RGD PMID:21898484 RGD:6902945 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset IEP protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CYCS cytochrome c, somatic IDA RGD PMID:19788692 RGD:2317615 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association
IAGP 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 PMID:24179546 RGD:126779604, RGD:126779604 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FASLG Fas ligand IDA RGD PMID:11029528 RGD:2317746 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FGF2 fibroblast growth factor 2 IEP protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G GNAS GNAS complex locus disease_progression IAGP
EXP
DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22561520 PMID:17356712 RGD:1601377 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:24049014 RGD:14700980 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment IDA
IMP
DNA:hypermethylation:promoter
human cell line in a mouse model
RGD PMID:15467712 PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HGF hepatocyte growth factor ISO
IEP
mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151 PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IL4R interleukin 4 receptor IEP mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6 interleukin 6 IEP
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17621267 PMID:15011822 PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G KRT7 keratin 7 IEP RGD PMID:18393293 RGD:2317308 NCBI chr12:52,233,243...52,252,667
Ensembl chr12:52,232,520...52,252,186
JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
ISO
protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)
RGD PMID:16818635 PMID:14656942 RGD:2317578, RGD:2317601 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR192 microRNA 192 IEP RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:12903495 RGD:2317705 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO
IEP
protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
ISO
mRNA:increased expression:bile duct
protein:increased expression:bile duct
RGD PMID:16463672 PMID:15213623 PMID:15213623 RGD:2325856, RGD:2324667, RGD:2324667 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSLN mesothelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP
ISO
mRNA:increased expression:bile duct
protein:increased expression:bile duct:
protein:increased expression:serum
protein:increased secretion:bile
RGD PMID:19639217 PMID:18081149 PMID:15213623 PMID:19260467 PMID:19055478 RGD:2317986, RGD:2324638, RGD:2324667, RGD:2324664, RGD:2324622 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC16 mucin 16, cell surface associated IEP associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G MUC3A mucin 3A, cell surface associated IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP
ISO
protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression IEP protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:14508831 PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IEP protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
JBrowse link
G NAT2 N-acetyltransferase 2 IAGP DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G NOS2 nitric oxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16818635 PMID:16094703 RGD:2325280 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOTCH1 notch receptor 1 IEP protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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 chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression IAGP DNA:loss of heterozygosity (human) RGD PMID:11866974 PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OSBP2 oxysterol binding protein 2 IEP mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr22:30,693,782...30,907,813
Ensembl chr22:30,693,782...30,907,824
JBrowse link
G OSBPL7 oxysterol binding protein like 7 IEP mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr17:47,807,367...47,821,822
Ensembl chr17:47,807,372...47,821,834
JBrowse link
G PAWR pro-apoptotic WT1 regulator IEP mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PBRM1 polybromo 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
G PEG3 paternally expressed 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr19:56,810,082...56,840,726
Ensembl chr19:56,810,077...56,840,728
JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates IMP human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr 7:44,795,960...44,803,117
Ensembl chr 7:44,796,680...44,824,564
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRSS2 serine protease 2 IEP protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27022031 PMID:23376645 RGD:12802341 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16818635 PMID:19621664 RGD:2317180 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G REG1A regenerating family member 1 alpha susceptibility IEP mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
JBrowse link
G RNF43 ring finger protein 43 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr17:58,352,500...58,418,894
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G ROBO2 roundabout guidance receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
JBrowse link
G RUNX3 RUNX family transcription factor 3 IEP protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,871,394...17,895,175
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IEP
ISO
protein:increased expression:pancreas RGD PMID:16083599 PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G THBS1 thrombospondin 1 disease_progression IEP
IDA
DNA:hypermethylation (human) RGD PMID:16465407 PMID:11927969 PMID:12213730 RGD:2325024, RGD:2325027, RGD:2325026 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G TP53 tumor protein p53 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 IEP RGD PMID:9230212 RGD:2325161 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3B H3.3 histone B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
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 IAGP ClinVar Annotator: match by term: Choroid plexus papilloma
ClinVar Annotator: match by term: Papilloma of choroid plexus
ClinVar
OMIM
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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 IAGP ClinVar Annotator: match by term: LOPEZ-GUTIERREZ SYNDROME
ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
ClinVar
OMIM
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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 IEP protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr11:68,052,859...68,121,389
Ensembl chr11:68,052,859...68,121,444
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr17:48,997,385...49,056,145
Ensembl chr17:48,997,385...49,056,145
JBrowse link
G RAC1 Rac family small GTPase 1 IEP RGD PMID:12865273 RGD:13432048 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IEP mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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 IAGP ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IEP RGD PMID:21122381 RGD:13217408 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression IEP protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G F5 coagulation factor V IEP protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:8264230 RGD:13210753 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:8264230 RGD:13210753 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 HEP protein:decreased expression:colorectum (human) RGD PMID:28423721 RGD:150429743 NCBI chr17:12,020,822...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IEP
IDA
RGD PMID:21122381 PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MIR224 microRNA 224 IEP mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:151,958,578...151,958,658
Ensembl chr  X:151,958,578...151,958,658
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ameliorates ISO RGD PMID:30063920 RGD:150519915 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G PTCH1 patched 1 IEP RGD PMID:24612059 RGD:150523840 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IEP RGD PMID:21122381 RGD:13217408 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G SMAD4 SMAD family member 4 IEP mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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 IEP protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G FSCN1 fascin actin-bundling protein 1 IEP mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G MSLN mesothelin IEP protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTAP methylthioadenosine phosphorylase IEP DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:10760693 RGD:2325158 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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 IAGP ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr11:117,201,156...117,232,525
Ensembl chr11:117,204,337...117,232,525
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
ClinVar Annotator: match by term: Craniopharyngioma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 More... NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha disease_progression IEP RGD PMID:20190664 RGD:11080971 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 9:132,891,349...132,945,269
Ensembl chr 9:132,891,348...132,946,874
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 IAGP ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:29456477 More... NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
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 IAGP ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:8162051 PMID:15311282 PMID:17293347 PMID:20223039 PMID:20513532 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
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 ERVFRD-3 endogenous retrovirus group FRD member 3 IAGP ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma ClinVar PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 9:21,929,257...21,931,273
Ensembl chr 9:21,929,457...21,931,073
JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma
ClinVar
OMIM
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
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 IAGP DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G BCOR BCL6 corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G MYOD1 myogenic differentiation 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011 PMID:26822237 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SLC22A18 solute carrier family 22 member 18 IEA OMIM:268210 MouseDO NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G YAP1 Yes1 associated transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr11:102,109,957...102,233,424
Ensembl chr11:102,110,447...102,233,424
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 IEP protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G CA9 carbonic anhydrase 9 IEP protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 9:35,673,809...35,681,159
Ensembl chr 9:35,673,928...35,681,159
JBrowse link
G CDC25B cell division cycle 25B IEP protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr20:3,786,951...3,806,118
Ensembl chr20:3,786,772...3,806,121
JBrowse link
G CDC25C cell division cycle 25C IEP RGD PMID:12931023 RGD:4105452 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751
JBrowse link
G CSRP1 cysteine and glycine rich protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 1:201,483,530...201,507,123
Ensembl chr 1:201,483,530...201,509,456
JBrowse link
G DDX1 DEAD-box helicase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,634,346
JBrowse link
G H19 H19 imprinted maternally expressed transcript IEP mRNA:altered localization:endometrium RGD PMID:15228427 RGD:2306178 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G JUP junction plakoglobin IEP protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP RGD PMID:19419940 RGD:2314912 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MMP7 matrix metallopeptidase 7 IEP protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTK2 protein tyrosine kinase 2 IEP protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G SKP2 S-phase kinase associated protein 2 IEP associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 5:36,152,067...36,184,319
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G TFF1 trefoil factor 1 IEP protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
epidermal appendage tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM207 transmembrane protein 207 ISS MouseDO NCBI chr 3:190,428,655...190,449,901
Ensembl chr 3:190,428,655...190,449,901
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 EXP
IAGP
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 chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 More... NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 More... NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,053...40,246,967
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 8:78,675,870...78,806,830
Ensembl chr 8:78,675,743...78,805,523
JBrowse link
Epithelioid Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:15982392 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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 IAGP RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G PBRM1 polybromo 1 disease_progression IAGP RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 3:12,796,654...12,834,818
Ensembl chr 3:12,796,472...12,871,916
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 IAGP ClinVar Annotator: match by term: Hepatic adenomas, familial OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
Familial Isolated Pituitary Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More... NCBI chr11:67,468,179...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Pituitary adenoma, familial isolated ClinVar PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More... NCBI chr 2:29,190,992...29,921,589
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar PMID:25741868 NCBI chr 3:50,227,068...50,259,362
Ensembl chr 3:50,226,292...50,259,362
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 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12973667 PMID:14508707 PMID:14508707 RGD:1599125 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
G GRM1 glutamate metabotropic receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
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 IEP RGD PMID:9973190 RGD:1599928 NCBI chr 8:8,783,354...8,893,630
Ensembl chr 8:8,783,354...8,893,630
JBrowse link
G MMP21 matrix metallopeptidase 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821
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 IAGP ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Childhood ganglioglioma ClinVar PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:7607663 PMID:10712197 PMID:16835897 PMID:16944272 PMID:19738042 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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 IAGP ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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 IEP mRNA:increased expression: : RGD PMID:20030694 RGD:8547978 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 IAGP ClinVar Annotator: match by term: Glomuvenous malformations
ClinVar Annotator: match by term: VENOUS MALFORMATIONS WITH GLOMUS CELLS
ClinVar
OMIM
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 1:92,245,786...92,441,936
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
growth hormone secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP
EXP
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 chr11:67,468,179...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPR101 G protein-coupled receptor 101 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IEP mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G MEN1 menin 1 ISS
IAGP
OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO
ClinVar
PMID:30630164 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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 IAGP ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 More... NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
JBrowse link
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP RGD PMID:19821096 RGD:8657063 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Hemangioma ClinVar NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemangioma
CTD
ClinVar
PMID:9286463 PMID:9467011 PMID:21194675 PMID:28492532 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:10665907 RGD:12879499 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:55,346,228...55,373,100
Ensembl chr 4:55,346,213...55,373,100
JBrowse link
G SRD5A3-AS1 SRD5A3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:55,366,601...55,385,580
Ensembl chr 4:55,363,971...55,395,847
JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G YAP1 Yes1 associated transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chr11:102,109,957...102,233,424
Ensembl chr11:102,110,447...102,233,424
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 IAGP ClinVar Annotator: match by term: Hepatic hemangioma ClinVar NCBI chr 1:34,792,958...34,795,747
Ensembl chr 1:34,792,999...34,795,747
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 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
hepatocellular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO
EXP
mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15509519 PMID:15509519 RGD:1358261 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr19:10,871,553...10,923,078
Ensembl chr19:10,871,553...10,923,075
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO RGD PMID:23543859 RGD:14700918 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G HNF1A HNF1 homeobox A susceptibility
exacerbates
IAGP DNA:loss of heterozygosity, mutations:multiple
DNA:mutation: (human)
DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
RGD PMID:12355088 PMID:17663417 PMID:14598263 RGD:14700683, RGD:150530291, RGD:14700774 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HP haptoglobin ISO RGD PMID:10569800 RGD:1626391 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase induced ISO aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MKI67 marker of proliferation Ki-67 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr 1:161,229,666...161,238,623
Ensembl chr 1:161,229,666...161,238,244
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27022031 PMID:15199412 RGD:1302555 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISS MouseDO NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G TMEM70 transmembrane protein 70 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G UBE2E2 ubiquitin conjugating enzyme E2 E2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 3:23,203,007...23,591,925
Ensembl chr 3:23,203,020...23,591,794
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 IAGP ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar Annotator: match by term: DESMOID TUMOR CAUSED BY SOMATIC MUTATION
ClinVar
OMIM
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:8162022 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: DESMOID TUMOR CAUSED BY SOMATIC MUTATION ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL139022.1 novel transcript, antisense to MAX IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:17576681 PMID:21685915 PMID:22452945 PMID:27838885 More... NCBI chr14:65,089,918...65,094,311
Ensembl chr14:65,082,034...65,094,212
JBrowse link
G LOC110121224 VISTA enhancer hs1919 IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:20154675 PMID:21156949 PMID:28492532 NCBI chr 2:96,257,964...96,261,352 JBrowse link
G MAX MYC associated factor X IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1459463 PMID:1730412 PMID:7630640 PMID:9536098 PMID:17576681 More... NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:28492532 NCBI chr 1:161,303,594...161,309,969
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More... NCBI chr 5:218,309...264,816
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,733
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:17298551 More... NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1945482 PMID:9683583 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20154675 PMID:20923864