Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:benign neoplasm
go back to main search page
Accession:DOID:0060072 term browser browse the term
Definition:A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO)
Synonyms:exact_synonym: benign neoplasms
 primary_id: RDO:9002410
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sult1a1 sulfotransferase family 1A member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:16402077 RGD:1581451 NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING
CTD
ClinVar
PMID:17360484, PMID:18381572, PMID:19366855, PMID:20506337, PMID:20530095, PMID:21454441, PMID:21753072, PMID:22319033, PMID:22720333, PMID:23300914, PMID:23321498, PMID:23633209, PMID:24033266, PMID:25093619, PMID:25184284, PMID:25203624, PMID:25333069, PMID:25741868, PMID:27153395, PMID:28492532, PMID:29074612, PMID:30461320, PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21544799 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975028 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18927292 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17684125 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:frameshift mutations, nonsense mutations:exon:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:9111214, PMID:10383901, PMID:12034317, PMID:19092804, PMID:30188895, PMID:11677205 RGD:2317202 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519, PMID:23913004 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913004 NCBI chr10:59,528,849...59,560,440
Ensembl chr10:59,529,785...59,560,433
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192, PMID:10426811 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10426811 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001, PMID:23913004 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192, PMID:10965019 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11376689 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:decreased expression: : RGD PMID:24080855 RGD:10401654 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Esr2 estrogen receptor 2 ISO ratio with Esr1;mRNA:decreased expression:thyroid gland (human) RGD PMID:11721176 RGD:8694118 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ins2 insulin 2 ISO protein:increased secretion:serum RGD PMID:12917331 RGD:2317273 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001, PMID:23913004 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Klf5 Kruppel-like factor 5 ISO RGD PMID:14726538 RGD:1304288 NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761429, PMID:10545420, PMID:10813127, PMID:25851810 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Men1 menin 1 ISO DNA:deletion:exons RGD PMID:12917331 RGD:2317273 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Mir144 microRNA 144 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr10:65,291,365...65,291,447
Ensembl chr10:65,291,365...65,291,447
JBrowse link
G Mir345 microRNA 345 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 6:132,748,968...132,749,063
Ensembl chr 6:132,748,968...132,749,063
JBrowse link
G Mir425 microRNA 425 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 8:117,354,821...117,354,903
Ensembl chr 8:117,354,821...117,354,903
JBrowse link
G Mir497 microRNA 497 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr10:56,844,977...56,845,045
Ensembl chr10:56,844,977...56,845,045
JBrowse link
G Mir500 microRNA 500 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:gallbladder RGD PMID:15100237 RGD:2326070 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2274009, PMID:12058109 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:10822126 NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16963246 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946351 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17823441 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8413627 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16061637 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
Adenomatous Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:12810952 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Cdx2 caudal type homeo box 2 ISO RGD PMID:9052785 RGD:734757 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15844706 NCBI chr16:75,338,050...75,340,401
Ensembl chr16:75,338,052...75,340,360
JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105, PMID:16454848, PMID:18199528, PMID:21859464, PMID:24033266, PMID:25637381, PMID:25741868, PMID:26580448, PMID:27535533, PMID:28492532, PMID:28503720 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868, PMID:31092906, PMID:32214227 NCBI chr 5:158,211,001...158,313,510
Ensembl chr 5:158,214,616...158,313,426
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 2:147,577,149...147,693,033
Ensembl chr 2:147,577,089...147,693,082
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr10:109,851,407...109,889,339
Ensembl chr10:109,851,854...109,888,623
JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355, PMID:25525273, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:19265534, PMID:17932460, PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
anus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12170190, PMID:12397731 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
appendiceal neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nap1l1 nucleosome assembly protein 1-like 1 severity ISO mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chr 7:54,213,305...54,237,880
Ensembl chr 7:54,213,319...54,236,625
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 IEP
IMP
protein:increased activity:heart left ventricle (rat) RGD PMID:22768235, PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ackr1 atypical chemokine receptor 1 IEP RGD PMID:24429330 RGD:9681736 NCBI chr13:91,827,310...91,828,875 JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Arrb1 arrestin, beta 1 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
JBrowse link
G Arrb2 arrestin, beta 2 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Arteriovenous fistulas ClinVar PMID:26092869, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Des desmin IEP RGD PMID:10591032 RGD:13525010 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Arteriovenous fistulas ClinVar PMID:30311386 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Arteriovenous fistulas ClinVar PMID:30311386 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO
protein:increased expression:ileal vein RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Arteriovenous fistulas ClinVar PMID:9467011, PMID:10400993, PMID:16014636, PMID:17526801, PMID:21194675, PMID:21659347, PMID:25525159, PMID:28492532, PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343, PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706, PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14639529, PMID:15917201 RGD:1581296 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISS OMIM:108010 MouseDO NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308, PMID:12198537, PMID:12447372, PMID:12460918, PMID:12460919, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14679157, PMID:15001635, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16772349, PMID:17374713, PMID:17488796, PMID:17785355, PMID:18398503, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19238210, PMID:19404918, PMID:19537845, PMID:19561230, PMID:20008640, PMID:20350999, PMID:20413299, PMID:20619739, PMID:20630094, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22281684, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22805292, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23251002, PMID:23302800, PMID:23325582, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23685455, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23918947, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24717435, PMID:25024077, PMID:25037139, PMID:25079330, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25370471, PMID:25399551, PMID:25950823, PMID:25989278, PMID:26619011, PMID:26678033, PMID:27404270, PMID:27480103, PMID:28854169, PMID:28891408, PMID:29925953, PMID:31779674, PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:30311386 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eng endoglin disease_progression ISO
ISS
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
PMID:25741868, PMID:24876084, PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053, PMID:25741868 NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM
ClinVar
PMID:2278970, PMID:3122217, PMID:7773929, PMID:8439212, PMID:12460918, PMID:15696205, PMID:15842656, PMID:16361624, PMID:16434492, PMID:16618717, PMID:17332249, PMID:17384584, PMID:17704260, PMID:17910045, PMID:18316791, PMID:18794081, PMID:19018267, PMID:19029981, PMID:19047918, PMID:19075190, PMID:19114683, PMID:19255327, PMID:19358724, PMID:19679400, PMID:19773371, PMID:19881948, PMID:20609353, PMID:20805368, PMID:20921462, PMID:20921465, PMID:20949522, PMID:21079152, PMID:21169357, PMID:21228335, PMID:21398618, PMID:21975775, PMID:22025163, PMID:22235099, PMID:22407852, PMID:22499344, PMID:22683711, PMID:22897852, PMID:23014527, PMID:23096712, PMID:23406027, PMID:24033266, PMID:25044103, PMID:25157968, PMID:25695684, PMID:26372703, PMID:28492532, PMID:29298116, PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 9:46,657,444...46,782,545
Ensembl chr 9:46,657,575...46,782,545
JBrowse link
G Notch4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO PMID:19546852 RGD:6480671 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:7,622,668...7,941,715
Ensembl chr 5:7,627,771...7,941,822
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:30311386 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:174,428,056...174,495,356
Ensembl chr 1:174,428,699...174,495,258
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
JBrowse link
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610, PMID:1324223, PMID:8990002, PMID:9950360, PMID:11317365, PMID:20223039, PMID:20685668, PMID:25741868, PMID:28492532, PMID:28944238 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566, PMID:20551049, PMID:22461326, PMID:24038392, PMID:26845104, PMID:28492532, PMID:29095867, PMID:29596542 NCBI chr 5:62,718,733...62,751,345
Ensembl chr 5:62,718,787...62,750,145
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
OMIM:153480
ClinVar
MouseDO
PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B susceptibility ISO DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msln mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase severity ISO protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910, PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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 ISO RGD PMID:20358256 RGD:2325676 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr13:52,083,873...52,088,798
Ensembl chr13:52,083,859...52,088,780
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:serum
associated with Biliary Tract Disease;protein:decreased expression:serum
RGD PMID:15138553, PMID:15287856 RGD:2317743, RGD:2317742 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:18798553 RGD:2317263 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
JBrowse link
Bowen's Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO associated with Vulvar Neoplasms;mRNA:increased expression:vulva RGD PMID:17471573 RGD:2289255 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:skin: RGD PMID:10583111 RGD:8662826 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Nrf1 nuclear respiratory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 4:57,335,732...57,445,317
Ensembl chr 4:57,378,069...57,445,341
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b Wnt family member 7B ISO RGD PMID:8168088 RGD:2291878 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
Capillary Hemangioma, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:18931684 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987, PMID:25741868, PMID:28492532 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
ClinVar Annotator: match by OMIM:602089
OMIM
ClinVar
PMID:11807987, PMID:18931684, PMID:24033266, PMID:24728327 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:14639529, PMID:18446851, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28295764, PMID:28492532, PMID:29891884 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:14639529, PMID:18446851, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28295764, PMID:28492532, PMID:29171923, PMID:29891884, PMID:30120215, PMID:14639529 RGD:734495 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529, PMID:18363760, PMID:18446851, PMID:23164092, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28492532, PMID:29120072 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529, PMID:18363760, PMID:18446851, PMID:23164092, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28492532, PMID:29120072 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO 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 chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar PMID:28687708 NCBI chr12:22,434,845...22,451,265
Ensembl chr12:22,434,814...22,451,263
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar Annotator: match by term: Carney triad
ClinVar PMID:20484225, PMID:21505157, PMID:21752896, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24781757, PMID:25494863, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28819017, PMID:29872718, PMID:30068732, PMID:30311386 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702, PMID:16288654, PMID:16317055, PMID:16912137, PMID:16916404, PMID:17200167, PMID:17667967, PMID:17884808, PMID:19001511, PMID:19215943, PMID:19802898, PMID:21820839, PMID:23282968, PMID:24033266, PMID:25371406, PMID:25683602, PMID:25741868, PMID:25972245, PMID:26173966, PMID:26467025, PMID:26916530, PMID:28070496, PMID:28152038, PMID:28349240, PMID:28374168, PMID:28492532, PMID:28738844, PMID:29386252 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451, PMID:17667967, PMID:17804857, PMID:19351833, PMID:21173220, PMID:24402737, PMID:26173966, PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
Carney-Stratakis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,408,917...55,508,100
Ensembl chr 8:55,504,359...55,508,259
JBrowse link
G Colca2 colorectal cancer associated 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,674,561...55,682,811
Ensembl chr 8:55,674,840...55,681,930
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,091,232...55,164,636
Ensembl chr 8:55,091,235...55,162,421
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,196,758...55,201,610
Ensembl chr 8:55,196,758...55,201,199
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,471,705...55,490,973
Ensembl chr 8:55,471,701...55,491,152
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,176,648...55,178,227
Ensembl chr 8:55,176,847...55,177,818
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,447,203...55,469,420
Ensembl chr 8:55,447,709...55,467,688
JBrowse link
G LOC689959 hypothetical protein LOC689959 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,164,736...55,174,613
Ensembl chr 8:55,164,736...55,171,718
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,039,731...55,050,259
Ensembl chr 8:55,038,597...55,050,194
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,603,968...55,631,448
Ensembl chr 8:55,603,968...55,631,446
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,279,278...55,311,768
Ensembl chr 8:55,279,373...55,301,320
JBrowse link
G RGD1564937 similar to RIKEN cDNA 1110032A03 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,169,413...55,194,692
Ensembl chr 8:55,191,085...55,194,692
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
ClinVar Annotator: match by OMIM:606864
OMIM
ClinVar
PMID:9509062, PMID:11404820, PMID:11897817, PMID:12205103, PMID:12351569, PMID:12362046, PMID:12364472, PMID:12618761, PMID:14500403, PMID:14643060, PMID:14715873, PMID:14985401, PMID:15328326, PMID:15383933, PMID:15476441, PMID:15883710, PMID:16001332, PMID:16314641, PMID:16317055, PMID:16322339, PMID:16405730, PMID:16472267, PMID:16912137, PMID:17102082, PMID:17102083, PMID:17102084, PMID:17200167, PMID:17298551, PMID:17376234, PMID:17639058, PMID:17652212, PMID:17667967, PMID:17804857, PMID:17848412, PMID:17943698, PMID:18362451, PMID:18382370, PMID:18419787, PMID:18551016, PMID:18678321, PMID:18840642, PMID:19215943, PMID:19258401, PMID:19351833, PMID:19368708, PMID:19399650, PMID:19411806, PMID:19454582, PMID:19694205, PMID:19802898, PMID:19825962, PMID:20208144, PMID:20418362, PMID:20459544, PMID:20540712, PMID:20592014, PMID:20614293, PMID:20923864, PMID:21348866, PMID:21565294, PMID:21909610, PMID:21934479, PMID:21979946, PMID:22270996, PMID:22703879, PMID:22835832, PMID:22995991, PMID:23072324, PMID:23083876, PMID:23175444, PMID:23282968, PMID:23512077, PMID:23660872, PMID:23666964, PMID:24033266, PMID:24102379, PMID:24466223, PMID:24509376, PMID:24659481, PMID:24728327, PMID:24939699, PMID:25047027, PMID:25326637, PMID:25333069, PMID:25637381, PMID:25694510, PMID:25695889, PMID:25741868, PMID:25972245, PMID:26092435, PMID:26259135, PMID:26269449, PMID:26273102, PMID:26283294, PMID:26467025, PMID:26556299, PMID:26719882, PMID:27171833, PMID:27539324, PMID:27573198, PMID:27604842, PMID:28324028, PMID:28374168, PMID:28492532, PMID:28503760, PMID:29386252, PMID:29951630, PMID:30311386, PMID:163114641 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome OMIM
ClinVar
PMID:12658451, PMID:17667967, PMID:17804857, PMID:21173220, PMID:24402737, PMID:26173966, PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
OMIM
ClinVar
PMID:1606155, PMID:1945482, PMID:9683583, PMID:10657297, PMID:10846047, PMID:11156372, PMID:11343322, PMID:11391796, PMID:11391798, PMID:11526495, PMID:11605159, PMID:11897817, PMID:12000816, PMID:12007193, PMID:12111639, PMID:12114404, PMID:12386824, PMID:12509798, PMID:12612654, PMID:12696072, PMID:12782822, PMID:12811540, PMID:14557476, PMID:14985401, PMID:15032977, PMID:15066320, PMID:15328326, PMID:15331017, PMID:15479192, PMID:15531530, PMID:15623805, PMID:15989954, PMID:16061558, PMID:16080474, PMID:16314641, PMID:16317055, PMID:17102085, PMID:17308434, PMID:17406045, PMID:17563904, PMID:17576205, PMID:17667967, PMID:17804857, PMID:17848412, PMID:17973943, PMID:18211978, PMID:18414213, PMID:18551016, PMID:18561749, PMID:18678321, PMID:18692411, PMID:18826997, PMID:19075037, PMID:19258401, PMID:19351833, PMID:19454582, PMID:19584903, PMID:19802898, PMID:19825962, PMID:20098451, PMID:20111059, PMID:20418362, PMID:20842377, PMID:21348866, PMID:21565294, PMID:21792967, PMID:21937622, PMID:21945342, PMID:21979946, PMID:22025150, PMID:22241717, PMID:22290790, PMID:22382802, PMID:22456618, PMID:22517554, PMID:22566194, PMID:22584711, PMID:22703879, PMID:22829200, PMID:23175444, PMID:23433498, PMID:23512077, PMID:23666964, PMID:24033266, PMID:24102379, PMID:24134185, PMID:24367056, PMID:24436918, PMID:24728327, PMID:24758185, PMID:24886695, PMID:25014000, PMID:25149476, PMID:25275255, PMID:25300370, PMID:25326637, PMID:25376524, PMID:25494863, PMID:25637381, PMID:25694510, PMID:25695889, PMID:25720320, PMID:25741136, PMID:25741868, PMID:25758995, PMID:25791839, PMID:25819804, PMID:25985138, PMID:26008905, PMID:26096992, PMID:26269449, PMID:26467025, PMID:27153395, PMID:27279923, PMID:27539324, PMID:27785149, PMID:27986441, PMID:28128698, PMID:28164237, PMID:28492532, PMID:28977582, PMID:29386252, PMID:30050099 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,309,005...55,408,608
Ensembl chr 8:55,308,757...55,408,464
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530, PMID:28492532 NCBI chr 8:55,037,750...55,039,130
Ensembl chr 8:55,037,750...55,039,128
JBrowse link
Carotid Body Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: PARAGANGLIOMA, CAROTID BODY
ClinVar Annotator: match by term: Carotid body paraganglioma
ClinVar PMID:10657297, PMID:11156372, PMID:11391796, PMID:11526495, PMID:12007193, PMID:12111639, PMID:12386824, PMID:12612654, PMID:12696072, PMID:14557476, PMID:15032977, PMID:15066320, PMID:15623805, PMID:17576205, PMID:18678321, PMID:19351833, PMID:19454582, PMID:21565294, PMID:21945342, PMID:21979946, PMID:22241717, PMID:22584711, PMID:22703879, PMID:23175444, PMID:23666964, PMID:24033266, PMID:24728327, PMID:24886695, PMID:25149476, PMID:25694510, PMID:25695889, PMID:25741868, PMID:26467025, PMID:27153395, PMID:27279923, PMID:28128698, PMID:28164237, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Cavernous angioma ClinVar PMID:30311386 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614, PMID:23595507, PMID:24466005, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:30311386 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393, PMID:25741868, PMID:31680349 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393, PMID:25741868, PMID:31680349 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020, PMID:25525273, PMID:25741868, PMID:28492532 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by OMIM:116860
ClinVar
OMIM
PMID:3393196, PMID:7898703, PMID:9065560, PMID:10508515, PMID:10545614, PMID:10814716, PMID:11161805, PMID:11222804, PMID:11914398, PMID:11959162, PMID:12404106, PMID:12810002, PMID:12854741, PMID:15079030, PMID:17187287, PMID:17211633, PMID:18383588, PMID:19088123, PMID:19454328, PMID:20419355, PMID:20798775, PMID:21029238, PMID:23584803, PMID:23595507, PMID:24401931, PMID:24466005, PMID:24689081, PMID:24721395, PMID:25525273, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28645800, PMID:28745674, PMID:30161288, PMID:30311386, PMID:14755725, PMID:15079030 RGD:1358458, RGD:1598379 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196, PMID:7898703, PMID:9065560, PMID:10508515, PMID:10545614, PMID:10814716, PMID:11222804, PMID:11310633, PMID:11914398, PMID:11941540, PMID:12404106, PMID:12854741, PMID:17562932, PMID:19088123, PMID:19454328, PMID:24401931, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908, PMID:14624391, PMID:14740320, PMID:15122722, PMID:17160895, PMID:18060436, PMID:18300272, PMID:19088123, PMID:19088124, PMID:20419355, PMID:23595507, PMID:24466005, PMID:25525273, PMID:25741868, PMID:26467025, PMID:27153162, PMID:27561926, PMID:27792856, PMID:28492532, PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895, PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491, PMID:18035376, PMID:18060436, PMID:20623299, PMID:23485406, PMID:23595507, PMID:23801932, PMID:25354366, PMID:25741868, PMID:26896283, PMID:28492532, PMID:30161288 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436, PMID:20623299, PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 8:6,014,014...6,036,668
Ensembl chr 8:6,013,207...6,034,142
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
JBrowse link
G Cd82 Cd82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 3:82,324,344...82,368,846
Ensembl chr 3:82,324,354...82,368,357
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma RGD PMID:17306351 RGD:2289084 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr 7:141,039,433...141,070,269
Ensembl chr 7:141,034,982...141,069,989
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Tnfsf4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430, PMID:20431764, PMID:17545000 RGD:2325682, RGD:2325679, RGD:2325680 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr16:10,417,174...10,432,388
Ensembl chr16:10,417,185...10,432,393
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:15467712, PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Epo erythropoietin IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22561520, PMID:17356712 RGD:1601377 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO DNA:hypermethylation:promoter
human cell line in a mouse model
RGD PMID:15467712, PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Hgf hepatocyte growth factor IEP
ISO
mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151, PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:17621267, PMID:15011822, PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066, PMID:22561520 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
ISO
protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)
RGD PMID:14656942, PMID:16818635 RGD:2317601, RGD:2317578 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression IEP
ISO
protein:increased expression:bile duct RGD PMID:15213623, PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IEP
mRNA:increased expression:bile duct
protein:increased expression:bile duct
RGD PMID:16463672, PMID:15213623, PMID:15213623 RGD:2325856, RGD:2324667, RGD:2324667 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO
IEP
protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:
mRNA:increased expression:bile duct
RGD PMID:19055478, PMID:19260467, PMID:15213623, PMID:18081149, PMID:19639217 RGD:2324622, RGD:2324664, RGD:2324667, RGD:2324638, RGD:2317986 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc3 mucin 3, intestinal ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:22,535,663...22,584,775 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO
IEP
protein:increased expression:bile duct RGD PMID:14752841, PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:14508831, PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Nat2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:16094703 RGD:2325280 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 disease_progression IEP mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11866974, PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr16:7,103,714...7,202,899
Ensembl chr16:7,103,998...7,200,362
JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:70,210,810...70,237,450
Ensembl chr 1:70,222,964...70,237,443
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
G Prss2 protease, serine, 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 4:70,689,737...70,694,816
Ensembl chr 4:70,689,737...70,694,761
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:23376645 RGD:12802341 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:19621664 RGD:2317180 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
G Rnf43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr10:74,956,411...75,028,951
Ensembl chr10:74,959,285...75,028,951
JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr11:11,062,866...12,618,793
Ensembl chr11:11,062,790...11,585,765
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sox17 SRY-box transcription factor 17 severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO
IEP
protein:increased expression:pancreas RGD PMID:16083599, PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969, PMID:12213730, PMID:16465407 RGD:2325027, RGD:2325026, RGD:2325024 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Tnc tenascin C severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635, PMID:22561520 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:104,573,666...104,575,890
Ensembl chr10:104,573,664...104,575,890
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110, PMID:9268097, PMID:9649554, PMID:9745456, PMID:10523019, PMID:17164305, PMID:18559376, PMID:25741868, PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234, PMID:25895133 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234, PMID:25895133 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Papilloma of choroid plexus
ClinVar Annotator: match by term: Choroid plexus papilloma
ClinVar Annotator: match by OMIM:260500
OMIM
ClinVar
PMID:1565143, PMID:1565144, PMID:1683921, PMID:7732013, PMID:7887414, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8423216, PMID:8825920, PMID:9047394, PMID:9242456, PMID:9569050, PMID:9865903, PMID:10411893, PMID:10797439, PMID:10864200, PMID:11040944, PMID:11101847, PMID:11139324, PMID:11391594, PMID:11479205, PMID:11782540, PMID:12007217, PMID:12085209, PMID:12619118, PMID:12672316, PMID:12826609, PMID:15004724, PMID:15173255, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15951970, PMID:15977174, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:17224268, PMID:17289876, PMID:17540308, PMID:17606709, PMID:17636407, PMID:17727479, PMID:18391940, PMID:18511570, PMID:19127115, PMID:19367569, PMID:19556618, PMID:19881536, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20516128, PMID:20689556, PMID:20693561, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21484931, PMID:21512767, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22110706, PMID:22186996, PMID:22233476, PMID:22652532, PMID:22698404, PMID:22710932, PMID:22811390, PMID:22899716, PMID:22915647, PMID:23161690, PMID:23246812, PMID:23263379, PMID:23484829, PMID:23538418, PMID:23792586, PMID:23894400, PMID:24033266, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24641375, PMID:24651012, PMID:24677579, PMID:24728327, PMID:24810334, PMID:24868540, PMID:25157968, PMID:25527155, PMID:25584008, PMID:25741868, PMID:25787918, PMID:25952993, PMID:26086041, PMID:26230955, PMID:26467025, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26822237, PMID:26845104, PMID:27153395, PMID:27276561, PMID:27374712, PMID:27463065, PMID:27516001, PMID:27680515, PMID:27683180, PMID:27895058, PMID:27959731, PMID:28125078, PMID:28349240, PMID:28369373, PMID:28453743, PMID:28492532, PMID:28772286, PMID:28861920, PMID:29478780, PMID:29489754, PMID:29945567, PMID:30076369, PMID:30224644, PMID:30287823, PMID:30327374, PMID:30374176, PMID:30883245, PMID:31016814, PMID:31159747, PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:612242 MouseDO NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO 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:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729222, PMID:22729224, PMID:23066039, PMID:23100325, PMID:24033266, PMID:24559322, PMID:25157968, PMID:25741868, PMID:26619011, PMID:26851524, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: CLOVES SYNDROME
DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23888070, PMID:24033266, PMID:24559322, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:26851524, PMID:27626068, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31775759, PMID:22729222 RGD:13207409 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 1:219,076,618...219,126,221
Ensembl chr 1:219,077,771...219,126,220
JBrowse link
G F5 coagulation factor V IEP protein:increased expression:serum RGD PMID:25200834 RGD:10449102 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
colorectal adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832, PMID:10811618, PMID:11257105, PMID:11904335, PMID:16454848, PMID:18199528, PMID:18844223, PMID:20233475, PMID:21859464, PMID:22703879, PMID:22722839, PMID:22995991, PMID:23085758, PMID:23292937, PMID:23970361, PMID:24033266, PMID:24055113, PMID:24728327, PMID:24861525, PMID:25178641, PMID:25203624, PMID:25318351, PMID:25479140, PMID:25559809, PMID:25637381, PMID:25741868, PMID:25778705, PMID:25980754, PMID:26332594, PMID:26416840, PMID:26467025, PMID:26580448, PMID:27153395, PMID:27535533, PMID:27600092, PMID:28301460, PMID:28492532, PMID:28503720, PMID:28873162, PMID:29212164, PMID:30256826, PMID:30311386 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 3:176,438,335...176,443,864
Ensembl chr 3:176,439,199...176,443,195
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381, PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mir224 microRNA 224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO ClinVar Annotator: match by term: Colonic adenoma recurrence, reduced risk of ClinVar PMID:12810952 NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610, PMID:8162022, PMID:8381579, PMID:8381581, PMID:8395941, PMID:9824584, PMID:10083733, PMID:11247896, PMID:12172928, PMID:12486240, PMID:15311282, PMID:15771908, PMID:16088911, PMID:17293347, PMID:18794146, PMID:19029688, PMID:20649969, PMID:20924072, PMID:22135120, PMID:23159591, PMID:25590978, PMID:25741868, PMID:26446593, PMID:26467025, PMID:26625971, PMID:26840078, PMID:27081525, PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868, PMID:28492532 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1157798, PMID:11802208, PMID:12161611, PMID:15744030, PMID:15923272, PMID:16489001, PMID:17403394, PMID:18036263, PMID:19404736, PMID:20516115, PMID:21702907, PMID:22034289, PMID:22889855, PMID:23867111, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26287763, PMID:26467025, PMID:26689913, PMID:27495310, PMID:28024868, PMID:28492532, PMID:28781887, PMID:30209399, PMID:30263132, PMID:30458859 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniopharyngioma
CTD
ClinVar
PMID:9927029, PMID:10192393, PMID:23265383, PMID:24413733, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868, PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868, PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988, PMID:25741868, PMID:28492532 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868, PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
cystic lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:22246659, PMID:24033266, PMID:25741868, PMID:26445815, PMID:29456477, PMID:31680349 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:18948003, PMID:23975875, PMID:24395473, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 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 chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
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 Mtap methylthioadenosine phosphorylase ISO ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3745248, PMID:4713573, PMID:8781110, PMID:13511301, PMID:16244874, PMID:16419137, PMID:22464254, PMID:25741868, PMID:28492532 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:12537652, PMID:18033691, PMID:19389263, PMID:21153778, PMID:22949387, PMID:23047549, PMID:24033266, PMID:25741868, PMID:26092435, PMID:26333163, PMID:26344056, PMID:26951660, PMID:28125075, PMID:28492532, PMID:29212164 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011, PMID:26822237 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISS OMIM:268210 MouseDO NCBI chr 1:216,676,330...216,700,632
Ensembl chr 1:216,677,373...216,700,641
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Ca9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Cdc25b cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr 3:123,731,539...123,741,696
Ensembl chr 3:123,731,539...123,741,339
JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr18:27,528,768...27,550,316
Ensembl chr18:27,528,354...27,550,224
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Csrp1 cysteine and glycine-rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr13:52,553,843...52,575,054
Ensembl chr13:52,553,775...52,575,051
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 6:38,422,892...38,453,762
Ensembl chr 6:38,422,888...38,453,797
JBrowse link
G H19 H19, imprinted maternally expressed transcript (non-protein coding) ISO mRNA:altered localization:endometrium RGD PMID:15228427 RGD:2306178 NCBI chr 1:215,744,404...215,747,080 JBrowse link
G Jup junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
JBrowse link
G Tff1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
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 chr11:77,644,539...77,664,616
Ensembl chr11:77,644,541...77,668,754
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567, PMID:22158547, PMID:25741868, PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:12426567, PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299, PMID:12426567, PMID:28646613 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581, PMID:19702156, PMID:20982046, PMID:21196704, PMID:28646613, PMID:30068544 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
esophagus squamous cell carcinoma 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Ajuba ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:33,208,210...33,218,456
Ensembl chr15:33,208,216...33,218,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733, PMID:22960999 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Azin1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 7:77,345,646...77,372,398
Ensembl chr 7:77,345,646...77,372,398
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Blvrb biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:84,256,063...84,273,726
Ensembl chr 1:84,256,159...84,274,075
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:207,305,748...207,350,812
Ensembl chr 2:207,305,752...207,350,812
JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cbx8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,730,968...3,745,721
Ensembl chr20:3,730,955...3,740,009
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 8:59,344,097...59,352,135
Ensembl chr 8:59,344,083...59,352,132
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968, PMID:26619011 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IEP protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
JBrowse link
G Dcc DCC netrin 1 receptor ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Dido1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:176,162,886...176,216,868
Ensembl chr 3:176,162,886...176,197,753
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma
CTD
ClinVar
PMID:21947696, PMID:23485129, PMID:25157968, PMID:10385363 RGD:5131486 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:
RGD PMID:24649311, PMID:24805087 RGD:9589143, RGD:9590071 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222, PMID:25151357 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Fanca FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:40,583,025...40,682,598
Ensembl chr10:40,584,403...40,657,861
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association ISO RGD PMID:11860825, PMID:17916905, PMID:25432134 RGD:14700943, RGD:14700982, RGD:14700948 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17173682, PMID:25432134, PMID:17916905 RGD:14700948, RGD:14700982 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:80,134,557...80,142,902
Ensembl chr  X:80,134,557...80,142,902
JBrowse link
G Hoxb7 homeo box B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr10:84,135,224...84,138,642
Ensembl chr10:84,135,116...84,138,637
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 9:4,440,982...4,492,949 JBrowse link
G Kdm4c lysine demethylase 4C severity
susceptibility
ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD PMID:24224128, PMID:15805246 RGD:9587746, RGD:9587752 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
JBrowse link
G Kdm6a