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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:endocrine organ benign neoplasm
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Accession:DOID:0060089 term browser browse the term
Definition:An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)
Synonyms:primary_id: RDO:9002416
For additional species annotation, visit the Alliance of Genome Resources.



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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 More... NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:43,046,960...43,057,110
Ensembl chr13:43,046,267...43,057,792
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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 chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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 PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G Colca2 colorectal cancer associated 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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 8:51,093,267...51,094,864 JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
JBrowse link
G LOC689959 hypothetical protein LOC689959 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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:9536098 PMID:11404820 PMID:11897817 PMID:12205103 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome OMIM
ClinVar
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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:1945482 PMID:9536098 PMID:9683583 PMID:10657297 PMID:10846047 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19454582 PMID:19802898 PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
familial hepatic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Hepatic adenomas, familial OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
Familial Isolated Pituitary Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More... NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
JBrowse link
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pituitary adenoma, familial isolated ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:28166811 PMID:28492532 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar PMID:25741868 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
Glomus Jugulare Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:16316337 RGD:1581416 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
Glomus Tympanicum Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:20030694 RGD:8547978 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by OMIM:138000
ClinVar Annotator: match by term: Glomuvenous malformations
ClinVar
OMIM
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
JBrowse link
growth hormone secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 More... NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
JBrowse link
G Men1 menin 1 ISS
ISO
OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO
ClinVar
PMID:30630164 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
hemangioma of liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Hepatic hemangioma ClinVar NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
hepatocellular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP
ISO
mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15509519 PMID:15509519 RGD:1358261 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment IEP RGD PMID:23543859 RGD:14700918 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10959800 NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
JBrowse link
G Hnf1a HNF1 homeobox A susceptibility IAGP DNA:loss of heterozygosity, mutations:multiple
DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
RGD PMID:12355088 PMID:14598263 RGD:14700683, RGD:14700774 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Hp haptoglobin IEP RGD PMID:10569800 RGD:1626391 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase induced IAGP aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27022031 PMID:15199412 RGD:1302555 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISS MouseDO NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
JBrowse link
G Ube2e2 ubiquitin-conjugating enzyme E2E 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr15:6,980,195...7,257,912
Ensembl chr15:6,980,474...7,257,532
JBrowse link
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1459463 PMID:1730412 PMID:7630640 PMID:9536098 PMID:17576681 More... NCBI chr 6:95,636,857...95,662,204
Ensembl chr 6:95,636,858...95,662,137
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:28492532 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:17298551 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1945482 PMID:9683583 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20154675 PMID:20923864 More... NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
JBrowse link
insulinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:pancreas, plasma RGD PMID:11331218 RGD:2325319 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Ins2 insulin 2 ISO protein:altered expression:blood
protein:altered localization:pancreas
RGD PMID:8175958 PMID:2565624 RGD:2317266, RGD:2317268 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Men1 menin 1 disease_progression ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons
CTD
RGD
PMID:17961653 PMID:12941803 PMID:20138042 PMID:19208834 RGD:2317292, RGD:2317288, RGD:2317310 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Rps15 ribosomal protein S15 IEP RGD PMID:3019805 RGD:61740 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO protein:increased expression:pancreatic B cell
mRNA:decreased expression:pancreatic islet
RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Tgfa transforming growth factor alpha ISO protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
liver benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldob aldolase, fructose-bisphosphate B IEP protein:increased activity:liver (rat) RGD PMID:8264573 RGD:2313432 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IMP RGD PMID:9633945 RGD:10755510 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Col1a1 collagen type I alpha 1 chain onset IEP mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Eif4g2 eukaryotic translation initiation factor 4, gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588
JBrowse link
G H2ax H2A.X variant histone treatment IEP RGD PMID:23474136 RGD:8693737 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:25168696 RGD:11049493 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Kmt5c lysine methyltransferase 5C disease_progression IEP protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chr 1:69,099,531...69,107,145
Ensembl chr 1:69,099,539...69,107,145
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO RGD PMID:24233520 RGD:7495808 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase onset IEP mRNA, protein:increased expression:neoplastic liver (rat) RGD PMID:11956651 RGD:2317546 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mthfr methylenetetrahydrofolate reductase onset IEP mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP RGD PMID:24418717 RGD:11035219 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Ttpa alpha tocopherol transfer protein IEP mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Tut4 terminal uridylyl transferase 4 ISO human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chr 5:123,201,723...123,306,582
Ensembl chr 5:123,203,003...123,306,465
JBrowse link
oxyphilic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO renal oncocytomas RGD PMID:15780567 RGD:2292414 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16927643 NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Oxyphilic adenoma ClinVar PMID:21555623 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Pvalb parvalbumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16927643 NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561
JBrowse link
pancreatic mucinous cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase severity ISO DNA:mutations:cds: RGD PMID:28570009 RGD:14398747 NCBI chr 4:178,185,418...178,218,484 JBrowse link
paraganglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:12036912 RGD:619590
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:28492532 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISS OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165 MouseDO NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISS OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165 MouseDO NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16199547 More... RGD:1624151 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO
ISS
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165
ClinVar
MouseDO
RGD
PMID:12807974 PMID:17468193 PMID:23342407 PMID:28492532 PMID:11062460 RGD:1599507 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Paragangliomata
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... RGD:1302858 NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sstr2 somatostatin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29163802 NCBI chr10:98,664,204...98,671,370
Ensembl chr10:98,664,216...98,674,351
JBrowse link
Paragangliomas 1 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: Paragangliomas familial 1
ClinVar Annotator: match by term: Paragangliomas 1
OMIM
ClinVar
PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
Paragangliomas 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Paragangliomas 2 OMIM
ClinVar
PMID:6264239 PMID:6286462 PMID:19628817 PMID:20071235 PMID:21224366 More... NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
Paragangliomas 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3
ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Paraganglioma, familial malignant ClinVar PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16199547 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Glomus tumors, familial, 3
ClinVar Annotator: match by term: Paragangliomas 3
OMIM
ClinVar
PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 PMID:16249420 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
Paragangliomas 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:18057081 NCBI chr 5:153,209,053...153,251,632
Ensembl chr 5:153,209,053...153,251,632
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Paragangliomas 4
ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar Annotator: match by term: CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS
ClinVar Annotator: match by OMIM:115310
OMIM
ClinVar
PMID:490809 PMID:9509062 PMID:11404820 PMID:12000816 PMID:12205103 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Paragangliomas 5 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: Paragangliomas 5 OMIM
ClinVar
PMID:9536098 PMID:10746566 PMID:11423010 PMID:15989954 PMID:17376234 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Paragangliomas 5 ClinVar NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902
JBrowse link
Paragangliomas 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: PARAGANGLIOMAS 6 OMIM
ClinVar
PMID:29431636 NCBI chr10:55,358,163...55,360,278
Ensembl chr10:55,357,597...55,360,410
JBrowse link
Paragangliomas 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: PARAGANGLIOMAS 7 OMIM
ClinVar
PMID:30929736 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296
JBrowse link
Paragangliomas with Sensorineural Hearing Loss 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: Paragangliomas 1 with sensorineural hearing loss ClinVar PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11897817 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
parathyroid adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Parathyroid adenoma ClinVar PMID:8675635 PMID:8878438 PMID:17284438 PMID:19389809 PMID:19779033 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Parathyroid adenoma, somatic ClinVar PMID:12434154 PMID:15531515 PMID:16061557 PMID:16199547 PMID:28492532 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Parathyroid adenoma, somatic ClinVar PMID:9241276 PMID:9820618 PMID:12016472 PMID:20231234 PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
pheochromocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:12036912 RGD:619590
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552
JBrowse link
G Chga chromogranin A disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11116123 PMID:2189303 RGD:6906907 NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Dbh dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
JBrowse link
G Ddc dopa decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 IEP mRNA:decreased expression RGD PMID:17102098 RGD:1599780 NCBI chr 1:185,617,469...185,696,476 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9215674 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO RGD PMID:25879199 RGD:13792787 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by OMIM:171300
OMIM
ClinVar
PMID:18334619 PMID:18726616 PMID:25741868 PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G L1cam L1 cell adhesion molecule ISO mRNA,protein:increased expression:adrenal medulla: RGD PMID:20937862 RGD:11570409 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
ClinVar Annotator: match by OMIM:171300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Pheochromocytoma, susceptibility to
OMIM
ClinVar
CTD
PMID:21685915 PMID:22452945 PMID:23551045 PMID:25741868 PMID:26070438 More... NCBI chr 6:95,636,857...95,662,204
Ensembl chr 6:95,636,858...95,662,137
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11151443 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Ret ret proto-oncogene IEP
ISO
protein:increased expression:adrenal gland medulla
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by OMIM:171300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 More... RGD:2324930 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:16199547 PMID:22974104 PMID:24781757 PMID:25741868 PMID:26556299 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO OMIM:171300;DNA:deletion:725delC
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by OMIM:171300
ClinVar
OMIM
RGD
PMID:9509062 PMID:11404820 PMID:12000816 PMID:12205103 PMID:12213855 More... RGD:1624151 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Phaeochromocytoma, UMLS MESH term: Pheochromocytomas
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by OMIM:171300
ClinVar Annotator: match by term: Phaeochromocytoma, UMLS MESH term: Pheochromocytomas
OMIM
ClinVar
PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
ClinVar Annotator: match by OMIM:171300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:16266984 PMID:20154675 PMID:20923864 PMID:21156949 More... NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Pheochromocytoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:171300
ClinVar
CTD
OMIM
RGD
PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 More... RGD:1580371 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:28692683 RGD:14700668 NCBI chr13:43,046,960...43,057,110
Ensembl chr13:43,046,267...43,057,792
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:12036912 RGD:619590
G Grk2 G protein-coupled receptor kinase 2 ISO mRNA:altered expression:pituitary gland (human) RGD PMID:24169548 RGD:13792706 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
pituitary adenoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES ClinVar
OMIM
PMID:16728643 PMID:17341560 PMID:17360484 PMID:18381572 PMID:19366855 More... NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
JBrowse link
pituitary adenoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 3, MULTIPLE TYPES ClinVar
OMIM
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
pituitary adenoma 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES ClinVar
OMIM
PMID:9536098 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar PMID:24033266 PMID:25741868 PMID:28413019 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
JBrowse link
prolactinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IEP
ISO
protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16809920 PMID:12552124 RGD:629544 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cebpd CCAAT/enhancer binding protein delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21980073 NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Prolactin-secreting pituitary adenoma ClinVar PMID:25741868 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Men1 menin 1 ISS OMIM:600634 MouseDO NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:22635680 RGD:7240531 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nog noggin ISO mRNA, protein:decreased expression:pituitary RGD PMID:12552124 RGD:629544 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Npy5r neuropeptide Y receptor Y5 IEP protein:increased expression:pars anterior RGD PMID:11026575 RGD:1625506 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
JBrowse link
G Prl prolactin IEP
ISO
IAGP
mRNA:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism
DNA:mutation
CTD
RGD
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 More... RGD:1642576, RGD:1642576 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
renal oncocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204536 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
thyroid adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Thyroid adenoma ClinVar PMID:11297621 NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
JBrowse link
thyroid gland Hurthle cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx7 chromobox 7 ISO protein:decreased expression:thyroid Human) RGD PMID:25759796 RGD:11352710 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by OMIM:607464 OMIM
ClinVar
PMID:15841082 NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      benign neoplasm 1944
        organ system benign neoplasm 1091
          endocrine organ benign neoplasm 141
            adrenal adenoma + 7
            adrenal rest tumor 0
            benign exocrine pancreas neoplasm 0
            gonadoblastoma + 0
            intestinal neuroendocrine benign tumor + 1
            laryngeal neuroendocrine tumor 0
            liver benign neoplasm + 35
            neurohypophysis granular cell tumor 0
            oxyphilic adenoma + 8
            pancreatic cystadenoma + 12
            parathyroid gland benign neoplasm + 3
            pheochromocytoma + 56
            pituitary gland benign neoplasm + 28
            thymus lipoma 0
            thyroid adenoma + 1
paths to the root