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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)



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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 ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic ClinVar PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More... NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G AVPR1B arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr38:2,440,574...2,446,037
Ensembl chr38:2,440,615...2,446,037
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO OMIM NCBI chr30:16,341,970...16,408,246
Ensembl chr30:16,342,009...16,408,012
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 chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
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:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr13:36,866,476...36,880,625 JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Adrenocortical adenoma ClinVar PMID:10647896 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
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 chr20:48,416,730...48,425,237
Ensembl chr20:48,409,045...48,426,669
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 6:63,615,445...63,729,386
Ensembl chr 6:63,618,323...63,730,146
JBrowse link
adrenal gland pheochromocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Adrenal gland pheochromocytoma ClinVar PMID:25741868 NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
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:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,211,533...21,323,851 JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,559,307...21,578,314
Ensembl chr 5:21,559,298...21,592,854
JBrowse link
G C5H11orf52 chromosome 5 C11orf52 homolog ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,168,810...21,177,594
Ensembl chr 5:21,169,460...21,176,171
JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,199,494...21,205,441
Ensembl chr 5:21,201,326...21,205,111
JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132
JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,097,000...21,168,470
Ensembl chr 5:21,100,045...21,167,166
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153
JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,205,520...21,210,629 JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,533,859...21,558,543
Ensembl chr 5:21,534,298...21,557,384
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:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,179,875...21,181,096
Ensembl chr 5:21,179,881...21,181,017
JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,509,143...21,531,390
Ensembl chr 5:21,512,026...21,531,641
JBrowse link
G MIR34B microRNA mir-34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,558,685...21,558,768
Ensembl chr 5:21,558,685...21,558,768
JBrowse link
G MIR34C microRNA mir-34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,558,106...21,558,160 JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532 NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,042,931...21,053,891
Ensembl chr 5:21,044,817...21,053,847
JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,053,927...21,060,591
Ensembl chr 5:21,053,216...21,063,122
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,671,000...21,695,757
Ensembl chr 5:21,628,439...21,694,773
JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,731,093...21,740,770 JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,323,956...21,356,835
Ensembl chr 5:21,322,059...21,394,193
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 gastrointestinal stromal tumor OMIM
ClinVar
PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor OMIM
ClinVar
PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
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 gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor OMIM
ClinVar
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,354,127...21,479,891
Ensembl chr 5:21,358,902...21,479,841
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:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 5:21,041,139...21,042,769
Ensembl chr 5:21,040,715...21,042,769
JBrowse link
Carotid Body Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carotid body tumor ClinVar PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Carotid body paraganglioma ClinVar PMID:11391796 PMID:15066320 PMID:17576205 PMID:19351833 PMID:19454582 More... NCBI chr 5:21,030,295...21,041,125 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 chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
familial glomangioma 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 term: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399
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 | ClinVar Annotator: match by term: LIVER CELL ADENOMAS, FAMILIAL OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
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 adenoma ClinVar PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More... NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More... NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841
JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:25741868 NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697
JBrowse link
glomangioma 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 term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations OMIM
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399
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:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 More... NCBI chr 5:21,030,295...21,041,125 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 chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 term: Somatotroph adenoma ClinVar PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 More... NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G GNAS GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G GPR101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:107,302,200...107,304,733
Ensembl chr  X:107,303,175...107,304,689
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr25:24,964,908...24,993,276
Ensembl chr25:24,964,908...24,993,297
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Somatotroph adenoma ClinVar PMID:30630164 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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:25741868 PMID:25806919 PMID:25806920 PMID:25806921 More... NCBI chr  X:107,302,200...107,304,733
Ensembl chr  X:107,303,175...107,304,689
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 PMID:33912852 NCBI chr15:7,167,665...7,170,388 JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSC2 TSC complex subunit 2 ISO DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
hepatocellular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15509519 RGD:1358261 NCBI chr27:36,654,328...36,695,775 JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr20:50,328,466...50,371,845
Ensembl chr20:50,331,030...50,348,195
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO RGD PMID:23543859 RGD:14700918 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G HNF1A HNF1 homeobox A susceptibility
exacerbates
ISO DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
DNA:mutation: (human)
DNA:loss of heterozygosity, mutations:multiple
RGD PMID:12355088 PMID:14598263 PMID:17663417 RGD:14700683 RGD:14700774 RGD:150530291 NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G KRAS KRAS proto-oncogene, GTPase induced ISO aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 ameliorates ISO RGD PMID:26560698 RGD:11342977 NCBI chr 2:16,717,845...16,740,816
Ensembl chr 2:16,720,596...16,740,515
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15199412 PMID:27022031 RGD:1302555 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO MouseDO NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G TMEM70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741
JBrowse link
G UBE2E2 ubiquitin conjugating enzyme E2 E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr23:20,110,128...20,593,767
Ensembl chr23:20,130,230...20,486,399
JBrowse link
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAGLA diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,727,932...54,754,077
Ensembl chr18:54,730,454...54,752,646
JBrowse link
G LRRC10B leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,928,483...54,930,469
Ensembl chr18:54,929,548...54,930,426
JBrowse link
G MAX MYC associated factor X ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 More... NCBI chr 8:39,441,216...39,465,703
Ensembl chr 8:39,380,686...39,465,959
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:25741868 PMID:28492532 NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
JBrowse link
G SAXO4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,943,646...54,952,100
Ensembl chr18:54,943,670...54,950,994
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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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 chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
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 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
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:16199547 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,863,072...54,926,121
Ensembl chr18:54,861,754...54,921,367
JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692
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 chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G B9D2 B9 domain containing 2 ISO mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BTC betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr15:64,133,051...64,159,155
Ensembl chr15:64,135,920...64,158,970
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CUX1 cut like homeobox 1 exacerbates
disease_progression
ISO protein:increased expression:pancreas (human)
mRNA:increased expression:pancreas (mouse)
RGD PMID:25248790 RGD:152985543 NCBI chr 6:7,820,154...8,108,236
Ensembl chr 6:7,820,764...8,195,631
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chr28:2,895,916...2,903,543 JBrowse link
G INS insulin ISO protein:altered localization:pancreas
protein:altered expression:blood
RGD PMID:2565624 PMID:8175958 RGD:2317266 RGD:2317268 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G MEN1 menin 1 disease_progression ISO DNA:deletion:exon
DNA:deletions:exons
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12941803 PMID:17961653 PMID:19208834 PMID:20138042 RGD:2317288 RGD:2317292 RGD:2317310 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
JBrowse link
G RPS15 ribosomal protein S15 ISO RGD PMID:3019805 RGD:61740 NCBI chr20:57,406,544...57,407,015
Ensembl chr20:57,406,545...57,413,421
JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet
protein:increased expression:pancreatic B cell
RGD PMID:8421107 PMID:12114701 RGD:2324976 RGD:2324977 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409
JBrowse link
G TGFA transforming growth factor alpha ISO protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chr10:68,915,671...68,957,027 JBrowse link
liver benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOB aldolase, fructose-bisphosphate B ISO protein:increased activity:liver (rat) RGD PMID:8264573 RGD:2313432 NCBI chr11:58,150,621...58,166,266
Ensembl chr11:58,150,967...58,176,319
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:9633945 RGD:10755510 NCBI chr27:37,102,728...37,114,084
Ensembl chr27:37,103,016...37,114,556
JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G COL1A1 collagen type I alpha 1 chain onset ISO mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G EIF4G2 eukaryotic translation initiation factor 4 gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chr21:33,967,908...33,980,017
Ensembl chr21:33,952,793...33,977,653
JBrowse link
G H2AX H2A.X variant histone treatment ISO RGD PMID:23474136 RGD:8693737 NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557
JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:25168696 RGD:11049493 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G KMT5C lysine methyltransferase 5C disease_progression ISO protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chr 1:102,334,687...102,342,090
Ensembl chr 1:102,333,543...102,342,118
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 ISO RGD PMID:24233520 RGD:7495808 NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase onset ISO mRNA, protein:increased expression:neoplastic liver (rat) RGD PMID:11956651 RGD:2317546 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MTHFR methylenetetrahydrofolate reductase onset ISO mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:24418717 RGD:11035219 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G TTPA alpha tocopherol transfer protein ISO mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
JBrowse link
G TUT4 terminal uridylyl transferase 4 ISO human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chr15:8,832,208...8,958,136
Ensembl chr15:8,832,199...9,047,152
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 mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas RGD PMID:15780567 RGD:2292414 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G KRT7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16927643 NCBI chr27:2,812,709...2,827,451 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:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G PVALB parvalbumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16927643 NCBI chr10:27,655,896...27,674,309
Ensembl chr10:27,655,905...27,707,332
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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
papillary tumor of the pineal region term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Papillary tumor of the pineal region ClinVar PMID:10866302 PMID:11051241 PMID:12614768 PMID:17942903 PMID:21194675 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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 chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates ISO mRNA:increased expression:adrenal gland, chromaffin cell (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:12036912 RGD:619590 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G DAGLA diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,727,932...54,754,077
Ensembl chr18:54,730,454...54,752,646
JBrowse link
G LRRC10B leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,928,483...54,930,469
Ensembl chr18:54,929,548...54,930,426
JBrowse link
G MAX MYC associated factor X ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 More... NCBI chr 8:39,441,216...39,465,703
Ensembl chr 8:39,380,686...39,465,959
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532 NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
JBrowse link
G SAXO4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,943,646...54,952,100
Ensembl chr18:54,943,670...54,950,994
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata ClinVar PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata
ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:16199547 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SSTR2 somatostatin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29163802 NCBI chr 9:6,989,488...7,004,851
Ensembl chr 9:6,996,874...7,000,778
JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr18:54,863,072...54,926,121
Ensembl chr18:54,861,754...54,921,367
JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata
ClinVar PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692
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 1 | ClinVar Annotator: match by term: Paragangliomas familial 1 OMIM
ClinVar
PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 More... NCBI chr 5:21,030,295...21,041,125 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: Glomus tumors, familial, 2 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2 | ClinVar Annotator: match by term: Paragangliomas 2 OMIM
ClinVar
PMID:6264239 PMID:6286462 PMID:9536098 PMID:17576681 PMID:19628817 More... NCBI chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
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: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
OMIM
ClinVar
PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal ClinVar PMID:9683583 PMID:10657297 PMID:11391798 PMID:12000816 PMID:12114404 More... NCBI chr 5:21,030,295...21,041,125 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 2:81,116,031...81,147,889
Ensembl chr 2:81,116,140...81,145,043
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal OMIM
ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:9683583 PMID:10657297 PMID:11391798 PMID:12000816 PMID:12114404 More... NCBI chr 5:21,030,295...21,041,125 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: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 | ClinVar Annotator: match by term: Paragangliomas 5 OMIM
ClinVar
PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G ZMYND11 zinc finger MYND-type containing 11 ISO ClinVar Annotator: match by term: Paragangliomas 5 ClinVar NCBI chr 2:34,492,283...34,614,152
Ensembl chr 2:34,493,994...34,570,523
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 chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933
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:25741868 PMID:30929736 NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999
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 Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 5:21,030,295...21,041,125 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:15591042 PMID:17284438 PMID:19389809 More... NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
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:25741868 More... NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Parathyroid adenoma ClinVar PMID:25741868 PMID:35738466 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Parathyroid adenoma ClinVar PMID:25741868 PMID:35738466 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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 chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
pheochromocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA2B adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:20301715 NCBI chr17:34,615,121...34,618,480
Ensembl chr17:34,615,096...34,656,791
JBrowse link
G ASTL astacin like metalloendopeptidase ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:20301715 NCBI chr17:34,594,701...34,608,708
Ensembl chr17:34,594,026...34,607,961
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:12036912 RGD:619590 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CFAP126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar NCBI chr38:21,158,212...21,176,889
Ensembl chr38:21,158,108...21,161,261
JBrowse link
G CHGA chromogranin A disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:2189303 PMID:11116123 RGD:6906907 NCBI chr 8:1,970,966...1,973,511 JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G DBH dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G DDC dopa decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G DMBT1 deleted in malignant brain tumors 1 ISO mRNA:decreased expression RGD PMID:17102098 RGD:1599780 NCBI chr28:32,198,250...32,286,517
Ensembl chr28:32,219,448...32,286,532
JBrowse link
G DUSP2 dual specificity phosphatase 2 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:20301715 NCBI chr17:34,586,635...34,589,076
Ensembl chr17:34,586,716...34,588,453
JBrowse link
G FNTB farnesyltransferase, CAAX box, beta ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:25741868 NCBI chr 8:39,364,067...39,429,129 JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9215674 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:20301715 NCBI chr17:34,682,079...34,695,705
Ensembl chr17:34,678,630...34,695,970
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO RGD PMID:25879199 RGD:13792787 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574
JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:24033266 PMID:25741868 PMID:26392352 PMID:28492532 PMID:32376792 More... NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
JBrowse link
G L1CAM L1 cell adhesion molecule ISO mRNA,protein:increased expression:adrenal medulla: RGD PMID:20937862 RGD:11570409 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955
JBrowse link
G MAX MYC associated factor X ISO ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to ClinVar
OMIM
PMID:1459463 PMID:1730412 PMID:7630640 PMID:9536098 PMID:17576681 More... NCBI chr 8:39,441,216...39,465,703
Ensembl chr 8:39,380,686...39,465,959
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 chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:1568247 PMID:8264648 PMID:8499944 PMID:8499945 PMID:8669813 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
ClinVar
OMIM
PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:28492532 NCBI chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 5:21,030,295...21,041,125 JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 ISO ClinVar Annotator: match by term: Pheochromocytoma ClinVar PMID:20301715 NCBI chr17:34,534,036...34,562,733
Ensembl chr17:34,534,529...34,554,994
JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569243 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
JBrowse link
G TMEM127 transmembrane protein 127 susceptibility ISO ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Pheochromocytoma OMIM
ClinVar
PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
pineoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Pineoblastoma ClinVar PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 More... NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
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 chr38:2,440,574...2,446,037
Ensembl chr38:2,440,615...2,446,037
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:12036912 RGD:619590 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO mRNA:altered expression:pituitary gland (human) RGD PMID:24169548 RGD:13792706 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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 Annotator: match by term: Pituitary adenoma predisposition OMIM
ClinVar
PMID:2200621 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17341560 More... NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
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 OMIM
ClinVar
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
pituitary adenoma 5 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 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types OMIM
ClinVar
PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687
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 ISO mRNA, protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12552124 PMID:16809920 RGD:629544 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CEBPD CCAAT enhancer binding protein delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21980073 NCBI chr35:74,994...77,816 JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr25:24,964,908...24,993,276
Ensembl chr25:24,964,908...24,993,297
JBrowse link
G LRP2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Prolactinoma, familial ClinVar PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link
G MEN1 menin 1 ISO OMIM:600634 MouseDO NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:22635680 RGD:7240531 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NOG noggin ISO mRNA, protein:decreased expression:pituitary RGD PMID:12552124 RGD:629544 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO protein:increased expression:pars anterior RGD PMID:11026575 RGD:1625506 NCBI chr15:59,600,212...59,608,576
Ensembl chr15:59,606,902...59,608,273
JBrowse link
G PRL prolactin sexual_dimorphism ISO DNA:mutation
protein:increased expression:blood serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:12124824 More... RGD:1642576 RGD:401960111 RGD:401976454 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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 chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711
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 chr26:37,585,096...37,629,221
Ensembl chr26:37,586,727...37,626,618
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 chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501
JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid OMIM
ClinVar
PMID:15841082 PMID:25741868 NCBI chr20:43,721,568...43,730,607
Ensembl chr20:43,721,640...43,730,295
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of cellular proliferation 7264
      benign neoplasm 2154
        organ system benign neoplasm 1257
          endocrine organ benign neoplasm 147
            adrenal adenoma + 6
            adrenal rest tumor 0
            benign exocrine pancreas neoplasm 0
            gonadoblastoma + 0
            granular cell tumor of the sellar region 0
            intestinal neuroendocrine benign tumor + 1
            laryngeal neuroendocrine tumor 0
            liver benign neoplasm + 34
            oxyphilic adenoma + 8
            pancreatic cystadenoma + 13
            parathyroid gland benign neoplasm + 5
            pheochromocytoma + 65
            pineocytoma + 3
            pituitary gland benign neoplasm + 23
            thymus lipoma 0
            thyroid adenoma + 1
paths to the root