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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:paraganglioma
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Accession:DOID:0050773 term browser browse the term
Definition:A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO)
Synonyms:exact_synonym: CBT1;   Chemodectomas;   Extra-Adrenal Paraganglioma;   Extra-Adrenal Paragangliomas;   Non-Chromaffin Paraganglioma;   Non-Chromaffin Paragangliomas;   Nonchromaffin Paraganglioma;   Nonchromaffin Paragangliomas;   PGL;   chemodectoma;   extra-adrenal sympathetic paraganglioma;   gangliocytic paraganglioma;   gangliocytic paragangliomas;   glomus body tumor;   hereditary paragangliomas and pheochromocytomas;   paragangliomas;   paragangliomata;   pheochromocytoma-paraganglioma
 narrow_synonym: Bladder Paraganglioma;   Vagus Nerve Paraganglioma;   paraganglioma, familial malignant
 primary_id: MESH:D010235;   MESH:D010236
 alt_id: DOID:9000364
 xref: EFO:0000489;   EFO:0020005;   EFO:1000128;   EFO:1000453;   EFO:1000621;   ICDO:8680/3;   MIM:PS168000;   NCI:C3308


show annotations for term's descendants           Sort by:
paraganglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 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: Paragangliomata
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 Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant		 ClinVar PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15989954 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 Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | 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: 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
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
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
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:10846047 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
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:11062460 PMID:12658451 PMID:12807974 PMID:15989954 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
Paragangliomas 1 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 1 ClinVar PMID:25720320 PMID:25741868 PMID:26198225 PMID:26269449 PMID:27390349 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
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, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | 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: 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 SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 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: 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, extraadrenal and cervical paraganglioma | 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 | ClinVar Annotator: match by term: SLC25A11-related condition OMIM
ClinVar		 PMID:28492532 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: DLST-related condition | ClinVar Annotator: match by term: Paragangliomas 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    disease of cellular proliferation 7484
      Neoplasms by Site 6938
        organ system benign neoplasm 1253
          endocrine organ benign neoplasm 147
            pheochromocytoma 65
              paraganglioma 43
                Abdominal Chemodectomas with Cutaneous Angiolipomas 0
                Carney Triad 3
                Carney-Stratakis syndrome 24
                Carotid Body Tumor 1
                Glomus Jugulare Tumor 1
                Glomus Tympanicum Tumor 1
                Head and Neck Paraganglioma 0
                Hereditary Paraganglioma-Pheochromocytoma Syndromes 13
                Metastatic Paraganglioma 0
                Paragangliomas 1 + 2
                Paragangliomas 2 1
                Paragangliomas 3 4
                Paragangliomas 4 4
                Paragangliomas 5 2
                Paragangliomas 6 1
                Paragangliomas 7 1
                glomangioma + 1
Path 2
Term Annotations click to browse term
  disease 15754
    Developmental Disease 13756
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12835
        genetic disease 12532
          monogenic disease 10694
            autosomal genetic disease 10229
              autosomal dominant disease 6659
                paraganglioma 43
                  Abdominal Chemodectomas with Cutaneous Angiolipomas 0
                  Carney Triad 3
                  Carney-Stratakis syndrome 24
                  Carotid Body Tumor 1
                  Glomus Jugulare Tumor 1
                  Glomus Tympanicum Tumor 1
                  Head and Neck Paraganglioma 0
                  Hereditary Paraganglioma-Pheochromocytoma Syndromes 13
                  Metastatic Paraganglioma 0
                  Paragangliomas 1 + 2
                  Paragangliomas 2 1
                  Paragangliomas 3 4
                  Paragangliomas 4 4
                  Paragangliomas 5 2
                  Paragangliomas 6 1
                  Paragangliomas 7 1
                  glomangioma + 1
paths to the root