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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;   PGL;   chemodectoma;   gangliocytic paraganglioma;   gangliocytic paragangliomas;   glomus body tumor;   hereditary paragangliomas and pheochromocytomas;   paragangliomas;   paragangliomata
 primary_id: MESH:D010235
 xref: NCI:C3308;   OMIM:PS168000
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
paraganglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:12036912 RGD:619590
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:12807974 PMID:17468193 PMID:23342407 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISS OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165 MouseDO NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISS OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165 MouseDO NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R
ClinVar Annotator: match by term: Paraganglioma
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16103922 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:17652212 PMID:18362451 PMID:18382370 PMID:18840642 PMID:19351833 PMID:19393419 PMID:19454582 PMID:19802898 PMID:19927285 PMID:20208144 PMID:22517554 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23934599 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25873086 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30013182 PMID:30311386 PMID:30352407, PMID:11404820 RGD:1624151 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO
ISS		 ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
OMIM:115310 | OMIM:168000 | OMIM:601650 | OMIM:605373 | OMIM:614165		 ClinVar
MouseDO		 PMID:12807974 PMID:17468193 PMID:23342407, PMID:11062460 RGD:1599507 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Paragangliomata
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21318381 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252, PMID:10657297 RGD:1302858 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
G Sstr2 somatostatin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29163802 NCBI chr10:102,136,283...102,143,449
Ensembl chr10:102,136,283...102,143,434 		JBrowse link
Carney Triad term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar Annotator: match by term: Carney triad		 ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 PMID:30311386 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
Carney-Stratakis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,408,917...55,508,100
Ensembl chr 8:55,504,359...55,508,259 		JBrowse link
G Colca2 colorectal cancer associated 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,674,561...55,682,811
Ensembl chr 8:55,674,840...55,681,930 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,091,232...55,164,636
Ensembl chr 8:55,091,235...55,162,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,196,758...55,201,610
Ensembl chr 8:55,196,758...55,201,199 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,471,705...55,490,973
Ensembl chr 8:55,471,701...55,491,152 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,176,648...55,178,227
Ensembl chr 8:55,176,847...55,177,818 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,447,203...55,469,420
Ensembl chr 8:55,447,709...55,467,688 		JBrowse link
G LOC689959 hypothetical protein LOC689959 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,164,736...55,174,613
Ensembl chr 8:55,164,736...55,171,718 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,492,542...55,492,625
Ensembl chr 8:55,492,542...55,492,625 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,492,024...55,492,100
Ensembl chr 8:55,492,024...55,492,100 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,039,731...55,050,259
Ensembl chr 8:55,038,597...55,050,194 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,603,968...55,631,448
Ensembl chr 8:55,603,968...55,631,446 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,279,278...55,311,768
Ensembl chr 8:55,279,373...55,301,320 		JBrowse link
G RGD1564937 similar to RIKEN cDNA 1110032A03 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,169,413...55,194,692
Ensembl chr 8:55,191,085...55,194,692 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
ClinVar Annotator: match by OMIM:606864		 OMIM
ClinVar		 PMID:9509062 PMID:11404820 PMID:11897817 PMID:12205103 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14643060 PMID:14715873 PMID:14985401 PMID:15328326 PMID:15383933 PMID:15476441 PMID:15883710 PMID:16001332 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17200167 PMID:17298551 PMID:17376234 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18551016 PMID:18678321 PMID:18840642 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19399650 PMID:19411806 PMID:19454582 PMID:19694205 PMID:19802898 PMID:19825962 PMID:20208144 PMID:20418362 PMID:20459544 PMID:20540712 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21348866 PMID:21565294 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22703879 PMID:22835832 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23660872 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24466223 PMID:24509376 PMID:24659481 PMID:24728327 PMID:24939699 PMID:25047027 PMID:25326637 PMID:25333069 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25972245 PMID:26092435 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26467025 PMID:26556299 PMID:26719882 PMID:27171833 PMID:27539324 PMID:27573198 PMID:27604842 PMID:28324028 PMID:28374168 PMID:28492532 PMID:28503760 PMID:29386252 PMID:29951630 PMID:30311386 PMID:163114641 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome OMIM
ClinVar		 PMID:12658451 PMID:17667967 PMID:17804857 PMID:21173220 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma		 OMIM
ClinVar		 PMID:1606155 PMID:1945482 PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12386824 PMID:12509798 PMID:12612654 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:14985401 PMID:15032977 PMID:15066320 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15989954 PMID:16061558 PMID:16080474 PMID:16314641 PMID:16317055 PMID:17102085 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18414213 PMID:18551016 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20098451 PMID:20111059 PMID:20418362 PMID:20842377 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22566194 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27785149 PMID:27986441 PMID:28128698 PMID:28164237 PMID:28492532 PMID:28977582 PMID:29386252 PMID:30050099 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,309,005...55,408,608
Ensembl chr 8:55,308,757...55,408,464 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 8:55,037,750...55,039,130
Ensembl chr 8:55,037,750...55,039,128 		JBrowse link
Carotid Body Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: PARAGANGLIOMA, CAROTID BODY
ClinVar Annotator: match by term: Carotid body paraganglioma		 ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12612654 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15066320 PMID:15623805 PMID:17576205 PMID:18678321 PMID:19351833 PMID:19454582 PMID:21565294 PMID:21945342 PMID:21979946 PMID:22241717 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
Glomus Jugulare Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:16316337 RGD:1581416 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603 		JBrowse link
Glomus Tympanicum Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:20030694 RGD:8547978 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by OMIM:138000
ClinVar Annotator: match by term: Glomuvenous malformations		 ClinVar
OMIM		 PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695 		JBrowse link
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1459463 PMID:1730412 PMID:7630640 PMID:21685915 PMID:22452945 PMID:23551045 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:27838885 PMID:27903915 PMID:28152038 PMID:28492532 NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12807974 PMID:17468193 PMID:23342407 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		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 PMID:22904323 PMID:23666964 PMID:24033266 PMID:25741868 PMID:28384794 PMID:28492532 PMID:28546994 PMID:28724664 PMID:30201732 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		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:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:22703879 PMID:23666964 PMID:24033266 PMID:24414418 PMID:24712571 PMID:25741868 PMID:26016412 PMID:26096992 PMID:28099933 PMID:28492532 NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349 		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:11404820 PMID:11897817 PMID:12000816 PMID:12205103 PMID:12213855 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12618761 PMID:12807974 PMID:14500403 PMID:14643060 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15883710 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16001332 PMID:16103922 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22270996 PMID:22429592 PMID:22517554 PMID:22517557 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24659481 PMID:24728327 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25494863 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25736212 PMID:25741868 PMID:25873086 PMID:25972245 PMID:26092435 PMID:26173966 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26916530 PMID:27171833 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27785149 PMID:28070496 PMID:28152038 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30122763 PMID:30311386 PMID:30352407 PMID:163114641 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12658451 PMID:12807974 PMID:15989954 PMID:17298551 PMID:17468193 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19351833 PMID:19454582 PMID:21106325 PMID:21173220 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23342407 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24402737 PMID:24423348 PMID:24466223 PMID:24523625 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25394176 PMID:25637381 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:26492543 PMID:27153395 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017 PMID:29386252 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1945482 PMID:9683583 PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11897817 PMID:12000816 PMID:12114404 PMID:12509798 PMID:12612654 PMID:12782822 PMID:12811540 PMID:15066320 PMID:15328326 PMID:15479192 PMID:15531530 PMID:16080474 PMID:16317055 PMID:17102085 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18551016 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20111059 PMID:20418362 PMID:21348866 PMID:21792967 PMID:21937622 PMID:21945342 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22566194 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24367056 PMID:24436918 PMID:24758185 PMID:25014000 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25494863 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27279923 PMID:28492532 PMID:29386252 PMID:30050099 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22517554 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:25800244 PMID:26267327 PMID:26269449 PMID:26960314 PMID:28384794 PMID:28458909 PMID:28492532 PMID:28567294 PMID:28855235 PMID:29282712 PMID:29909963 PMID:30877234 NCBI chr 3:119,677,575...119,690,371
Ensembl chr 3:119,677,575...119,690,366 		JBrowse link
Paragangliomas 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas familial 1
ClinVar Annotator: match by term: Paragangliomas 1		 OMIM
ClinVar		 PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12612654 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:15032977 PMID:15066320 PMID:15328326 PMID:15479192 PMID:15531530 PMID:15623805 PMID:16080474 PMID:16314641 PMID:16317055 PMID:17102085 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18414213 PMID:18561749 PMID:18678321 PMID:18692411 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19825962 PMID:20098451 PMID:20208144 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22517554 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
Paragangliomas 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Paragangliomas 2 OMIM
ClinVar		 PMID:6264239 PMID:6286462 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:24414418 PMID:25741868 PMID:28099933 PMID:28492532 NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349 		JBrowse link
Paragangliomas 3 term browser
Symbol Object Name 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 PMID:12807974 PMID:17468193 PMID:23342407 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Paraganglioma, familial malignant ClinVar PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:18362451 PMID:18840642 PMID:19454582 PMID:19802898 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30352407 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 PMID:16249420 PMID:17468193 PMID:17667967 PMID:17898811 PMID:19351833 PMID:19454582 PMID:21106325 PMID:21979946 PMID:22136840 PMID:22351710 PMID:22517554 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26492543 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
Paragangliomas 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:18057081 NCBI chr 5:159,428,479...159,471,113
Ensembl chr 5:159,428,515...159,471,144 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Paragangliomas 4
ClinVar Annotator: match by term: CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS
ClinVar Annotator: match by OMIM:115310		 OMIM
ClinVar		 PMID:490809 PMID:9509062 PMID:11404820 PMID:12000816 PMID:12205103 PMID:12213855 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14643060 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15531530 PMID:15883710 PMID:15987702 PMID:16001332 PMID:16103922 PMID:16258955 PMID:16288654 PMID:16304664 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17200167 PMID:17298551 PMID:17487275 PMID:17538171 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17884808 PMID:17943698 PMID:18057081 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19694205 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20614293 PMID:20702724 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22241717 PMID:22270996 PMID:22429592 PMID:22517554 PMID:22703879 PMID:22835832 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23407919 PMID:23512077 PMID:23660872 PMID:23666964 PMID:23735539 PMID:23780556 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24276837 PMID:24466223 PMID:24509376 PMID:24659481 PMID:24728327 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25130709 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25736212 PMID:25741868 PMID:25827221 PMID:25873086 PMID:25972245 PMID:26092435 PMID:26173966 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26916530 PMID:26960314 PMID:27171833 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:28070496 PMID:28152038 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30122763 PMID:30311386 PMID:30352407 PMID:163114641 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
Paragangliomas 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Paragangliomas 5 OMIM
ClinVar		 PMID:10746566 PMID:11423010 PMID:15989954 PMID:17376234 PMID:19628817 PMID:20484225 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22904323 PMID:22955521 PMID:23043141 PMID:23109135 PMID:23154507 PMID:23174939 PMID:23252569 PMID:23282968 PMID:23612575 PMID:23666964 PMID:23730622 PMID:23750034 PMID:24448499 PMID:24694336 PMID:24781757 PMID:25405498 PMID:25488574 PMID:25494863 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26334176 PMID:26490314 PMID:26722403 PMID:27011036 PMID:27390349 PMID:27493882 PMID:27847310 PMID:27895137 PMID:27986441 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28750076 PMID:28819017 PMID:29177515 PMID:29872718 PMID:29978154 PMID:30050099 PMID:30068732 PMID:30311386 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Paragangliomas 5 ClinVar NCBI chr17:63,825,616...63,914,740
Ensembl chr17:63,825,627...63,879,171 		JBrowse link
Paragangliomas 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: PARAGANGLIOMAS 6 OMIM
ClinVar		 PMID:29431636 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081 		JBrowse link
Paragangliomas 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: PARAGANGLIOMAS 7 OMIM
ClinVar		 PMID:30929736 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803 		JBrowse link
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss ClinVar PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11897817 PMID:12811540 PMID:15479192 PMID:17102085 PMID:19454582 PMID:21348866 PMID:21937622 PMID:22290790 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24436918 PMID:24758185 PMID:25014000 PMID:25326637 PMID:25494863 PMID:25695889 PMID:25741868 PMID:28492532 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of cellular proliferation 5923
      Neoplasms by Site 5288
        organ system benign neoplasm 468
          endocrine organ benign neoplasm 139
            pheochromocytoma 56
              paraganglioma 40
                Carney-Stratakis syndrome 23
                Extra-Adrenal Paraganglioma + 7
                Hereditary Paraganglioma-Pheochromocytoma Syndromes 8
                Paragangliomas 1 + 1
                Paragangliomas 2 1
                Paragangliomas 3 3
                Paragangliomas 4 2
                Paragangliomas 5 2
                Paragangliomas 6 1
                Paragangliomas 7 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                paraganglioma 40
                  Carney-Stratakis syndrome 23
                  Extra-Adrenal Paraganglioma + 7
                  Hereditary Paraganglioma-Pheochromocytoma Syndromes 8
                  Paragangliomas 1 + 1
                  Paragangliomas 2 1
                  Paragangliomas 3 3
                  Paragangliomas 4 2
                  Paragangliomas 5 2
                  Paragangliomas 6 1
                  Paragangliomas 7 1
paths to the root