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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 chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		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 8:13,253,697...13,273,672
Ensembl chr 8:13,253,706...13,271,911 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:12036912 RGD:619590
G Ciao1 cytosolic iron-sulfur assembly component 1 ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:25741868 PMID:26267327 PMID:26467025 PMID:28492532 PMID:33051659 More... NCBI chr 3:114,458,671...114,465,928
Ensembl chr 3:134,913,172...134,979,255 		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 chr 1:216,315,515...216,372,219
Ensembl chr 1:216,315,516...216,372,111 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas ClinVar PMID:25741868 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:110,489,392...110,514,357 		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 chr 1:216,521,402...216,522,630
Ensembl chr 1:216,520,677...216,524,310 		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: 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 PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 More... NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:101,369,988...101,395,549 		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 chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		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 chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:adrenal gland, chromaffin cell (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:33,241,521...33,276,859 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		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 chr 1:216,538,735...216,548,195
Ensembl chr 1:216,538,737...216,547,284 		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 Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | 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:7550341 PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		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: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata 		ClinVar PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:216,564,002...216,592,877
Ensembl chr 1:216,567,861...216,593,540 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | 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: 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 | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... RGD:1624151 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		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 Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant 		ClinVar
RGD		 PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15989954 More... RGD:1599507 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
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: Paraganglioma | 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 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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... RGD:1302858 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Sstr2 somatostatin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29163802 NCBI chr10:99,163,353...99,170,519
Ensembl chr10:99,162,740...99,183,863 		JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr 1:216,456,148...216,518,718
Ensembl chr 1:216,456,259...216,518,718 		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: 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 chr 3:114,466,095...114,478,894
Ensembl chr 3:134,919,414...134,932,550 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas ClinVar PMID:12624160 PMID:14722919 PMID:23164001 PMID:25683602 PMID:25741868 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		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 chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		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 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		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 chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044 		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 8:51,117,057...51,188,790
Ensembl chr 8:60,009,618...60,085,054 		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 8:51,410,774...51,425,802
Ensembl chr 8:60,317,121...60,322,167 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:59,976,623...59,990,901 		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 8:51,107,663...51,113,192
Ensembl chr 8:60,004,034...60,009,667 		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 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		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 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447 		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 8:50,979,151...51,004,435
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		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 8:51,111,831...51,118,253 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 8:51,385,931...51,409,796
Ensembl chr 8:60,283,904...60,305,377 		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 8:51,093,267...51,094,528
Ensembl chr 8:59,976,623...59,990,901 		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 8:51,363,928...51,384,748
Ensembl chr 8:60,263,456...60,281,418 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 8:51,410,244...51,410,327 JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 8:51,409,726...51,409,802 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 chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		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 8:50,955,650...50,966,915
Ensembl chr 8:59,852,726...59,863,181 		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 8:50,966,885...50,976,901
Ensembl chr 8:59,862,899...59,887,927 		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 8:51,521,813...51,548,819
Ensembl chr 8:60,436,844...60,445,176 		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 8:51,588,237...51,597,114
Ensembl chr 8:60,484,596...60,493,821 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:60,081,553...60,125,795 		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 | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:490809 PMID:9509062 PMID:11404820 PMID:11897817 PMID:12000816 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C 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 gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:17468193 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044 		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 gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		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 8:60,121,913...60,221,707
Ensembl chr 8:60,121,913...60,221,818 		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 8:50,954,350...50,955,730
Ensembl chr 8:59,850,728...59,852,962 		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 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		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 chr14:2,332,052...2,375,366
Ensembl chr14:2,332,497...2,375,695 		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: VENOUS MALFORMATIONS WITH GLOMUS CELLS
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,332,497...2,375,695 		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 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:16316337 RGD:1581416 NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:115,543,290...115,600,943 		JBrowse link
Glomus Tympanicum Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:20030694 RGD:8547978 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciao1 cytosolic iron-sulfur assembly component 1 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:25741868 PMID:26267327 PMID:26467025 PMID:28492532 PMID:33051659 More... NCBI chr 3:114,458,671...114,465,928
Ensembl chr 3:134,913,172...134,979,255 		JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:216,315,516...216,372,111 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:25741868 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:110,489,392...110,514,357 		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 chr 1:216,521,402...216,522,630
Ensembl chr 1:216,520,677...216,524,310 		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 6:95,636,859...95,662,204
Ensembl chr 6:101,369,988...101,395,549 		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 chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		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 chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		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 chr 1:216,538,735...216,548,195
Ensembl chr 1:216,538,737...216,547,284 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:7550341 PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:216,564,002...216,592,877
Ensembl chr 1:216,567,861...216,593,540 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		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 chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044 		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 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:22241717 PMID:26096992 PMID:28492532 NCBI chr 1:216,456,148...216,518,718
Ensembl chr 1:216,456,259...216,518,718 		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 chr 3:114,466,095...114,478,894
Ensembl chr 3:134,919,414...134,932,550 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12624160 PMID:14722919 PMID:23164001 PMID:25683602 PMID:25741868 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		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 chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		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:9536098 PMID:9683583 PMID:10323245 PMID:10657297 More... NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		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: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2 | ClinVar Annotator: match by term: Paragangliomas 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:216,564,002...216,592,877
Ensembl chr 1:216,567,861...216,593,540 		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: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		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: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | 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: 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 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal 		ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		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, extraadrenal and cervical paraganglioma
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
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044 		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 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
Paragangliomas 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:18057081 NCBI chr 5:153,209,053...153,251,632
Ensembl chr 5:158,492,066...158,534,662 		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 chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		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: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | 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 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667 		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 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		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:2674654 PMID:7550341 PMID:9536098 PMID:10721988 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Paragangliomas 5 ClinVar NCBI chr17:60,542,669...60,631,913
Ensembl chr17:65,234,045...65,323,276 		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:25741868 PMID:28492532 PMID:29431636 NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,855,979...55,859,060 		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 6:104,758,511...104,783,296
Ensembl chr 6:110,489,392...110,514,357 		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 8:50,944,702...50,954,298
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        organ system benign neoplasm 1304
          endocrine organ benign neoplasm 161
            pheochromocytoma 70
              paraganglioma 50
                Abdominal Chemodectomas with Cutaneous Angiolipomas 0
                Carney Triad 3
                Carney-Stratakis syndrome 24
                Carotid Body Tumor 1
                Glomus Jugulare Tumor 2
                Glomus Tympanicum Tumor 1
                Head and Neck Paraganglioma 0
                Hereditary Paraganglioma-Pheochromocytoma Syndromes 17
                Metastatic Paraganglioma 0
                Paragangliomas 1 + 2
                Paragangliomas 2 1
                Paragangliomas 3 5
                Paragangliomas 4 4
                Paragangliomas 5 2
                Paragangliomas 6 1
                Paragangliomas 7 1
                glomangioma + 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                paraganglioma 50
                  Abdominal Chemodectomas with Cutaneous Angiolipomas 0
                  Carney Triad 3
                  Carney-Stratakis syndrome 24
                  Carotid Body Tumor 1
                  Glomus Jugulare Tumor 2
                  Glomus Tympanicum Tumor 1
                  Head and Neck Paraganglioma 0
                  Hereditary Paraganglioma-Pheochromocytoma Syndromes 17
                  Metastatic Paraganglioma 0
                  Paragangliomas 1 + 2
                  Paragangliomas 2 1
                  Paragangliomas 3 5
                  Paragangliomas 4 4
                  Paragangliomas 5 2
                  Paragangliomas 6 1
                  Paragangliomas 7 1
                  glomangioma + 1
paths to the root