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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:Carney-Stratakis syndrome
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Accession:DOID:0080533 term browser browse the term
Definition:A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)
Synonyms:exact_synonym: GIST;   paraganglioma and gastric stromal sarcoma;   paraganglioma and gastrointestinal stromal tumor
 primary_id: MESH:C564650
 alt_id: OMIM:606864
 xref: GARD:10643;   ORDO:97286
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Carney-Stratakis syndrome 23
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                paraganglioma 38
                  Carney-Stratakis syndrome 23
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.