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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:gastrointestinal stromal tumor
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Accession:DOID:9253 term browser browse the term
Definition:All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).
Synonyms:exact_synonym: GANT;   GASTROINTESTINAL STROMA TUMOR;   GIST;   Gastrointestinal Stromal Neoplasm;   Gastrointestinal Stromal Sarcoma;   Stromal tumour of gastrointestinal tract;   gastrointestinal stromal neoplasms;   gastrointestinal stromal tumors;   gastrointestinal stromal tumour;   stromal tumor of gastrointestinal tract
 narrow_synonym: GASTROINTESTINAL STROMAL TUMOR OF SMALL INTESTINE;   GASTROINTESTINAL STROMAL TUMOR, SOMATIC;   Gastrointestinal stromal tumor, familial;   SMALL INTESTINAL GASTROINTESTINAL STROMAL TUMOR
 primary_id: MESH:D046152
 alt_id: OMIA:001516;   OMIM:606764;   RDO:0003371
 xref: GARD:8598;   ICD10CM:C49.A;   NCI:C158783;   NCI:C3868
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
gastrointestinal stromal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,622,996...89,632,485
Ensembl chr13:89,622,632...89,634,419
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors
ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine
ClinVar Annotator: match by term: Small Intestinal Gastrointestinal Stromal Tumor
ClinVar PMID:25741868, PMID:26530882, PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,774,764...89,796,113
Ensembl chr13:89,774,764...89,796,113
JBrowse link
G B4galt3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:89,643,847...89,649,880
Ensembl chr13:89,643,881...89,649,906
JBrowse link
G B9d1 B9 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Bag6 BAG cochaperone 6 disease_progression ISO RGD PMID:28197361 RGD:14390153 NCBI chr20:5,124,512...5,138,084
Ensembl chr20:5,125,349...5,138,084
JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr11:61,084,216...61,159,220
Ensembl chr11:61,083,757...61,158,838
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:12068308, PMID:12198537, PMID:12447372, PMID:12460918, PMID:12460919, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14679157, PMID:15001635, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16772349, PMID:17374713, PMID:17488796, PMID:17785355, PMID:18398503, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19238210, PMID:19404918, PMID:19537845, PMID:19561230, PMID:20008640, PMID:20350999, PMID:20413299, PMID:20619739, PMID:20630094, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22281684, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22805292, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23251002, PMID:23302800, PMID:23325582, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23685455, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23918947, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24717435, PMID:25024077, PMID:25037139, PMID:25079330, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25370471, PMID:25399551, PMID:25950823, PMID:25989278, PMID:26619011, PMID:26678033, PMID:27404270, PMID:27480103, PMID:28854169, PMID:28891408, PMID:29925953, PMID:31779674, PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cd244 CD244 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,959,091...89,995,993
Ensembl chr13:89,975,267...89,995,974
JBrowse link
G Cd3e CD3e molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
JBrowse link
G Dedd death effector domain-containing ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,706,932...89,721,825
Ensembl chr13:89,718,066...89,721,454
JBrowse link
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Tumors ClinVar PMID:25227144 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr13:101,451,932...101,597,570
Ensembl chr13:101,451,932...101,597,570
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 7:61,785,423...61,816,775
Ensembl chr 7:61,786,309...61,798,729
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G F11r F11 receptor ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,826,272...89,850,151
Ensembl chr13:89,826,254...89,850,612
JBrowse link
G Fcer1g Fc fragment of IgE receptor Ig ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,601,894...89,606,326
Ensembl chr13:89,601,896...89,606,326
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Tumors ClinVar PMID:25227144 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Gli3 GLI family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr10:11,154,459...11,177,063
Ensembl chr10:11,154,658...11,174,861
JBrowse link
G Hhat hedgehog acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr13:111,235,325...111,489,075
Ensembl chr13:111,236,466...111,474,411
JBrowse link
G Hhip Hedgehog-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr19:31,525,134...31,614,487
Ensembl chr19:31,524,671...31,614,246
JBrowse link
G Hipk1 homeodomain interacting protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 2:206,224,015...206,274,910
Ensembl chr 2:206,224,015...206,274,079
JBrowse link
G Hipk2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 4:66,438,390...66,625,183
Ensembl chr 4:66,445,266...66,624,912
JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Ift52 intraflagellar transport 52 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 3:159,388,868...159,413,358
Ensembl chr 3:159,392,193...159,413,575
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Itln1 intelectin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,919,570...89,929,774
Ensembl chr13:89,919,667...89,929,770
JBrowse link
G Kif3a kinesin family member 3a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr10:38,918,705...38,953,958
Ensembl chr10:38,918,748...38,952,785
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial
ClinVar Annotator: match by term: Gastrointestinal stromal tumors
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by OMIM:606764
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:1279971, PMID:1720553, PMID:7479840, PMID:7513208, PMID:7529964, PMID:7530509, PMID:7687267, PMID:7691885, PMID:8589724, PMID:9438854, PMID:9657776, PMID:9797363, PMID:9827716, PMID:9990072, PMID:10224103, PMID:10362788, PMID:10680913, PMID:11073817, PMID:11208730, PMID:11276010, PMID:11380399, PMID:11493470, PMID:11505412, PMID:11526490, PMID:11984533, PMID:12697809, PMID:12878163, PMID:12960119, PMID:14977822, PMID:15194144, PMID:15236194, PMID:15685537, PMID:15790786, PMID:15824741, PMID:15837988, PMID:15897563, PMID:15972446, PMID:16046538, PMID:16081693, PMID:16183119, PMID:16226710, PMID:16307017, PMID:16327443, PMID:16352739, PMID:16384925, PMID:16638875, PMID:16731599, PMID:16740725, PMID:16741525, PMID:16751810, PMID:16908931, PMID:16912224, PMID:16954519, PMID:17001171, PMID:17065430, PMID:17107413, PMID:17124503, PMID:17259998, PMID:17363509, PMID:17372901, PMID:17489795, PMID:17525721, PMID:17699867, PMID:17710669, PMID:17824795, PMID:17904548, PMID:17943734, PMID:18024392, PMID:18421059, PMID:18448188, PMID:18510589, PMID:18830255, PMID:18936790, PMID:18955458, PMID:18980976, PMID:18986703, PMID:19164557, PMID:19175693, PMID:19262599, PMID:19671763, PMID:19737976, PMID:19812602, PMID:19861435, PMID:19865100, PMID:19996579, PMID:20028860, PMID:20140688, PMID:20147452, PMID:20205869, PMID:20339585, PMID:20545949, PMID:20616902, PMID:20736294, PMID:20890793, PMID:21119596, PMID:21159146, PMID:21279555, PMID:21569090, PMID:21642685, PMID:21689725, PMID:21690468, PMID:22160160, PMID:22261812, PMID:22355224, PMID:22357254, PMID:22504184, PMID:22703879, PMID:22932406, PMID:23020152, PMID:23106360, PMID:23149070, PMID:23582185, PMID:23593539, PMID:23598963, PMID:23610110, PMID:23714533, PMID:24045550, PMID:24205792, PMID:24531699, PMID:24582309, PMID:24661573, PMID:24687822, PMID:24728327, PMID:24755198, PMID:24847623, PMID:25079768, PMID:25139846, PMID:25157968, PMID:25176472, PMID:25243845, PMID:25504284, PMID:25637381, PMID:25741868, PMID:25975190, PMID:26158763, PMID:26619011, PMID:26822237, PMID:27023146, PMID:27214377, PMID:27258816, PMID:27771813, PMID:27777718, PMID:27793025, PMID:27981619, PMID:28327988, PMID:28492532, PMID:28520972, PMID:28724667, PMID:29146883, PMID:30311386, PMID:30374176, PMID:31775759 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Klhdc9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:89,742,750...89,746,254
Ensembl chr13:89,742,750...89,745,835
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:12460918, PMID:15696205, PMID:16361624, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19018267, PMID:19114683, PMID:19679400, PMID:19794967, PMID:20921462, PMID:20921465, PMID:21228335, PMID:21975775, PMID:22282465, PMID:23182985, PMID:25157968 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Ly9 lymphocyte antigen 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:90,002,779...90,022,346
Ensembl chr13:90,002,783...90,022,269
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic ClinVar PMID:25741868 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545395, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10677336, PMID:10732818, PMID:10869114, PMID:10930360, PMID:10958762, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11590551, PMID:11742092, PMID:11752418, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:11938441, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15543147, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:15951337, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16244782, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:8968737, PMID:9013615, PMID:10323741, PMID:12154064, PMID:12375236, PMID:12923861, PMID:25227144 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Tumors
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar PMID:9501215, PMID:10444342, PMID:10500018, PMID:10930360, PMID:12375236, PMID:12923861, PMID:15797993, PMID:15979034, PMID:16013960, PMID:18368069, PMID:22992668, PMID:25227144, PMID:25741868 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378
JBrowse link
G Nit1 nitrilase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,722,370...89,725,806
Ensembl chr13:89,722,374...89,725,806
JBrowse link
G Nme7 NME/NM23 family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr13:82,607,844...82,737,383
Ensembl chr13:82,626,685...82,737,343
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:16258955, PMID:19351833, PMID:23666964, PMID:28492532 NCBI chr 5:159,428,479...159,471,113
Ensembl chr 5:159,428,515...159,471,144
JBrowse link
G Pcp4l1 Purkinje cell protein 4-like 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,542,377...89,565,920
Ensembl chr13:89,542,378...89,565,813
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Gastrointestinal stromal tumor
ClinVar Annotator: match by term: Gastrointestinal stroma tumor
ClinVar Annotator: match by term: Gastrointestinal stromal tumors
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by OMIM:606764
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12522257, PMID:12949711, PMID:14645423, PMID:14699510, PMID:15146165, PMID:15685537, PMID:15928335, PMID:16638875, PMID:16954519, PMID:17087936, PMID:17087943, PMID:17566086, PMID:17568391, PMID:18794084, PMID:20028860, PMID:20071345, PMID:20169295, PMID:22473090, PMID:22703879, PMID:22718859, PMID:22745105, PMID:23752188, PMID:24033266, PMID:24728327, PMID:24969172, PMID:25107291, PMID:25157968, PMID:25336117, PMID:25741868, PMID:26130666, PMID:26580448, PMID:26928227, PMID:27153395, PMID:27701467, PMID:28492532, PMID:28592523, PMID:29978744, PMID:30359545, PMID:30389923 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pfdn2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,725,113...89,743,849
Ensembl chr13:89,725,869...89,743,848
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptch2 patched 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rpl24 ribosomal protein L24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr11:47,116,885...47,122,093
Ensembl chr11:47,116,886...47,122,095
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor
ClinVar Annotator: match by term: Gastrointestinal stroma tumor
ClinVar Annotator: match by term: Gastrointestinal stromal tumors
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
ClinVar Annotator: match by OMIM:606764
OMIM
ClinVar
PMID:490809, PMID:1523504, PMID:2308387, PMID:7143317, PMID:9509062, PMID:11404820, PMID:11897817, PMID:12000816, PMID:12205103, PMID:12213855, PMID:12351569, PMID:12362046, PMID:12364472, PMID:12560550, PMID:12618761, PMID:12807974, PMID:14500403, PMID:14643060, PMID:14685938, PMID:14715873, PMID:14974914, PMID:14985401, PMID:15235042, PMID:15328326, PMID:15473885, PMID:15476441, PMID:15531530, PMID:15883710, PMID:15987702, PMID:15988378, PMID:15989954, PMID:16001332, PMID:16103922, PMID:16258955, PMID:16288654, PMID:16304664, PMID:16314641, PMID:16317055, PMID:16322339, PMID:16405730, PMID:16472267, PMID:16912137, PMID:16916404, PMID:16982587, PMID:17102082, PMID:17102083, PMID:17102084, PMID:17102086, 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:17987308, PMID:18057081, PMID:18362451, PMID:18382370, PMID:18419787, PMID:18519664, PMID:18551016, PMID:18678321, PMID:18728283, PMID:18753105, PMID:18840642, PMID:19001511, PMID:19029228, PMID:19064958, PMID:19075037, PMID:19184535, PMID:19189136, PMID:19215943, PMID:19258401, PMID:19341833, PMID:19351833, PMID:19368708, PMID:19389109, PMID:19393419, PMID:19399650, PMID:19411806, PMID:19415531, PMID:19454582, PMID:19522823, PMID:19576851, PMID:19596260, PMID:19694205, PMID:19763152, PMID:19763184, PMID:19802898, PMID:19825962, PMID:19927285, PMID:20119652, PMID:20208144, PMID:20213850, PMID:20301715, PMID:20307669, PMID:20418362, PMID:20459544, PMID:20503330, PMID:20540712, PMID:20583550, PMID:20592014, PMID:20614293, PMID:20923864, PMID:21172883, PMID:21173220, PMID:21348866, PMID:21520333, PMID:21565294, PMID:21784903, PMID:21820839, PMID:21909610, PMID:21934479, PMID:21979946, PMID:22109755, PMID:22270996, PMID:22293219, PMID:22406018, PMID:22492777, PMID:22517554, PMID:22517557, PMID:22566194, PMID:22703879, PMID:22829200, PMID:22835832, PMID:22904323, PMID:22972948, PMID:22995991, PMID:23072324, PMID:23083876, PMID:23154831, PMID:23175444, PMID:23282968, PMID:23434467, PMID:23512077, PMID:23660872, PMID:23666964, PMID:23707781, PMID:23735539, PMID:23780556, 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:24758379, PMID:24781345, PMID:24939699, PMID:24977658, PMID:25025441, PMID:25047027, PMID:25130709, PMID:25215250, PMID:25298897, PMID:25326637, PMID:25333069, PMID:25371406, PMID:25394176, PMID:25405498, PMID:25494863, PMID:25595276, PMID:25637381, PMID:25683602, PMID:25694510, PMID:25695889, PMID:25720320, PMID:25736212, PMID:25741868, PMID:25791839, PMID:25825477, PMID:25873086, PMID:25972245, PMID:25987131, PMID:26092435, PMID:26096992, PMID:26173966, PMID:26198225, PMID:26236513, PMID:26259135, PMID:26267327, PMID:26269449, PMID:26273102, PMID:26283294, PMID:26302408, PMID:26332594, PMID:26467025, PMID:26556299, PMID:26642834, PMID:26719882, PMID:26729832, PMID:26916530, PMID:26925370, PMID:26960314, PMID:27159321, PMID:27171833, PMID:27279923, PMID:27539324, PMID:27542510, PMID:27549546, PMID:27573198, PMID:27604842, PMID:27785149, PMID:27819762, PMID:27867439, PMID:27896548, PMID:27974047, PMID:28070496, PMID:28152038, PMID:28229225, PMID:28255624, 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:30050099, PMID:30122763, PMID:30217213, PMID:30311386, PMID:30352407, PMID:30694796, 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: Gastrointestinal stromal tumor
ClinVar Annotator: match by term: Gastrointestinal stroma tumor
ClinVar Annotator: match by term: Gastrointestinal stromal tumors
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic
OMIM
ClinVar
PMID:11062460, PMID:12658451, PMID:12807974, PMID:15342702, PMID:15989954, PMID:16249420, PMID:17298551, PMID:17376234, PMID:17636259, PMID:17667967, PMID:17804857, PMID:17898811, PMID:18212813, PMID:19332149, PMID:19351833, PMID:19454582, PMID:19546167, PMID:19906784, PMID:21106325, PMID:21173220, PMID:21348866, PMID:21520333, PMID:21979946, PMID:22136840, PMID:22351710, PMID:22517554, PMID:22517557, PMID:22703879, PMID:22829200, PMID:22868853, PMID:23083876, PMID:23162105, PMID:23175444, PMID:23282968, PMID:23512077, PMID:23666964, PMID:24033266, PMID:24102379, PMID:24150194, PMID:24402737, PMID:24423348, PMID:24466223, PMID:24523625, PMID:24728327, PMID:24758179, PMID:24781345, PMID:25024072, PMID:25394176, PMID:25494863, PMID:25637381, PMID:25741868, PMID:25950479, PMID:26162468, PMID:26173966, PMID:26273102, PMID:26467025, PMID:26492543, PMID:27153395, PMID:27262318, PMID:27279923, PMID:27485256, PMID:27700540, PMID:27867439, PMID:28202063, PMID:28412079, PMID:28492532, PMID:28819017, PMID:28873162, PMID:29386252, PMID:31308404 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Tumors ClinVar PMID:25227144 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Tumors ClinVar PMID:25227144 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Stk36 serine/threonine kinase 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 9:81,880,175...81,908,014
Ensembl chr 9:81,880,177...81,907,273
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmem17 transmembrane protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr14:107,268,235...107,308,546
Ensembl chr14:107,268,128...107,308,542
JBrowse link
G Tmem231 transmembrane protein 231 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
G Tomm40l translocase of outer mitochondrial membrane 40 like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,590,076...89,595,287
Ensembl chr13:89,591,718...89,594,738
JBrowse link
G Tstd1 thiosulfate sulfurtransferase like domain containing 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,805,652...89,807,355
Ensembl chr13:89,805,962...89,807,243
JBrowse link
G Tulp3 TUB like protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 4:161,636,084...161,677,807
Ensembl chr 4:161,637,892...161,658,519
JBrowse link
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,661,763...89,668,513
Ensembl chr13:89,661,763...89,668,473
JBrowse link
G Usf1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,797,750...89,805,561
Ensembl chr13:89,797,800...89,805,558
JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr13:89,655,016...89,661,150
Ensembl chr13:89,655,064...89,661,150
JBrowse link
G Zbtb11 zinc finger and BTB domain containing 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr11:47,079,201...47,113,993
Ensembl chr11:47,079,234...47,113,993
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: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
    disease of cellular proliferation 5918
      cancer 4242
        organ system cancer 4067
          gastrointestinal system cancer 1272
            gastrointestinal stromal tumor 106
              Carney-Stratakis syndrome 23
              Plexosarcoma 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of cellular proliferation 5918
      Neoplasms by Site 5283
        Digestive System Neoplasms 1911
          Gastrointestinal Neoplasms 1771
            gastrointestinal system cancer 1272
              gastrointestinal stromal tumor 106
                Carney-Stratakis syndrome 23
                Plexosarcoma 0
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.