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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:Sotos syndrome
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Accession:DOID:14748 term browser browse the term
Definition:A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. (DO)
Synonyms:exact_synonym: Soto syndrome;   Soto's syndrome;   Sotos sequence;   Sotos' syndrome;   cerebral gigantism;   cerebral gigantisms;   chromosome 5q35 deletion syndrome
 primary_id: MESH:D058495
 xref: EFO:0004147;   GARD:10091;   MONDO:0019349;   NCI:C75019;   OMIM:PS117550;   ORDO:821
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Sotos syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral gigantism | ClinVar Annotator: match by term: Sotos syndrome		 CTD
ClinVar
RGD		 PMID:11896389 PMID:12464997 PMID:12525543 PMID:12676901 PMID:12807965 More... RGD:9590145 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
Sotos syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821 		JBrowse link
G Arl10 ADP-ribosylation factor like GTPase 10 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,030,209...10,038,664
Ensembl chr17:10,030,213...10,038,703 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784 		JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575 		JBrowse link
G Clk4 CDC-like kinase 4 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,523,382...35,541,387
Ensembl chr10:35,524,755...35,541,352 		JBrowse link
G Cltb clathrin, light chain B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,001,512...10,019,201
Ensembl chr17:10,001,513...10,019,169 		JBrowse link
G Col23a1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,549,090...35,839,152
Ensembl chr10:35,549,113...35,836,314 		JBrowse link
G Cplx2 complexin 2 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,219,577...10,292,835
Ensembl chr17:10,222,347...10,293,855 		JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415 		JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188 		JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,947,216...9,989,474
Ensembl chr17:9,947,220...9,989,485 		JBrowse link
G Fam193b family with sequence similarity 193, member B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,863,641...9,876,832
Ensembl chr17:9,863,571...9,876,915 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,177,018...9,192,644
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Higd2a HIG1 hypoxia inducible domain family, member 2A ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,021,853...10,022,777
Ensembl chr17:10,021,859...10,022,796 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863 		JBrowse link
G Hnrnpab heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,857,040...35,862,935
Ensembl chr10:35,857,041...35,863,344 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265 		JBrowse link
G LOC306766 hypothetical LOC306766 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,049,142...10,061,819
Ensembl chr17:10,049,160...10,061,819 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157 		JBrowse link
G N4bp3 Nedd4 binding protein 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,898,031...35,906,704
Ensembl chr10:35,899,096...35,907,001 		JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545 		JBrowse link
G Nop16 NOP16 nucleolar protein ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,022,950...10,027,867
Ensembl chr17:10,022,932...10,027,867 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12464997 PMID:12676901 PMID:12807965 PMID:14517949 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,217,595...9,218,122 JBrowse link
G Phykpl 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,839,965...35,863,631
Ensembl chr10:35,839,983...35,859,508 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Simc1 SUMO-interacting motifs containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,061,752...10,106,938
Ensembl chr17:10,061,757...10,106,910 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Spata31d1c spermatogenesis associated 31 subfamily D, member 1C ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:160,144...164,208
Ensembl chr17:159,398...164,270 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Thoc3 THO complex subunit 3 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,143,184...10,152,375
Ensembl chr17:10,143,139...10,152,370 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526 		JBrowse link
G Zfp2 zinc finger protein 2 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,209,187...35,228,849
Ensembl chr10:35,207,260...35,228,853 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr17:9,493,789...9,523,681
Ensembl chr17:9,493,803...9,523,635 		JBrowse link
G Zfp354a zinc finger protein 354A ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,396,242...35,408,065
Ensembl chr10:35,396,231...35,408,068 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674 		JBrowse link
G Znf354b zinc finger protein 354B ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,233,783...35,251,110
Ensembl chr10:35,185,028...35,245,505 		JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Sotos syndrome 1 ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505 		JBrowse link
Sotos syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Malan overgrowth syndrome OMIM
ClinVar		 PMID:8910820 PMID:20673863 PMID:20949508 PMID:22301465 PMID:24088041 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
Sotos syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO RGD PMID:25753423 RGD:11055469 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Sotos syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:25753423 PMID:28492532 PMID:33161245 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Sotos syndrome 67
        Sotos syndrome 1 64
        Sotos syndrome 2 1
        Sotos syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            autosomal genetic disease 9299
              Sotos syndrome 67
                Sotos syndrome 1 64
                Sotos syndrome 2 1
                Sotos syndrome 3 2
paths to the root