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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 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ARL10 ADP ribosylation factor like GTPase 10 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,365,487...176,415,063
Ensembl chr 5:176,365,487...176,401,865 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G C5orf60 chromosome 5 open reading frame 60 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,641,544...179,645,046
Ensembl chr 5:179,641,544...179,658,432 		JBrowse link
G CANX calnexin IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,678,656...179,731,641
Ensembl chr 5:179,678,628...179,731,641 		JBrowse link
G CBY3 chibby family member 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,678,560...179,681,034
Ensembl chr 5:179,678,560...179,681,034 		JBrowse link
G CDHR2 cadherin related family member 2 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,542,511...176,595,974
Ensembl chr 5:176,542,511...176,595,974 		JBrowse link
G CLK4 CDC like kinase 4 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,602,664...178,627,050
Ensembl chr 5:178,602,664...178,630,615 		JBrowse link
G CLTB clathrin light chain B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,392,455...176,416,569
Ensembl chr 5:176,392,501...176,416,539 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,237,618...178,590,393
Ensembl chr 5:178,237,476...178,590,393 		JBrowse link
G CPLX2 complexin 2 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:175,796,533...175,884,021
Ensembl chr 5:175,796,310...175,884,021 		JBrowse link
G DBN1 drebrin 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,456,610...177,473,634
Ensembl chr 5:177,456,608...177,474,401 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DOK3 docking protein 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,501,904...177,511,100
Ensembl chr 5:177,501,904...177,511,274 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,630,675...176,646,644
Ensembl chr 5:176,630,618...176,646,644 		JBrowse link
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G FAF2 Fas associated factor family member 2 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,448,385...176,510,074
Ensembl chr 5:176,447,628...176,510,074 		JBrowse link
G FAM153A family with sequence similarity 153 member A IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,694,247...177,783,425
Ensembl chr 5:177,707,981...177,784,435 		JBrowse link
G FAM153B family with sequence similarity 153 member B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,063,055...176,127,142
Ensembl chr 5:176,058,717...176,159,271 		JBrowse link
G FAM193B family with sequence similarity 193 member B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,519,788...177,554,563
Ensembl chr 5:177,519,789...177,554,586 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,595,802...176,610,156
Ensembl chr 5:176,595,802...176,610,156 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,425,523...177,442,891
Ensembl chr 5:177,403,204...177,442,901 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,978,327...178,995,320
Ensembl chr 5:178,977,587...178,996,206 		JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,388,751...176,389,761
Ensembl chr 5:176,388,751...176,389,761 		JBrowse link
G HK3 hexokinase 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:176,880,869...176,899,346
Ensembl chr 5:176,880,869...176,899,346 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,204,533...178,211,163
Ensembl chr 5:178,204,533...178,211,163 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G KIAA1191 KIAA1191 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,346,061...176,361,807
Ensembl chr 5:176,346,062...176,361,807 		JBrowse link
G LMAN2 lectin, mannose binding 2 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,331,567...177,351,668
Ensembl chr 5:177,315,805...177,351,840 		JBrowse link
G LOC121740633 NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:176559765-176560316 and GRCh37_chr5:176560317-176560870 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar NCBI chr 5:177,132,764...177,133,869 JBrowse link
G LOC126807619 MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:12807965 PMID:14571271 PMID:15942875 PMID:16199547 More... NCBI chr 5:177,269,442...177,270,641 JBrowse link
G LOC129995362 ATAC-STARR-seq lymphoblastoid silent region 16676 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18505455 More... NCBI chr 5:177,159,657...177,159,786 JBrowse link
G LTC4S leukotriene C4 synthase IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,793,986...179,796,647
Ensembl chr 5:179,793,980...179,796,647 		JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,732,822...179,777,283
Ensembl chr 5:179,732,822...179,777,283 		JBrowse link
G MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,797,597...179,806,866
Ensembl chr 5:179,797,597...179,806,952 		JBrowse link
G MXD3 MAX dimerization protein 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,305,499...177,312,752
Ensembl chr 5:177,301,461...177,312,757 		JBrowse link
G N4BP3 NEDD4 binding protein 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,113,532...178,127,034
Ensembl chr 5:178,113,532...178,126,081 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP16 NOP16 nucleolar protein IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,383,946...176,388,598
Ensembl chr 5:176,383,946...176,388,927 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Sotos syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11896389 PMID:12464997 PMID:12525543 PMID:12676901 More... RGD:9590145 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,483,394...177,497,604
Ensembl chr 5:177,483,394...177,497,606 		JBrowse link
G PFN3 profilin 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,400,109...177,400,661
Ensembl chr 5:177,400,109...177,400,661 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,207,144...178,232,822
Ensembl chr 5:178,208,471...178,232,802 		JBrowse link
G PRELID1 PRELI domain containing 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,303,799...177,306,949
Ensembl chr 5:177,303,799...177,306,949 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PRR7 proline rich 7, synaptic IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,445,995...177,456,286
Ensembl chr 5:177,446,445...177,456,286 		JBrowse link
G RAB24 RAB24, member RAS oncogene family IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,301,198...177,303,719
Ensembl chr 5:177,301,198...177,303,744 		JBrowse link
G RGS14 regulator of G protein signaling 14 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,357,924...177,372,596
Ensembl chr 5:177,357,924...177,372,596 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,131,014...178,150,568
Ensembl chr 5:178,130,996...178,150,568 		JBrowse link
G RNF44 ring finger protein 44 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,526,712...176,543,513
Ensembl chr 5:176,526,712...176,538,025 		JBrowse link
G RUFY1 RUN and FYVE domain containing 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,550,554...179,610,012
Ensembl chr 5:179,550,554...179,610,012 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SIMC1 SUMO interacting motifs containing 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,238,424...176,345,989
Ensembl chr 5:176,238,367...176,345,991 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SNCB synuclein beta IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556 		JBrowse link
G SQSTM1 sequestosome 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G THOC3 THO complex subunit 3 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:175,959,531...175,968,315
Ensembl chr 5:175,917,873...176,034,680 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,592,203...177,597,242
Ensembl chr 5:177,592,203...177,597,242 		JBrowse link
G TSPAN17 tetraspanin 17 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:176,647,484...176,659,051
Ensembl chr 5:176,647,387...176,659,054 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:176,905,005...177,022,602
Ensembl chr 5:176,905,005...177,022,633 		JBrowse link
G UNC5A unc-5 netrin receptor A IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:176,810,559...176,880,898
Ensembl chr 5:176,810,519...176,880,898 		JBrowse link
G ZFP2 ZFP2 zinc finger protein IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,895,913...178,933,212
Ensembl chr 5:178,895,898...178,933,212 		JBrowse link
G ZNF346 zinc finger protein 346 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:16770806 More... NCBI chr 5:177,022,696...177,081,189
Ensembl chr 5:177,022,696...177,081,189 		JBrowse link
G ZNF354A zinc finger protein 354A IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,711,512...178,730,659
Ensembl chr 5:178,711,512...178,730,659 		JBrowse link
G ZNF354B zinc finger protein 354B IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,859,953...178,885,020
Ensembl chr 5:178,859,953...178,888,122 		JBrowse link
G ZNF354C zinc finger protein 354C IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,060,373...179,083,977
Ensembl chr 5:179,060,373...179,083,977 		JBrowse link
G ZNF454 zinc finger protein 454 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:178,941,198...178,990,028
Ensembl chr 5:178,941,191...178,966,433 		JBrowse link
G ZNF879 zinc finger protein 879 IAGP ClinVar Annotator: match by term: Sotos syndrome ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 5:179,023,804...179,035,064
Ensembl chr 5:179,023,804...179,035,064 		JBrowse link
Sotos syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: SOTOS SYNDROME 1 ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G LOC126807619 MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 IAGP ClinVar Annotator: match by term: SOTOS SYNDROME 1 ClinVar PMID:12464997 PMID:25741868 PMID:28492532 NCBI chr 5:177,269,442...177,270,641 JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: NSD1-related condition
ClinVar Annotator: match by term: SOTOS SYNDROME 1		 OMIM
ClinVar		 PMID:12464997 PMID:14517949 PMID:14571271 PMID:15942875 PMID:16247291 More... NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: SOTOS SYNDROME 1 ClinVar PMID:1659948 PMID:2173143 PMID:7809121 PMID:8044656 PMID:8388676 More... NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		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 IAGP
ISS		 ClinVar Annotator: match by term: Malan overgrowth syndrome
OMIM:614753		 ClinVar
MouseDO
OMIM		 PMID:8910820 PMID:20673863 PMID:20949508 PMID:22301465 PMID:24088041 More... NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		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 9:137,174,784...137,188,560
Ensembl chr 9:137,174,784...137,188,560 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: APC2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G LOC130062956 ATAC-STARR-seq lymphoblastoid silent region 9718 IAGP ClinVar Annotator: match by term: APC2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,468,999...1,469,178 JBrowse link
G LOC130062957 ATAC-STARR-seq lymphoblastoid silent region 9719 IAGP ClinVar Annotator: match by term: APC2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,469,489...1,469,538 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      Sotos syndrome 75
        Sotos syndrome 1 4
        Sotos syndrome 2 1
        Sotos syndrome 3 4
Path 2
Term Annotations click to browse term
  disease 35756
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24648
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              Sotos syndrome 75
                Sotos syndrome 1 4
                Sotos syndrome 2 1
                Sotos syndrome 3 4
paths to the root