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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:Beckwith-Wiedemann syndrome
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Accession:DOID:5572 term browser browse the term
Definition:A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (DO)
Synonyms:exact_synonym: AUTOSOMAL DOMINANT KCNQ1-RELATED DISEASE;   BWS;   EMG Syndrome;   EMG Syndromes;   Exomphalos-Macroglossia-Gigantism Syndrome;   KCNQ1-RELATED CONDITION;   WBS;   Wiedemann Beckwith syndromes (WBS);   Wiedemann-Beckwith syndrome (WBS)
 narrow_synonym: BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION;   BWCR
 primary_id: MESH:D001506
 alt_id: MIM:130650
 xref: GARD:3343;   MONDO:0007534;   NCI:C34415;   ORDO:116
For additional species annotation, visit the Alliance of Genome Resources.


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Beckwith-Wiedemann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano9 anoctamin 9 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,208,863...196,230,381
Ensembl chr 1:196,197,341...196,229,900 		JBrowse link
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406 		JBrowse link
G B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,171,394...196,182,294
Ensembl chr 1:196,171,394...196,182,294 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome
OMIM:130650
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: KCNQ1-related condition		 OMIM
CTD
ClinVar
MouseDO		 PMID:8841187 PMID:9311733 PMID:9341892 PMID:9536098 PMID:10323243 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: EMG Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30165906 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:18836444 PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151 		JBrowse link
G Ifitm2 interferon induced transmembrane protein 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,051,539...196,052,719
Ensembl chr 1:196,051,537...196,052,741 		JBrowse link
G Ifitm3 interferon induced transmembrane protein 3 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,111,026...196,112,135
Ensembl chr 1:196,111,043...196,112,203 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome		 CTD
ClinVar		 PMID:8252039 PMID:9349812 PMID:21910219 PMID:25427884 PMID:25741868 More... NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:25741868 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:25741868 PMID:28492532 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome
ClinVar Annotator: match by term: Autosomal dominant KCNQ1-related disease | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: KCNQ1-related condition		 CTD
ClinVar		 PMID:234416 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,278,886...197,279,893 JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:18836444 PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		JBrowse link
G Nlrp6 NLR family, pyrin domain containing 6 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,004,854...196,011,615
Ensembl chr 1:196,004,953...196,011,113 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome ClinVar PMID:12464997 PMID:12807965 PMID:14571271 PMID:15942875 PMID:16232326 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,187,914...196,198,843
Ensembl chr 1:196,187,835...196,198,844 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Psmd13 proteasome 26S subunit, non-ATPase 13 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:195,964,617...195,976,895
Ensembl chr 1:195,964,138...195,976,905 		JBrowse link
G Ptdss2 phosphatidylserine synthase 2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,241,439...196,267,632
Ensembl chr 1:196,241,494...196,267,685 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770 		JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Sigirr single Ig and TIR domain containing ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,195,363...196,208,692
Ensembl chr 1:196,199,462...196,202,269 		JBrowse link
G Sirt3 sirtuin 3 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISS OMIM:130650 MouseDO NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome ClinVar PMID:21910219 PMID:25427884 PMID:28492532 NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Beckwith-Wiedemann syndrome 72
        Franceschini Vardeu Guala syndrome 0
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          chromosomal disease 3046
            Beckwith-Wiedemann syndrome 72
              Franceschini Vardeu Guala syndrome 0
paths to the root