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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:Williams-Beuren syndrome
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Accession:DOID:1928 term browser browse the term
Definition:A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (DO)
Synonyms:exact_synonym: Beuren syndrome;   Fanconi Schlesinger syndrome;   WBS;   WMS;   WS;   Williams contiguous gene syndrome;   Williams syndrome;   chromosome 7q11.23 deletion syndrome;   chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-MB;   hypercalcemia supravalvar aortic stenosis;   hypercalcemia-supravalvar aortic stenoses;   supravalvar aortic stenosis syndrome
 primary_id: MESH:D018980
 alt_id: OMIM:194050
 xref: ICD10CM:Q93.82;   NCI:C85232;   ORDO:904
For additional species annotation, visit the Alliance of Genome Resources.



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Williams-Beuren syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398
JBrowse link
G Abhd11-as1 ABHD11 antisense RNA 1 (tail to tail) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,681,118...21,682,106 JBrowse link
G Baz1b bromodomain adjacent to zinc finger domain, 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:16448863 NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426
JBrowse link
G Bcl7b BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,496,856...21,510,202
Ensembl chr12:21,496,856...21,510,202
JBrowse link
G Bud23 BUD23, rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751
JBrowse link
G Cldn3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
JBrowse link
G Cldn4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
JBrowse link
G Clip2 CAP-GLY domain containing linker protein 2 ISO
ISS
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
ClinVar
MouseDO
RGD
PMID:12195424 RGD:734863 NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20952458 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,628,323...21,629,389
Ensembl chr12:21,626,450...21,629,408
JBrowse link
G Eif4h eukaryotic translation initiation factor 4H ISO
ISS
ClinVar Annotator: match by term: Williams syndrome
OMIM:194050
ClinVar
MouseDO
RGD
PMID:8812460 RGD:1580597 NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Williams syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25741868 PMID:28492532 PMID:7545578 PMID:10533027 RGD:7207897, RGD:9585755 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fkbp6 FKBP prolyl isomerase family member 6 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD
PMID:9782077 RGD:1582483 NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
JBrowse link
G Fzd3 frizzled class receptor 3 ISO RGD PMID:9147651 RGD:1582654 NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
JBrowse link
G Fzd9 frizzled class receptor 9 ISS
ISO
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:20007321 PMID:21328569 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
PMID:20007321 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040
JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar
RGD
PMID:11003705 RGD:1549872 NCBI chr12:22,104,163...22,118,294
Ensembl chr12:22,104,219...22,118,288
JBrowse link
G Limk1 LIM domain kinase 1 ISS
ISO
OMIM:194050
ClinVar Annotator: match by term: Williams syndrome
MouseDO
ClinVar
NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
JBrowse link
G Lox lysyl oxidase ISS OMIM:194050 MouseDO NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Mettl27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685
JBrowse link
G Mlxipl MLX interacting protein-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Williams syndrome
CTD
ClinVar
NCBI chr12:21,542,964...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO RGD PMID:16532385 RGD:1624399 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nsun5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272
JBrowse link
G Rcc1l RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036
JBrowse link
G Rfc2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISS OMIM:194050 MouseDO NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Stx1a syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,517,600...21,532,114
Ensembl chr12:21,520,682...21,531,896
JBrowse link
G Tmem270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731
JBrowse link
G Trim50 tripartite motif-containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668
JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      chromosomal deletion syndrome 1005
        Williams-Beuren syndrome 32
          7q11.23 duplication syndrome 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Williams-Beuren syndrome 32
                      7q11.23 duplication syndrome 0
paths to the root