Disease table of BECKWITH-WIEDEMANN SYNDROME OMIM ID: 130650

Gene-disease associations table

GeneAssociated with BECKWITH-WIEDEMANN SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CDKN1CClinVar, OMIM, HUMSAVARHGNC link11p15.42130650, 614732
H19ClinVar, OMIMHGNC link11p15.53130650, PS194070, 180860
ICR1OMIMHGNC link11-1130650
KCNQ1OT1OMIMHGNC link11p15.51130650
NSD1ClinVar, OMIMHGNC link5q35.33601626, 130650, PS117550

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11p15.52KCNQ1OT1, H19
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11p153CDKN1C, KCNQ1OT1, H19
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11p13CDKN1C, KCNQ1OT1, H19
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11p3CDKN1C, KCNQ1OT1, H19
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
113CDKN1C, KCNQ1OT1, H19
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
NSD1YES1AR0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CDKN1CYES4VHL, KLF4, PROX1, HOXA100
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052CDKN1C, NSD1
transferase activity (GO:0016740) 1.952CDKN1C, NSD1
binding (GO:0005488) 0.182CDKN1C, NSD1
protein binding (GO:0005515) 0.462CDKN1C, NSD1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292CDKN1C, NSD1
negative regulation of metabolic process (GO:0009892) 1.932NSD1, CDKN1C
regulation of primary metabolic process (GO:0080090) 1.082CDKN1C, NSD1
regulation of metabolic process (GO:0019222) 1.022CDKN1C, NSD1
positive regulation of biosynthetic process (GO:0009891) 2.292NSD1, CDKN1C
negative regulation of cellular biosynthetic process (GO:0031327) 2.492CDKN1C, NSD1
regulation of cellular biosynthetic process (GO:0031326) 1.382CDKN1C, NSD1
positive regulation of cellular metabolic process (GO:0031325) 1.812CDKN1C, NSD1
negative regulation of cellular metabolic process (GO:0031324) 2.012CDKN1C, NSD1
regulation of cellular metabolic process (GO:0031323) 1.072CDKN1C, NSD1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812CDKN1C, NSD1
positive regulation of RNA metabolic process (GO:0051254) 2.512NSD1, CDKN1C
negative regulation of gene expression (GO:0010629) 2.482CDKN1C, NSD1
nitrogen compound metabolic process (GO:0006807) 1.132NSD1, CDKN1C
positive regulation of gene expression (GO:0010628) 2.352NSD1, CDKN1C
regulation of phosphate metabolic process (GO:0019220) 2.352CDKN1C, NSD1
regulation of biological process (GO:0050789) 0.452NSD1, CDKN1C
organic cyclic compound metabolic process (GO:1901360) 1.262CDKN1C, NSD1
positive regulation of metabolic process (GO:0009893) 1.742NSD1, CDKN1C
nucleobase-containing compound metabolic process (GO:0006139) 1.352NSD1, CDKN1C
negative regulation of macromolecule metabolic process (GO:0010605) 2.012CDKN1C, NSD1
negative regulation of biosynthetic process (GO:0009890) 2.472CDKN1C, NSD1
positive regulation of cellular process (GO:0048522) 1.32NSD1, CDKN1C
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122NSD1, CDKN1C
positive regulation of cellular biosynthetic process (GO:0031328) 2.32CDKN1C, NSD1
regulation of protein metabolic process (GO:0051246) 1.932CDKN1C, NSD1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62NSD1, CDKN1C
organic substance metabolic process (GO:0071704) 0.632NSD1, CDKN1C
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242CDKN1C, NSD1
biological regulation (GO:0065007) 0.392CDKN1C, NSD1
regulation of protein modification process (GO:0031399) 2.322CDKN1C, NSD1
positive regulation of biological process (GO:0048518) 1.22CDKN1C, NSD1
negative regulation of biological process (GO:0048519) 1.332NSD1, CDKN1C
regulation of molecular function (GO:0065009) 1.782NSD1, CDKN1C
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462NSD1, CDKN1C
regulation of gene expression (GO:0010468) 1.372NSD1, CDKN1C
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472CDKN1C, NSD1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562NSD1, CDKN1C
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352NSD1, CDKN1C
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552CDKN1C, NSD1
primary metabolic process (GO:0044238) 0.692CDKN1C, NSD1
regulation of macromolecule metabolic process (GO:0060255) 1.082CDKN1C, NSD1
cellular aromatic compound metabolic process (GO:0006725) 1.32CDKN1C, NSD1
cellular process (GO:0009987) 0.262NSD1, CDKN1C
regulation of biosynthetic process (GO:0009889) 1.372CDKN1C, NSD1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552CDKN1C, NSD1
regulation of cellular process (GO:0050794) 0.52CDKN1C, NSD1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72CDKN1C, NSD1
negative regulation of transcription, DNA-templated (GO:0045892) 2.752CDKN1C, NSD1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562NSD1, CDKN1C
metabolic process (GO:0008152) 0.582CDKN1C, NSD1
regulation of RNA biosynthetic process (GO:2001141) 1.552CDKN1C, NSD1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712CDKN1C, NSD1
heterocycle metabolic process (GO:0046483) 1.312NSD1, CDKN1C
regulation of phosphorylation (GO:0042325) 2.52CDKN1C, NSD1
regulation of phosphorus metabolic process (GO:0051174) 2.352CDKN1C, NSD1
regulation of cellular protein metabolic process (GO:0032268) 1.992NSD1, CDKN1C
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432NSD1, CDKN1C
negative regulation of RNA metabolic process (GO:0051253) 2.662NSD1, CDKN1C
regulation of RNA metabolic process (GO:0051252) 1.522NSD1, CDKN1C
cellular nitrogen compound metabolic process (GO:0034641) 1.222CDKN1C, NSD1
cellular metabolic process (GO:0044237) 0.692CDKN1C, NSD1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542NSD1, CDKN1C
regulation of transcription, DNA-templated (GO:0006355) 1.562CDKN1C, NSD1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392CDKN1C, NSD1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432NSD1, CDKN1C
regulation of protein phosphorylation (GO:0001932) 2.572NSD1, CDKN1C
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532CDKN1C, NSD1
negative regulation of cellular process (GO:0048523) 1.412CDKN1C, NSD1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362NSD1, CDKN1C
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62CDKN1C, NSD1
nucleus (GO:0005634) 1.072NSD1, CDKN1C
cell part (GO:0044464) 0.112NSD1, CDKN1C
intracellular organelle (GO:0043229) 0.512NSD1, CDKN1C
intracellular part (GO:0044424) 0.282CDKN1C, NSD1
membrane-bounded organelle (GO:0043227) 0.472NSD1, CDKN1C
organelle (GO:0043226) 0.42NSD1, CDKN1C