Disease table of SOTOS SYNDROME OMIM ID: PS117550

Gene-disease associations table

GeneAssociated with SOTOS SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
NSD1ClinVar, OMIM, HUMSAVARHGNC link5q35.33601626, 130650, PS117550
NFIXClinVar, OMIM, HUMSAVARHGNC link19p13.132PS117550, 602535

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
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
NFIXYES2CDKN1A, CHI3L10
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
nucleic acid binding (GO:0003676) 1.442NFIX, NSD1
organic cyclic compound binding (GO:0097159) 1.052NFIX, NSD1
binding (GO:0005488) 0.182NFIX, NSD1
protein binding (GO:0005515) 0.462NFIX, NSD1
DNA binding (GO:0003677) 1.922NFIX, NSD1
heterocyclic compound binding (GO:1901363) 1.062NFIX, NSD1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692NFIX, NSD1
negative regulation of metabolic process (GO:0009892) 1.932NFIX, NSD1
positive regulation of metabolic process (GO:0009893) 1.742NFIX, NSD1
regulation of metabolic process (GO:0019222) 1.022NFIX, NSD1
positive regulation of biosynthetic process (GO:0009891) 2.292NFIX, NSD1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492NFIX, NSD1
regulation of cellular biosynthetic process (GO:0031326) 1.382NFIX, NSD1
positive regulation of cellular metabolic process (GO:0031325) 1.812NFIX, NSD1
negative regulation of cellular metabolic process (GO:0031324) 2.012NFIX, NSD1
regulation of cellular metabolic process (GO:0031323) 1.072NFIX, NSD1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812NFIX, NSD1
positive regulation of RNA metabolic process (GO:0051254) 2.512NFIX, NSD1
nucleic acid metabolic process (GO:0090304) 1.462NFIX, NSD1
cellular biosynthetic process (GO:0044249) 1.372NFIX, NSD1
negative regulation of gene expression (GO:0010629) 2.482NFIX, NSD1
nitrogen compound metabolic process (GO:0006807) 1.132NFIX, NSD1
positive regulation of gene expression (GO:0010628) 2.352NFIX, NSD1
cellular macromolecule biosynthetic process (GO:0034645) 1.662NFIX, NSD1
organic cyclic compound biosynthetic process (GO:1901362) 1.662NFIX, NSD1
regulation of biological process (GO:0050789) 0.452NFIX, NSD1
nucleic acid-templated transcription (GO:0097659) 1.912NFIX, NSD1
regulation of primary metabolic process (GO:0080090) 1.082NFIX, NSD1
organic substance biosynthetic process (GO:1901576) 1.342NFIX, NSD1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012NFIX, NSD1
negative regulation of biosynthetic process (GO:0009890) 2.472NFIX, NSD1
cellular macromolecule metabolic process (GO:0044260) 0.932NFIX, NSD1
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122NFIX, NSD1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32NFIX, NSD1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462NFIX, NSD1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62NFIX, NSD1
organic substance metabolic process (GO:0071704) 0.632NFIX, NSD1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242NFIX, NSD1
biological regulation (GO:0065007) 0.392NFIX, NSD1
organic cyclic compound metabolic process (GO:1901360) 1.262NFIX, NSD1
positive regulation of biological process (GO:0048518) 1.22NFIX, NSD1
negative regulation of biological process (GO:0048519) 1.332NFIX, NSD1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292NFIX, NSD1
regulation of gene expression (GO:0010468) 1.372NFIX, NSD1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472NFIX, NSD1
heterocycle biosynthetic process (GO:0018130) 1.72NFIX, NSD1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562NFIX, NSD1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352NFIX, NSD1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552NFIX, NSD1
nucleobase-containing compound metabolic process (GO:0006139) 1.352NFIX, NSD1
regulation of macromolecule metabolic process (GO:0060255) 1.082NFIX, NSD1
cellular aromatic compound metabolic process (GO:0006725) 1.32NFIX, NSD1
cellular process (GO:0009987) 0.262NFIX, NSD1
regulation of biosynthetic process (GO:0009889) 1.372NFIX, NSD1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552NFIX, NSD1
regulation of cellular process (GO:0050794) 0.52NFIX, NSD1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72NFIX, NSD1
biosynthetic process (GO:0009058) 1.322NFIX, NSD1
macromolecule biosynthetic process (GO:0009059) 1.612NFIX, NSD1
negative regulation of transcription, DNA-templated (GO:0045892) 2.752NFIX, NSD1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562NFIX, NSD1
metabolic process (GO:0008152) 0.582NFIX, NSD1
regulation of RNA biosynthetic process (GO:2001141) 1.552NFIX, NSD1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722NFIX, NSD1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712NFIX, NSD1
heterocycle metabolic process (GO:0046483) 1.312NFIX, NSD1
RNA metabolic process (GO:0016070) 1.592NFIX, NSD1
RNA biosynthetic process (GO:0032774) 1.842NFIX, NSD1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592NFIX, NSD1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432NFIX, NSD1
negative regulation of RNA metabolic process (GO:0051253) 2.662NFIX, NSD1
regulation of RNA metabolic process (GO:0051252) 1.522NFIX, NSD1
cellular nitrogen compound metabolic process (GO:0034641) 1.222NFIX, NSD1
cellular metabolic process (GO:0044237) 0.692NFIX, NSD1
macromolecule metabolic process (GO:0043170) 0.832NFIX, NSD1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542NFIX, NSD1
regulation of transcription, DNA-templated (GO:0006355) 1.562NFIX, NSD1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392NFIX, NSD1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432NFIX, NSD1
transcription, DNA-templated (GO:0006351) 1.912NFIX, NSD1
aromatic compound biosynthetic process (GO:0019438) 1.72NFIX, NSD1
positive regulation of cellular process (GO:0048522) 1.32NFIX, NSD1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532NFIX, NSD1
negative regulation of cellular process (GO:0048523) 1.412NFIX, NSD1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362NFIX, NSD1
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) 0.62NFIX, NSD1
nucleus (GO:0005634) 1.072NFIX, NSD1
cell part (GO:0044464) 0.112NFIX, NSD1
intracellular organelle (GO:0043229) 0.512NFIX, NSD1
intracellular part (GO:0044424) 0.282NFIX, NSD1
membrane-bounded organelle (GO:0043227) 0.472NFIX, NSD1
organelle (GO:0043226) 0.42NFIX, NSD1