Disease table of RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA OMIM ID: PS605432

Gene-disease associations table

GeneAssociated with RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MECOMClinVar, OMIMHGNC link3q26.21PS605432
HOXA11OMIMHGNC link7p15.21PS605432

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
HOXA11YES1HOXA100
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
MECOMYES3RUNX1, SMARCA4, ELK10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MECOMHOXA11No1HDAC1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

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
organic cyclic compound binding (GO:0097159) 1.052HOXA11, MECOM
heterocyclic compound binding (GO:1901363) 1.062HOXA11, MECOM
binding (GO:0005488) 0.182HOXA11, MECOM
nucleic acid binding (GO:0003676) 1.442HOXA11, MECOM
DNA binding (GO:0003677) 1.922HOXA11, MECOM
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562HOXA11, MECOM
anatomical structure development (GO:0048856) 1.582HOXA11, MECOM
RNA biosynthetic process (GO:0032774) 1.842HOXA11, MECOM
positive regulation of metabolic process (GO:0009893) 1.742HOXA11, MECOM
regulation of metabolic process (GO:0019222) 1.022HOXA11, MECOM
positive regulation of biosynthetic process (GO:0009891) 2.292HOXA11, MECOM
regulation of cellular biosynthetic process (GO:0031326) 1.382HOXA11, MECOM
positive regulation of cellular metabolic process (GO:0031325) 1.812HOXA11, MECOM
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292HOXA11, MECOM
regulation of cellular metabolic process (GO:0031323) 1.072HOXA11, MECOM
nucleic acid metabolic process (GO:0090304) 1.462HOXA11, MECOM
cellular biosynthetic process (GO:0044249) 1.372HOXA11, MECOM
cellular nitrogen compound metabolic process (GO:0034641) 1.222HOXA11, MECOM
nitrogen compound metabolic process (GO:0006807) 1.132HOXA11, MECOM
positive regulation of gene expression (GO:0010628) 2.352HOXA11, MECOM
cellular macromolecule biosynthetic process (GO:0034645) 1.662HOXA11, MECOM
organic cyclic compound biosynthetic process (GO:1901362) 1.662HOXA11, MECOM
regulation of biological process (GO:0050789) 0.452HOXA11, MECOM
nucleic acid-templated transcription (GO:0097659) 1.912HOXA11, MECOM
regulation of primary metabolic process (GO:0080090) 1.082HOXA11, MECOM
organic substance biosynthetic process (GO:1901576) 1.342HOXA11, MECOM
positive regulation of macromolecule metabolic process (GO:0010604) 1.812HOXA11, MECOM
cellular macromolecule metabolic process (GO:0044260) 0.932HOXA11, MECOM
cellular developmental process (GO:0048869) 1.822HOXA11, MECOM
positive regulation of cellular biosynthetic process (GO:0031328) 2.32HOXA11, MECOM
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462HOXA11, MECOM
multicellular organism development (GO:0007275) 2.542HOXA11, MECOM
organic substance metabolic process (GO:0071704) 0.632HOXA11, MECOM
biological regulation (GO:0065007) 0.392HOXA11, MECOM
organic cyclic compound metabolic process (GO:1901360) 1.262HOXA11, MECOM
positive regulation of biological process (GO:0048518) 1.22HOXA11, MECOM
regulation of gene expression (GO:0010468) 1.372HOXA11, MECOM
heterocycle biosynthetic process (GO:0018130) 1.72HOXA11, MECOM
developmental process (GO:0032502) 1.362HOXA11, MECOM
multicellular organismal process (GO:0032501) 1.452HOXA11, MECOM
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352HOXA11, MECOM
nucleobase-containing compound metabolic process (GO:0006139) 1.352HOXA11, MECOM
regulation of macromolecule metabolic process (GO:0060255) 1.082HOXA11, MECOM
cellular aromatic compound metabolic process (GO:0006725) 1.32HOXA11, MECOM
cellular process (GO:0009987) 0.262HOXA11, MECOM
regulation of biosynthetic process (GO:0009889) 1.372HOXA11, MECOM
regulation of nucleic acid-templated transcription (GO:1903506) 1.552HOXA11, MECOM
regulation of cellular process (GO:0050794) 0.52HOXA11, MECOM
single-organism developmental process (GO:0044767) 1.492HOXA11, MECOM
biosynthetic process (GO:0009058) 1.322HOXA11, MECOM
macromolecule biosynthetic process (GO:0009059) 1.612HOXA11, MECOM
single-organism cellular process (GO:0044763) 0.652HOXA11, MECOM
positive regulation of transcription, DNA-templated (GO:0045893) 2.562HOXA11, MECOM
metabolic process (GO:0008152) 0.582HOXA11, MECOM
regulation of RNA biosynthetic process (GO:2001141) 1.552HOXA11, MECOM
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722HOXA11, MECOM
heterocycle metabolic process (GO:0046483) 1.312HOXA11, MECOM
RNA metabolic process (GO:0016070) 1.592HOXA11, MECOM
primary metabolic process (GO:0044238) 0.692HOXA11, MECOM
single-organism process (GO:0044699) 0.482HOXA11, MECOM
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592HOXA11, MECOM
single-multicellular organism process (GO:0044707) 1.782HOXA11, MECOM
regulation of RNA metabolic process (GO:0051252) 1.522HOXA11, MECOM
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432HOXA11, MECOM
positive regulation of RNA metabolic process (GO:0051254) 2.512HOXA11, MECOM
cellular metabolic process (GO:0044237) 0.692HOXA11, MECOM
macromolecule metabolic process (GO:0043170) 0.832HOXA11, MECOM
positive regulation of RNA biosynthetic process (GO:1902680) 2.542HOXA11, MECOM
regulation of transcription, DNA-templated (GO:0006355) 1.562HOXA11, MECOM
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392HOXA11, MECOM
regulation of macromolecule biosynthetic process (GO:0010556) 1.432HOXA11, MECOM
transcription, DNA-templated (GO:0006351) 1.912HOXA11, MECOM
aromatic compound biosynthetic process (GO:0019438) 1.72HOXA11, MECOM
positive regulation of cellular process (GO:0048522) 1.32HOXA11, MECOM
regulation of nitrogen compound metabolic process (GO:0051171) 1.362HOXA11, MECOM
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512HOXA11, MECOM
macromolecular complex (GO:0032991) 1.352HOXA11, MECOM
intracellular membrane-bounded organelle (GO:0043231) 0.62HOXA11, MECOM
nucleus (GO:0005634) 1.072HOXA11, MECOM
cell part (GO:0044464) 0.112HOXA11, MECOM
intracellular organelle (GO:0043229) 0.512HOXA11, MECOM
intracellular part (GO:0044424) 0.282HOXA11, MECOM
membrane-bounded organelle (GO:0043227) 0.472HOXA11, MECOM
organelle (GO:0043226) 0.42HOXA11, MECOM