Disease table of SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES OMIM ID: PS616866

Gene-disease associations table

GeneAssociated with SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ASCC1ClinVar, OMIMHGNC link10q22.12PS616866, 614266
TRIP4ClinVar, OMIMHGNC link15q22.311PS616866

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ASCC1TRIP4Yes6ASCC2, XPO1, NCOA1, ESR1, ALKBH3, EP300

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
ASCC1TRIP4No-1UBC

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
ASCC1TRIP4YeshASC-1 complex2ASCC3, ASCC2

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

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
binding (GO:0005488) 0.182TRIP4, ASCC1
protein binding (GO:0005515) 0.462TRIP4, ASCC1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of primary metabolic process (GO:0080090) 1.082TRIP4, ASCC1
regulation of metabolic process (GO:0019222) 1.022TRIP4, ASCC1
regulation of cellular biosynthetic process (GO:0031326) 1.382TRIP4, ASCC1
regulation of cellular metabolic process (GO:0031323) 1.072TRIP4, ASCC1
nucleic acid metabolic process (GO:0090304) 1.462TRIP4, ASCC1
cellular biosynthetic process (GO:0044249) 1.372TRIP4, ASCC1
cellular nitrogen compound metabolic process (GO:0034641) 1.222TRIP4, ASCC1
nitrogen compound metabolic process (GO:0006807) 1.132TRIP4, ASCC1
cellular macromolecule biosynthetic process (GO:0034645) 1.662TRIP4, ASCC1
organic cyclic compound biosynthetic process (GO:1901362) 1.662TRIP4, ASCC1
regulation of biological process (GO:0050789) 0.452TRIP4, ASCC1
organic cyclic compound metabolic process (GO:1901360) 1.262TRIP4, ASCC1
RNA biosynthetic process (GO:0032774) 1.842TRIP4, ASCC1
nucleobase-containing compound metabolic process (GO:0006139) 1.352TRIP4, ASCC1
cellular macromolecule metabolic process (GO:0044260) 0.932TRIP4, ASCC1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462TRIP4, ASCC1
organic substance metabolic process (GO:0071704) 0.632TRIP4, ASCC1
biological regulation (GO:0065007) 0.392TRIP4, ASCC1
nucleic acid-templated transcription (GO:0097659) 1.912TRIP4, ASCC1
regulation of gene expression (GO:0010468) 1.372TRIP4, ASCC1
heterocycle biosynthetic process (GO:0018130) 1.72TRIP4, ASCC1
organic substance biosynthetic process (GO:1901576) 1.342TRIP4, ASCC1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432TRIP4, ASCC1
cellular aromatic compound metabolic process (GO:0006725) 1.32TRIP4, ASCC1
cellular process (GO:0009987) 0.262TRIP4, ASCC1
regulation of biosynthetic process (GO:0009889) 1.372TRIP4, ASCC1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552TRIP4, ASCC1
regulation of cellular process (GO:0050794) 0.52TRIP4, ASCC1
biosynthetic process (GO:0009058) 1.322TRIP4, ASCC1
macromolecule biosynthetic process (GO:0009059) 1.612TRIP4, ASCC1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362TRIP4, ASCC1
metabolic process (GO:0008152) 0.582TRIP4, ASCC1
regulation of RNA biosynthetic process (GO:2001141) 1.552TRIP4, ASCC1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722TRIP4, ASCC1
heterocycle metabolic process (GO:0046483) 1.312TRIP4, ASCC1
RNA metabolic process (GO:0016070) 1.592TRIP4, ASCC1
primary metabolic process (GO:0044238) 0.692TRIP4, ASCC1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592TRIP4, ASCC1
regulation of macromolecule metabolic process (GO:0060255) 1.082TRIP4, ASCC1
regulation of RNA metabolic process (GO:0051252) 1.522TRIP4, ASCC1
cellular metabolic process (GO:0044237) 0.692TRIP4, ASCC1
macromolecule metabolic process (GO:0043170) 0.832TRIP4, ASCC1
regulation of transcription, DNA-templated (GO:0006355) 1.562TRIP4, ASCC1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432TRIP4, ASCC1
transcription, DNA-templated (GO:0006351) 1.912TRIP4, ASCC1
aromatic compound biosynthetic process (GO:0019438) 1.72TRIP4, ASCC1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012TRIP4, ASCC1
intracellular organelle part (GO:0044446) 0.812TRIP4, ASCC1
cell part (GO:0044464) 0.112TRIP4, ASCC1
nucleoplasm (GO:0005654) 1.892TRIP4, ASCC1
nuclear part (GO:0044428) 1.552TRIP4, ASCC1
intracellular part (GO:0044424) 0.282TRIP4, ASCC1
organelle part (GO:0044422) 0.792TRIP4, ASCC1