Disease table of ACHONDROGENESIS OMIM ID: PS200600

Gene-disease associations table

GeneAssociated with ACHONDROGENESIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TRIP11ClinVar, OMIMHGNC link14q32.121PS200600
SLC26A2ClinVar, OMIM, HUMSAVARHGNC link5q324PS132400, 222600, PS200600, PS108720
COL2A1ClinVar, OMIM, HUMSAVARHGNC link12q13.1114616583, 150600, PS108300, 132450, 271700, 609162, 184250, 604864, 215150, 608805, 183900, PS200600, 151210, 156550

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
COL2A1YES6SP1, SOX9, SPEN, RELA, SP3, NFKB10
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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Glycosaminoglycan metabolism (R-HSA-1630316) NEW6.040.046COL2A1, SLC26A2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182COL2A1, TRIP11
protein binding (GO:0005515) 0.462COL2A1, TRIP11
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.263COL2A1, SLC26A2, TRIP11
cellular metabolic process (GO:0044237) 0.693COL2A1, SLC26A2, TRIP11
organic substance metabolic process (GO:0071704) 0.633COL2A1, SLC26A2, TRIP11
biological regulation (GO:0065007) 0.393COL2A1, SLC26A2, TRIP11
metabolic process (GO:0008152) 0.583COL2A1, SLC26A2, TRIP11
single-organism process (GO:0044699) 0.483COL2A1, SLC26A2, TRIP11
regulation of metabolic process (GO:0019222) 1.022COL2A1, TRIP11
homeostatic process (GO:0042592) 2.612COL2A1, SLC26A2
cellular biosynthetic process (GO:0044249) 1.372SLC26A2, TRIP11
cellular nitrogen compound metabolic process (GO:0034641) 1.222SLC26A2, TRIP11
ossification (GO:0001503) 4.862COL2A1, SLC26A2
organic cyclic compound biosynthetic process (GO:1901362) 1.662SLC26A2, TRIP11
regulation of biological process (GO:0050789) 0.452COL2A1, TRIP11
organic cyclic compound metabolic process (GO:1901360) 1.262SLC26A2, TRIP11
organic substance biosynthetic process (GO:1901576) 1.342SLC26A2, TRIP11
single-organism metabolic process (GO:0044710) 1.632COL2A1, SLC26A2
cellular macromolecule metabolic process (GO:0044260) 0.932COL2A1, TRIP11
organic substance transport (GO:0071702) 2.152SLC26A2, TRIP11
regulation of biological quality (GO:0065008) 1.682COL2A1, SLC26A2
heterocycle biosynthetic process (GO:0018130) 1.72SLC26A2, TRIP11
developmental process (GO:0032502) 1.362COL2A1, TRIP11
multicellular organismal process (GO:0032501) 1.452COL2A1, SLC26A2
nucleobase-containing compound metabolic process (GO:0006139) 1.352SLC26A2, TRIP11
regulation of macromolecule metabolic process (GO:0060255) 1.082COL2A1, TRIP11
transport (GO:0006810) 1.512SLC26A2, TRIP11
cellular aromatic compound metabolic process (GO:0006725) 1.32SLC26A2, TRIP11
regulation of cellular process (GO:0050794) 0.52COL2A1, TRIP11
single-organism developmental process (GO:0044767) 1.492COL2A1, TRIP11
biosynthetic process (GO:0009058) 1.322SLC26A2, TRIP11
single-organism cellular process (GO:0044763) 0.652COL2A1, SLC26A2
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722SLC26A2, TRIP11
establishment of localization (GO:0051234) 1.482SLC26A2, TRIP11
localization (GO:0051179) 1.42SLC26A2, TRIP11
heterocycle metabolic process (GO:0046483) 1.312SLC26A2, TRIP11
primary metabolic process (GO:0044238) 0.692SLC26A2, TRIP11
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592SLC26A2, TRIP11
single-multicellular organism process (GO:0044707) 1.782COL2A1, SLC26A2
carbohydrate derivative metabolic process (GO:1901135) 3.072COL2A1, SLC26A2
anatomical structure development (GO:0048856) 1.582COL2A1, TRIP11
macromolecule metabolic process (GO:0043170) 0.832COL2A1, TRIP11
nitrogen compound metabolic process (GO:0006807) 1.132SLC26A2, TRIP11
aromatic compound biosynthetic process (GO:0019438) 1.72SLC26A2, TRIP11

NET-GE enrichment

Term New enriched termICP valueGenes
ossification (GO:0001503) -4.860.029COL2A1, SLC26A2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113COL2A1, SLC26A2, TRIP11
cytoplasm (GO:0005737) 1.012COL2A1, TRIP11
vesicle (GO:0031982) 1.642SLC26A2, TRIP11
extracellular region part (GO:0044421) 1.572COL2A1, SLC26A2
membrane (GO:0016020) 0.682SLC26A2, TRIP11
membrane-bounded vesicle (GO:0031988) 1.712SLC26A2, TRIP11
intracellular organelle part (GO:0044446) 0.812COL2A1, TRIP11
cytoplasmic part (GO:0044444) 0.822COL2A1, TRIP11
intracellular part (GO:0044424) 0.282COL2A1, TRIP11
membrane part (GO:0044425) 0.952SLC26A2, TRIP11
membrane-bounded organelle (GO:0043227) 0.472SLC26A2, TRIP11
organelle (GO:0043226) 0.42SLC26A2, TRIP11
organelle part (GO:0044422) 0.792COL2A1, TRIP11