Disease table of ACHONDROGENESIS OMIM ID: PS200600

Gene-disease associations table

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Gene	Associated with ACHONDROGENESIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
COL2A1	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.11	14	616583, 150600, PS108300, 132450, 271700, 609162, 184250, 604864, 215150, 608805, 183900, PS200600, 151210, 156550
SLC26A2	ClinVar, OMIM, HUMSAVAR	HGNC link	5q32	4	PS132400, 222600, PS200600, PS108720
TRIP11	ClinVar, OMIM	HGNC link	14q32.12	1	PS200600

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
COL2A1	YES	6	SP1, SOX9, SPEN, RELA, SP3, NFKB1	0

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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 term	IC	P value	Genes
Glycosaminoglycan metabolism (R-HSA-1630316)	NEW	6.04	0.046	COL2A1, SLC26A2

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
protein binding (GO:0005515)	0.46	2	COL2A1, TRIP11
binding (GO:0005488)	0.18	2	COL2A1, TRIP11

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
ossification (GO:0001503)	4.86	2	COL2A1, SLC26A2
carbohydrate derivative metabolic process (GO:1901135)	3.07	2	COL2A1, SLC26A2
homeostatic process (GO:0042592)	2.61	2	COL2A1, SLC26A2
organic substance transport (GO:0071702)	2.15	2	SLC26A2, TRIP11
single-multicellular organism process (GO:0044707)	1.78	2	COL2A1, SLC26A2
nucleobase-containing compound biosynthetic process (GO:0034654)	1.72	2	SLC26A2, TRIP11
heterocycle biosynthetic process (GO:0018130)	1.7	2	SLC26A2, TRIP11
aromatic compound biosynthetic process (GO:0019438)	1.7	2	SLC26A2, TRIP11
regulation of biological quality (GO:0065008)	1.68	2	COL2A1, SLC26A2
organic cyclic compound biosynthetic process (GO:1901362)	1.66	2	SLC26A2, TRIP11

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
ossification (GO:0001503)	-	4.86	0.029	COL2A1, SLC26A2

GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
membrane-bounded vesicle (GO:0031988)	1.71	2	SLC26A2, TRIP11
vesicle (GO:0031982)	1.64	2	SLC26A2, TRIP11
extracellular region part (GO:0044421)	1.57	2	COL2A1, SLC26A2
cytoplasm (GO:0005737)	1.01	2	COL2A1, TRIP11
membrane part (GO:0044425)	0.95	2	SLC26A2, TRIP11
cytoplasmic part (GO:0044444)	0.82	2	COL2A1, TRIP11
intracellular organelle part (GO:0044446)	0.81	2	COL2A1, TRIP11
organelle part (GO:0044422)	0.79	2	COL2A1, TRIP11
membrane (GO:0016020)	0.68	2	SLC26A2, TRIP11
membrane-bounded organelle (GO:0043227)	0.47	2	SLC26A2, TRIP11

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