Disease table of HYPERCHOLANEMIA, FAMILIAL OMIM ID: 607748

Gene-disease associations table

Gene	Associated with HYPERCHOLANEMIA, FAMILIAL in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
TJP2	ClinVar, OMIM, HUMSAVAR	HGNC link	9q21.11	2	615878, 607748
EPHX1	ClinVar, OMIM	HGNC link	1q42.12	2	PS189800, 607748
BAAT	ClinVar, OMIM, HUMSAVAR	HGNC link	9q31.1	2	PS235400, 607748

Tandem repeat annotations from DGD

Cytogenetic band analysis

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
9q	2	TJP2, BAAT

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
9	2	TJP2, BAAT

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
TJP2	EPHX1	No	-	1	UBC

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Bile secretion	hsa04976	6.56	2	EPHX1, BAAT

Term	New enriched term	IC	P value	Genes
Bile secretion (hsa04976)	-	6.56	0.008	EPHX1, BAAT

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

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

GO	IC	Number of genes with the same GO	Genes
catalytic activity (GO:0003824)	1.05	3	EPHX1, BAAT, TJP2
hydrolase activity (GO:0016787)	1.9	2	EPHX1, BAAT
transferase activity (GO:0016740)	1.95	2	BAAT, TJP2
binding (GO:0005488)	0.18	2	BAAT, TJP2
protein binding (GO:0005515)	0.46	2	BAAT, TJP2

GO - biological process annotation: shared terms (no NET-GE enrichment)

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	3	EPHX1, BAAT, TJP2
cellular metabolic process (GO:0044237)	0.69	3	EPHX1, BAAT, TJP2
metabolic process (GO:0008152)	0.58	3	EPHX1, BAAT, TJP2
developmental process (GO:0032502)	1.36	2	BAAT, TJP2
primary metabolic process (GO:0044238)	0.69	2	BAAT, TJP2
single-organism metabolic process (GO:0044710)	1.63	2	BAAT, TJP2
organonitrogen compound metabolic process (GO:1901564)	2.32	2	BAAT, TJP2
single-organism process (GO:0044699)	0.48	2	BAAT, TJP2
response to stimulus (GO:0050896)	1.22	2	EPHX1, TJP2
anatomical structure development (GO:0048856)	1.58	2	BAAT, TJP2
cellular aromatic compound metabolic process (GO:0006725)	1.3	2	EPHX1, TJP2
single-organism developmental process (GO:0044767)	1.49	2	BAAT, TJP2
organic substance metabolic process (GO:0071704)	0.63	2	BAAT, TJP2
nitrogen compound metabolic process (GO:0006807)	1.13	2	BAAT, TJP2
single-organism cellular process (GO:0044763)	0.65	2	BAAT, TJP2
small molecule metabolic process (GO:0044281)	2.38	2	BAAT, TJP2
response to chemical (GO:0042221)	1.98	2	EPHX1, TJP2
response to organic substance (GO:0010033)	2.2	2	EPHX1, TJP2
organic cyclic compound metabolic process (GO:1901360)	1.26	2	BAAT, TJP2

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

GO	IC	Number of genes with the same GO	Genes
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	EPHX1, BAAT, TJP2
cell part (GO:0044464)	0.11	3	EPHX1, BAAT, TJP2
cytoplasmic part (GO:0044444)	0.82	3	EPHX1, BAAT, TJP2
intracellular organelle part (GO:0044446)	0.81	3	EPHX1, BAAT, TJP2
intracellular organelle (GO:0043229)	0.51	3	EPHX1, BAAT, TJP2
intracellular part (GO:0044424)	0.28	3	EPHX1, BAAT, TJP2
membrane-bounded organelle (GO:0043227)	0.47	3	EPHX1, BAAT, TJP2
organelle (GO:0043226)	0.4	3	EPHX1, BAAT, TJP2
organelle part (GO:0044422)	0.79	3	EPHX1, BAAT, TJP2
cytoplasm (GO:0005737)	1.01	2	BAAT, TJP2
cytosol (GO:0005829)	1.68	2	BAAT, TJP2
membrane (GO:0016020)	0.68	2	EPHX1, TJP2