Disease table of DIARRHEA, CONGENITAL OMIM ID: PS214700

Gene-disease associations table

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Gene	Associated with DIARRHEA, CONGENITAL in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
DGAT1	ClinVar, OMIM	HGNC link	8q24.3	1	PS214700
EPCAM	ClinVar, OMIM, HUMSAVAR	HGNC link	2p21	2	PS120435, PS214700
GUCY2C	ClinVar, OMIM, HUMSAVAR	HGNC link	12p12.3	2	PS214700, 614665
MYO5B	ClinVar, OMIM, HUMSAVAR	HGNC link	18q21.1	1	PS214700
NEUROG3	ClinVar, OMIM, HUMSAVAR	HGNC link	10q22.1	1	PS214700
SLC26A3	ClinVar, OMIM, HUMSAVAR	HGNC link	7q31.1	1	PS214700
SLC9A3	ClinVar, OMIM	HGNC link	5p15.33	1	PS214700
SPINT2	OMIM, HUMSAVAR	HGNC link	19q13.2	1	PS214700

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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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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
NEUROG3	YES	7	NEUROD1, NHLH1, VSX2, NEUROG2, NEUROD4, ASH1L, NEUROG1	0

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regulated gene	associated to this disease	# TFs	TFs
GUCY2C	YES	1	CDX2
SLC9A3	YES	4	SP1, SP3, STAT3, EGR1
SLC26A3	YES	4	CIITA, YY1, HNF4A, ETS1
NEUROG3	YES	1	FOXO1
EPCAM	YES	5	DNMT1, HDAC1, NFKB1, ZEB1, RELA

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Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SLC9A3	SLC26A3	No	1	SLC9A3R2

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
GUCY2C	SLC9A3	No	-	1	PDZD3
SLC9A3	SLC26A3	No	-	1	SLC9A3R2
SLC9A3	MYO5B	No	-	2	CFTR, ACTN4
SLC9A3	NEUROG3	No	-	1	STAT3

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Mineral absorption	hsa04978	7.09	2	SLC9A3, SLC26A3

NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Mineral absorption (hsa04978)	-	7.09	0.011	SLC9A3, SLC26A3
Digestive system	NEW	4.12	0.038	DGAT1, SLC26A3, SLC9A3

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REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Transport of inorganic cations/anions and amino acids/oligopeptides	R-HSA-425393	6.41	2	SLC9A3, SLC26A3
SLC-mediated transmembrane transport	R-HSA-425407	4.95	2	SLC9A3, SLC26A3
Transmembrane transport of small molecules	R-HSA-382551	3.79	3	SLC26A3, SLC9A3, MYO5B

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Transport of inorganic cations/anions and amino acids/oligopeptides (R-HSA-425393)	-	6.41	0.025	SLC9A3, SLC26A3

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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
ion antiporter activity (GO:0099516)	5.75	2	SLC9A3, SLC26A3
antiporter activity (GO:0015297)	5.33	2	SLC9A3, SLC26A3
secondary active transmembrane transporter activity (GO:0015291)	4.29	2	SLC9A3, SLC26A3
active transmembrane transporter activity (GO:0022804)	3.85	2	SLC9A3, SLC26A3
transcription cofactor activity (GO:0003712)	3.44	2	NEUROG3, SLC26A3
transcription factor activity, transcription factor binding (GO:0000989)	3.36	2	NEUROG3, SLC26A3
transcription factor activity, protein binding (GO:0000988)	3.35	2	NEUROG3, SLC26A3
ion transmembrane transporter activity (GO:0015075)	3.04	2	SLC9A3, SLC26A3
substrate-specific transmembrane transporter activity (GO:0022891)	2.9	2	SLC9A3, SLC26A3
transmembrane transporter activity (GO:0022857)	2.82	2	SLC9A3, SLC26A3

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
regulation of pH (GO:0006885)	5.24	2	SLC9A3, SLC26A3
monovalent inorganic cation homeostasis (GO:0055067)	4.93	2	SLC9A3, SLC26A3
negative regulation of cell-cell adhesion (GO:0022408)	4.84	2	EPCAM, SPINT2
negative regulation of cell adhesion (GO:0007162)	4.33	2	EPCAM, SPINT2
regulation of cell-cell adhesion (GO:0022407)	3.79	2	EPCAM, SPINT2
cation homeostasis (GO:0055080)	3.46	2	SLC9A3, SLC26A3
inorganic ion homeostasis (GO:0098771)	3.43	2	SLC9A3, SLC26A3
ion homeostasis (GO:0050801)	3.42	2	SLC9A3, SLC26A3
inorganic ion transmembrane transport (GO:0098660)	3.38	2	SLC9A3, SLC26A3
regulation of cell adhesion (GO:0030155)	3.27	2	EPCAM, SPINT2

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
brush border membrane (GO:0031526)	5.78	2	SLC9A3, SLC26A3
apical plasma membrane (GO:0016324)	4.13	3	EPCAM, SLC9A3, SLC26A3
cell projection membrane (GO:0031253)	4.11	2	SLC9A3, SLC26A3
cell surface (GO:0009986)	3.44	2	EPCAM, SLC9A3
plasma membrane region (GO:0098590)	2.97	3	EPCAM, SLC9A3, SLC26A3
cell projection part (GO:0044463)	2.97	2	SLC9A3, SLC26A3
endoplasmic reticulum membrane (GO:0005789)	2.95	2	DGAT1, GUCY2C
endoplasmic reticulum part (GO:0044432)	2.73	2	DGAT1, GUCY2C
integral component of plasma membrane (GO:0005887)	2.57	2	EPCAM, SLC26A3
endoplasmic reticulum (GO:0005783)	2.56	2	DGAT1, GUCY2C

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
brush border membrane (GO:0031526)	-	5.78	0.008	SLC9A3, SLC26A3
brush border (GO:0005903)	NEW	5.68	0.02	GUCY2C, SLC9A3
apical plasma membrane (GO:0016324)	-	4.13	0.006	EPCAM, MYO5B, SLC9A3, SLC26A3
membrane region (GO:0098589)	NEW	3.95	0.004	EPCAM, DGAT1, SLC9A3, SLC26A3, GUCY2C
plasma membrane region (GO:0098590)	-	2.97	0.029	EPCAM, SLC9A3, SLC26A3

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