Disease table of DIARRHEA, CONGENITAL OMIM ID: PS214700

Gene-disease associations table

GeneAssociated with DIARRHEA, CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SPINT2OMIM, HUMSAVARHGNC link19q13.21PS214700
GUCY2CClinVar, OMIM, HUMSAVARHGNC link12p12.32PS214700, 614665
SLC9A3ClinVar, OMIMHGNC link5p15.331PS214700
DGAT1ClinVar, OMIMHGNC link8q24.31PS214700
SLC26A3ClinVar, OMIM, HUMSAVARHGNC link7q31.11PS214700
MYO5BClinVar, OMIM, HUMSAVARHGNC link18q21.11PS214700
NEUROG3ClinVar, OMIM, HUMSAVARHGNC link10q22.11PS214700
EPCAMClinVar, OMIM, HUMSAVARHGNC link2p212PS120435, PS214700

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
NEUROG3YES7NEUROD1, NHLH1, VSX2, NEUROG2, NEUROD4, ASH1L, NEUROG10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
GUCY2CYES1CDX20
SLC9A3YES4SP1, SP3, STAT3, EGR10
SLC26A3YES4CIITA, YY1, HNF4A, ETS10
NEUROG3YES1FOXO10
EPCAMYES5DNMT1, HDAC1, NFKB1, ZEB1, RELA0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SLC9A3SLC26A3No1SLC9A3R2

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
GUCY2CSLC9A3No-1PDZD3
SLC9A3SLC26A3No-1SLC9A3R2
SLC9A3MYO5BNo-2CFTR, ACTN4
SLC9A3NEUROG3No-1STAT3

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 termKEGG term IDICNumber of genes with the same termGenes
Mineral absorptionhsa049787.092SLC9A3, SLC26A3

NET-GE enrichment

Term New enriched termICP valueGenes
Mineral absorption (hsa04978) -7.090.011SLC9A3, SLC26A3
Digestive systemNEW4.120.038DGAT1, SLC26A3, SLC9A3
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Transmembrane transport of small moleculesR-HSA-3825513.793SLC26A3, SLC9A3, MYO5B
SLC-mediated transmembrane transportR-HSA-4254074.952SLC9A3, SLC26A3
Transport of inorganic cations/anions and amino acids/oligopeptidesR-HSA-4253936.412SLC9A3, SLC26A3

NET-GE enrichment

Term New enriched termICP valueGenes
Transport of inorganic cations/anions and amino acids/oligopeptides (R-HSA-425393) -6.410.025SLC9A3, SLC26A3
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.187EPCAM, GUCY2C, MYO5B, SLC26A3, NEUROG3, DGAT1, SLC9A3
protein binding (GO:0005515) 0.467EPCAM, GUCY2C, MYO5B, SLC26A3, NEUROG3, DGAT1, SLC9A3
catalytic activity (GO:0003824) 1.053DGAT1, MYO5B, GUCY2C
heterocyclic compound binding (GO:1901363) 1.063NEUROG3, MYO5B, GUCY2C
organic cyclic compound binding (GO:0097159) 1.053NEUROG3, MYO5B, GUCY2C
ion antiporter activity (GO:0099516) 5.752SLC9A3, SLC26A3
purine ribonucleoside triphosphate binding (GO:0035639) 2.222GUCY2C, MYO5B
macromolecular complex binding (GO:0044877) 2.612EPCAM, NEUROG3
nucleic acid binding transcription factor activity (GO:0001071) 2.652NEUROG3, SLC26A3
nucleoside phosphate binding (GO:1901265) 1.962GUCY2C, MYO5B
nucleoside binding (GO:0001882) 2.212GUCY2C, MYO5B
transcription cofactor activity (GO:0003712) 3.442NEUROG3, SLC26A3
nucleotide binding (GO:0000166) 1.962GUCY2C, MYO5B
transferase activity (GO:0016740) 1.952DGAT1, GUCY2C
purine nucleoside binding (GO:0001883) 2.222GUCY2C, MYO5B
transcription factor activity, transcription factor binding (GO:0000989) 3.362NEUROG3, SLC26A3
transcription factor activity, protein binding (GO:0000988) 3.352NEUROG3, SLC26A3
purine nucleotide binding (GO:0017076) 2.192GUCY2C, MYO5B
ATP binding (GO:0005524) 2.432GUCY2C, MYO5B
antiporter activity (GO:0015297) 5.332SLC9A3, SLC26A3
secondary active transmembrane transporter activity (GO:0015291) 4.292SLC9A3, SLC26A3
transporter activity (GO:0005215) 2.572SLC9A3, SLC26A3
ribonucleoside binding (GO:0032549) 2.222GUCY2C, MYO5B
small molecule binding (GO:0036094) 1.892GUCY2C, MYO5B
substrate-specific transmembrane transporter activity (GO:0022891) 2.92SLC9A3, SLC26A3
substrate-specific transporter activity (GO:0022892) 2.722SLC9A3, SLC26A3
adenyl nucleotide binding (GO:0030554) 2.42GUCY2C, MYO5B
carbohydrate derivative binding (GO:0097367) 2.032GUCY2C, MYO5B
ion transmembrane transporter activity (GO:0015075) 3.042SLC9A3, SLC26A3
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.652NEUROG3, SLC26A3
transmembrane transporter activity (GO:0022857) 2.822SLC9A3, SLC26A3
adenyl ribonucleotide binding (GO:0032559) 2.412GUCY2C, MYO5B
active transmembrane transporter activity (GO:0022804) 3.852SLC9A3, SLC26A3
purine ribonucleotide binding (GO:0032555) 2.22GUCY2C, MYO5B
purine ribonucleoside binding (GO:0032550) 2.222GUCY2C, MYO5B
ribonucleotide binding (GO:0032553) 2.192GUCY2C, MYO5B
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
biological regulation (GO:0065007) 0.398EPCAM, SPINT2, MYO5B, NEUROG3, SLC26A3, GUCY2C, DGAT1, SLC9A3
single-organism process (GO:0044699) 0.488EPCAM, SPINT2, MYO5B, NEUROG3, SLC26A3, GUCY2C, DGAT1, SLC9A3
cellular process (GO:0009987) 0.266EPCAM, SPINT2, NEUROG3, SLC26A3, GUCY2C, DGAT1
single-organism cellular process (GO:0044763) 0.656EPCAM, SPINT2, NEUROG3, SLC26A3, GUCY2C, DGAT1
regulation of biological process (GO:0050789) 0.456EPCAM, SPINT2, SLC26A3, GUCY2C, NEUROG3, SLC9A3
regulation of cellular process (GO:0050794) 0.55EPCAM, SPINT2, SLC26A3, NEUROG3, GUCY2C
multicellular organismal process (GO:0032501) 1.454SLC26A3, NEUROG3, MYO5B, DGAT1
regulation of primary metabolic process (GO:0080090) 1.084EPCAM, NEUROG3, SLC26A3, SPINT2
regulation of metabolic process (GO:0019222) 1.024EPCAM, NEUROG3, SLC26A3, SPINT2
regulation of macromolecule metabolic process (GO:0060255) 1.084EPCAM, NEUROG3, SLC26A3, SPINT2
regulation of cellular metabolic process (GO:0031323) 1.074EPCAM, SPINT2, SLC26A3, NEUROG3
chemical homeostasis (GO:0048878) 2.974SLC26A3, DGAT1, MYO5B, SLC9A3
homeostatic process (GO:0042592) 2.614SLC26A3, DGAT1, MYO5B, SLC9A3
regulation of biological quality (GO:0065008) 1.684SLC26A3, DGAT1, MYO5B, SLC9A3
localization (GO:0051179) 1.44SLC26A3, DGAT1, MYO5B, SLC9A3
regulation of cellular biosynthetic process (GO:0031326) 1.383EPCAM, NEUROG3, SLC26A3
cellular biosynthetic process (GO:0044249) 1.373NEUROG3, DGAT1, GUCY2C
organic substance biosynthetic process (GO:1901576) 1.343DGAT1, NEUROG3, GUCY2C
establishment of localization (GO:0051234) 1.483SLC26A3, SLC9A3, MYO5B
cellular developmental process (GO:0048869) 1.823EPCAM, NEUROG3, SLC26A3
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463EPCAM, NEUROG3, SLC26A3
organic substance metabolic process (GO:0071704) 0.633DGAT1, NEUROG3, GUCY2C
negative regulation of biological process (GO:0048519) 1.333EPCAM, NEUROG3, SPINT2
regulation of gene expression (GO:0010468) 1.373EPCAM, NEUROG3, SLC26A3
developmental process (GO:0032502) 1.363EPCAM, NEUROG3, SLC26A3
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433EPCAM, NEUROG3, SLC26A3
transport (GO:0006810) 1.513SLC26A3, SLC9A3, MYO5B
regulation of biosynthetic process (GO:0009889) 1.373EPCAM, NEUROG3, SLC26A3
regulation of nucleic acid-templated transcription (GO:1903506) 1.553EPCAM, NEUROG3, SLC26A3
biosynthetic process (GO:0009058) 1.323DGAT1, NEUROG3, GUCY2C
regulation of nitrogen compound metabolic process (GO:0051171) 1.363EPCAM, NEUROG3, SLC26A3
metabolic process (GO:0008152) 0.583NEUROG3, DGAT1, GUCY2C
regulation of RNA biosynthetic process (GO:2001141) 1.553EPCAM, NEUROG3, SLC26A3
response to chemical (GO:0042221) 1.983GUCY2C, SLC26A3, SLC9A3
regulation of localization (GO:0032879) 1.943EPCAM, SPINT2, SLC9A3
primary metabolic process (GO:0044238) 0.693NEUROG3, DGAT1, GUCY2C
single-multicellular organism process (GO:0044707) 1.783DGAT1, MYO5B, NEUROG3
response to stimulus (GO:0050896) 1.223GUCY2C, SLC26A3, SLC9A3
regulation of RNA metabolic process (GO:0051252) 1.523EPCAM, NEUROG3, SLC26A3
cellular metabolic process (GO:0044237) 0.693DGAT1, NEUROG3, GUCY2C
regulation of transcription, DNA-templated (GO:0006355) 1.563EPCAM, NEUROG3, SLC26A3
regulation of macromolecule biosynthetic process (GO:0010556) 1.433EPCAM, NEUROG3, SLC26A3
negative regulation of cellular process (GO:0048523) 1.413EPCAM, SPINT2, NEUROG3
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562EPCAM, NEUROG3
negative regulation of metabolic process (GO:0009892) 1.932NEUROG3, SPINT2
positive regulation of metabolic process (GO:0009893) 1.742EPCAM, NEUROG3
positive regulation of biosynthetic process (GO:0009891) 2.292EPCAM, NEUROG3
regulation of cell adhesion (GO:0030155) 3.272EPCAM, SPINT2
cell differentiation (GO:0030154) 2.142EPCAM, NEUROG3
regulation of cell-cell adhesion (GO:0022407) 3.792EPCAM, SPINT2
negative regulation of cell adhesion (GO:0007162) 4.332EPCAM, SPINT2
positive regulation of gene expression (GO:0010628) 2.352EPCAM, NEUROG3
nitrogen compound metabolic process (GO:0006807) 1.132NEUROG3, GUCY2C
signal transduction (GO:0007165) 1.282EPCAM, GUCY2C
inorganic ion homeostasis (GO:0098771) 3.432SLC9A3, SLC26A3
organic cyclic compound biosynthetic process (GO:1901362) 1.662NEUROG3, GUCY2C
negative regulation of cell-cell adhesion (GO:0022408) 4.842EPCAM, SPINT2
response to endogenous stimulus (GO:0009719) 2.792SLC9A3, SLC26A3
nucleobase-containing compound metabolic process (GO:0006139) 1.352NEUROG3, GUCY2C
single-organism metabolic process (GO:0044710) 1.632DGAT1, GUCY2C
single-organism biosynthetic process (GO:0044711) 2.82DGAT1, GUCY2C
negative regulation of macromolecule metabolic process (GO:0010605) 2.012NEUROG3, SPINT2
positive regulation of macromolecule metabolic process (GO:0010604) 1.812EPCAM, NEUROG3
cellular macromolecule metabolic process (GO:0044260) 0.932NEUROG3, GUCY2C
cation homeostasis (GO:0055080) 3.462SLC9A3, SLC26A3
regulation of pH (GO:0006885) 5.242SLC9A3, SLC26A3
organic cyclic compound metabolic process (GO:1901360) 1.262NEUROG3, GUCY2C
positive regulation of cellular biosynthetic process (GO:0031328) 2.32EPCAM, NEUROG3
transmembrane transport (GO:0055085) 2.722SLC9A3, SLC26A3
response to organic cyclic compound (GO:0014070) 3.072SLC9A3, SLC26A3
positive regulation of transcription, DNA-templated (GO:0045893) 2.562EPCAM, NEUROG3
organic substance transport (GO:0071702) 2.152SLC26A3, MYO5B
positive regulation of biological process (GO:0048518) 1.22EPCAM, NEUROG3
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812EPCAM, NEUROG3
regulation of molecular function (GO:0065009) 1.782SPINT2, NEUROG3
system process (GO:0003008) 2.32SLC26A3, MYO5B
ion homeostasis (GO:0050801) 3.422SLC9A3, SLC26A3
heterocycle biosynthetic process (GO:0018130) 1.72NEUROG3, GUCY2C
regulation of cell proliferation (GO:0042127) 2.412EPCAM, GUCY2C
negative regulation of cellular metabolic process (GO:0031324) 2.012SPINT2, NEUROG3
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352EPCAM, NEUROG3
ion transport (GO:0006811) 2.662SLC9A3, SLC26A3
inorganic ion transmembrane transport (GO:0098660) 3.382SLC9A3, SLC26A3
cellular aromatic compound metabolic process (GO:0006725) 1.32NEUROG3, GUCY2C
single-organism developmental process (GO:0044767) 1.492NEUROG3, SLC26A3
ion transmembrane transport (GO:0034220) 3.082SLC9A3, SLC26A3
single-organism transport (GO:0044765) 2.182SLC9A3, SLC26A3
regulation of cellular component movement (GO:0051270) 3.082EPCAM, SPINT2
monovalent inorganic cation homeostasis (GO:0055067) 4.932SLC9A3, SLC26A3
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292EPCAM, NEUROG3
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722NEUROG3, GUCY2C
cellular nitrogen compound metabolic process (GO:0034641) 1.222NEUROG3, GUCY2C
response to organic substance (GO:0010033) 2.22SLC9A3, SLC26A3
single-organism localization (GO:1902578) 2.092SLC9A3, SLC26A3
heterocycle metabolic process (GO:0046483) 1.312NEUROG3, GUCY2C
regulation of locomotion (GO:0040012) 3.122EPCAM, SPINT2
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592NEUROG3, GUCY2C
vesicle-mediated transport (GO:0016192) 2.722SLC9A3, MYO5B
anatomical structure development (GO:0048856) 1.582EPCAM, NEUROG3
positive regulation of RNA metabolic process (GO:0051254) 2.512EPCAM, NEUROG3
positive regulation of cellular metabolic process (GO:0031325) 1.812EPCAM, NEUROG3
macromolecule metabolic process (GO:0043170) 0.832NEUROG3, GUCY2C
positive regulation of RNA biosynthetic process (GO:1902680) 2.542EPCAM, NEUROG3
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392EPCAM, NEUROG3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242EPCAM, NEUROG3
regulation of cell motility (GO:2000145) 3.162EPCAM, SPINT2
aromatic compound biosynthetic process (GO:0019438) 1.72NEUROG3, GUCY2C
positive regulation of cellular process (GO:0048522) 1.32EPCAM, NEUROG3
small molecule metabolic process (GO:0044281) 2.382DGAT1, GUCY2C
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.118EPCAM, SPINT2, MYO5B, NEUROG3, SLC26A3, GUCY2C, DGAT1, SLC9A3
membrane (GO:0016020) 0.687EPCAM, SPINT2, MYO5B, SLC26A3, GUCY2C, DGAT1, SLC9A3
membrane part (GO:0044425) 0.956EPCAM, SPINT2, SLC26A3, GUCY2C, DGAT1, SLC9A3
integral component of membrane (GO:0016021) 1.146EPCAM, SPINT2, SLC26A3, GUCY2C, DGAT1, SLC9A3
membrane-bounded organelle (GO:0043227) 0.476EPCAM, GUCY2C, MYO5B, NEUROG3, DGAT1, SLC9A3
organelle (GO:0043226) 0.46EPCAM, GUCY2C, MYO5B, NEUROG3, DGAT1, SLC9A3
intrinsic component of membrane (GO:0031224) 1.136EPCAM, SPINT2, SLC26A3, GUCY2C, DGAT1, SLC9A3
intracellular part (GO:0044424) 0.285NEUROG3, MYO5B, DGAT1, GUCY2C, SPINT2
intracellular organelle (GO:0043229) 0.514NEUROG3, MYO5B, DGAT1, GUCY2C
intracellular membrane-bounded organelle (GO:0043231) 0.64NEUROG3, MYO5B, DGAT1, GUCY2C
organelle part (GO:0044422) 0.794SLC26A3, DGAT1, MYO5B, GUCY2C
plasma membrane (GO:0005886) 1.394EPCAM, GUCY2C, SLC26A3, SLC9A3
cytoplasm (GO:0005737) 1.013NEUROG3, MYO5B, SPINT2
plasma membrane region (GO:0098590) 2.973EPCAM, SLC9A3, SLC26A3
extracellular organelle (GO:0043230) 1.893EPCAM, SLC9A3, MYO5B
vesicle (GO:0031982) 1.643EPCAM, SLC9A3, MYO5B
apical plasma membrane (GO:0016324) 4.133EPCAM, SLC9A3, SLC26A3
membrane-bounded vesicle (GO:0031988) 1.713EPCAM, SLC9A3, MYO5B
intracellular organelle part (GO:0044446) 0.813DGAT1, MYO5B, GUCY2C
cytoplasmic part (GO:0044444) 0.823DGAT1, MYO5B, GUCY2C
extracellular vesicle (GO:1903561) 1.893EPCAM, SLC9A3, MYO5B
plasma membrane part (GO:0044459) 1.953EPCAM, SLC9A3, SLC26A3
extracellular region part (GO:0044421) 1.573EPCAM, SLC9A3, MYO5B
extracellular exosome (GO:0070062) 1.893EPCAM, SLC9A3, MYO5B
protein complex (GO:0043234) 1.512GUCY2C, MYO5B
macromolecular complex (GO:0032991) 1.352GUCY2C, MYO5B
endoplasmic reticulum (GO:0005783) 2.562DGAT1, GUCY2C
cell surface (GO:0009986) 3.442EPCAM, SLC9A3
cell projection part (GO:0044463) 2.972SLC9A3, SLC26A3
cell projection membrane (GO:0031253) 4.112SLC9A3, SLC26A3
endoplasmic reticulum membrane (GO:0005789) 2.952DGAT1, GUCY2C
endoplasmic reticulum part (GO:0044432) 2.732DGAT1, GUCY2C
integral component of plasma membrane (GO:0005887) 2.572EPCAM, SLC26A3
brush border membrane (GO:0031526) 5.782SLC9A3, SLC26A3
intrinsic component of plasma membrane (GO:0031226) 2.532EPCAM, SLC26A3

NET-GE enrichment

Term New enriched termICP valueGenes
apical plasma membrane (GO:0016324) -4.130.006EPCAM, MYO5B, SLC9A3, SLC26A3
plasma membrane region (GO:0098590) -2.970.029EPCAM, SLC9A3, SLC26A3
membrane region (GO:0098589) NEW3.950.004EPCAM, DGAT1, SLC9A3, SLC26A3, GUCY2C
brush border (GO:0005903) NEW5.680.02GUCY2C, SLC9A3
brush border membrane (GO:0031526) -5.780.008SLC9A3, SLC26A3