Disease table of HETEROTAXY, VISCERAL OMIM ID: PS306955

Gene-disease associations table

GeneAssociated with HETEROTAXY, VISCERAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ACVR2BClinVar, OMIM, HUMSAVARHGNC link3p22.21PS306955
NODALClinVar, OMIM, HUMSAVARHGNC link10q22.11PS306955
CFAP53ClinVar, OMIMHGNC link18q21.11PS306955
ZIC3ClinVar, OMIM, HUMSAVARHGNC linkXq26.32314390, PS306955
MMP21OMIMHGNC link10q26.21PS306955
CFC1ClinVar, OMIM, HUMSAVARHGNC link2q21.11PS306955

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
10q22MMP21, NODAL
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
10q2MMP21, NODAL
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
102MMP21, NODAL
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
ACVR2BNODALYesactivation, binding10CFC1, ACVR2A, INHBC, INHBB, ACVR1C, INHBE, SMAD2, TDGF1, ACVR1B, INHBA
ACVR2BCFC1Yesbinding5TDGF1, ACVR1C, NODAL, ACVR1B, ACVR2A
NODALCFC1Yesbinding5ACVR1B, ACVR2B, TDGF1, ACVR1C, ACVR2A

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
ACVR2BNODALNo1BMP2

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

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
Signaling pathways regulating pluripotency of stem cellshsa045505.63ACVR2B, NODAL, ZIC3
TGF-beta signaling pathwayhsa043506.412ACVR2B, NODAL

NET-GE enrichment

Term New enriched termICP valueGenes
TGF-beta signaling pathway (hsa04350) -6.410.004ACVR2B, NODAL
Signaling pathways regulating pluripotency of stem cells (hsa04550) -5.60.0ACVR2B, NODAL, ZIC3
Cellular communityNEW3.570.005ACVR2B, NODAL, ZIC3
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Developmental BiologyR-HSA-12667383.484ACVR2B, NODAL, CFC1, ZIC3
Regulation of signaling by NODALR-HSA-14336179.663ACVR2B, NODAL, CFC1
Signaling by NODALR-HSA-11811508.733ACVR2B, NODAL, CFC1

NET-GE enrichment

Term New enriched termICP valueGenes
Regulation of signaling by NODAL (R-HSA-1433617) -9.660.0ACVR2B, NODAL, CFC1
Signaling by NODAL (R-HSA-1181150) -8.730.0ACVR2B, NODAL, CFC1
Developmental Biology (R-HSA-1266738) -3.480.022ACVR2B, NODAL, CFC1, ZIC3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.186CFC1, ZIC3, CFAP53, NODAL, MMP21, ACVR2B
protein binding (GO:0005515) 0.465ACVR2B, CFC1, NODAL, CFAP53, ZIC3
cation binding (GO:0043169) 1.43ACVR2B, MMP21, ZIC3
metal ion binding (GO:0046872) 1.413ACVR2B, MMP21, ZIC3
ion binding (GO:0043167) 1.363ACVR2B, MMP21, ZIC3
catalytic activity (GO:0003824) 1.052ACVR2B, MMP21
heterocyclic compound binding (GO:1901363) 1.062ACVR2B, ZIC3
signal transducer activity (GO:0004871) 2.282ACVR2B, NODAL
organic cyclic compound binding (GO:0097159) 1.052ACVR2B, ZIC3

NET-GE enrichment

Term New enriched termICP valueGenes
activin receptor binding (GO:0070697) NEW8.130.0ACVR2B, NODAL
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism developmental process (GO:0044767) 1.496CFC1, ZIC3, CFAP53, NODAL, MMP21, ACVR2B
developmental process (GO:0032502) 1.366CFC1, ZIC3, CFAP53, NODAL, MMP21, ACVR2B
single-organism process (GO:0044699) 0.486CFC1, ZIC3, CFAP53, NODAL, MMP21, ACVR2B
pattern specification process (GO:0007389) 3.795ACVR2B, CFC1, NODAL, MMP21, ZIC3
multicellular organismal process (GO:0032501) 1.455ACVR2B, CFC1, NODAL, MMP21, ZIC3
single-multicellular organism process (GO:0044707) 1.785ACVR2B, CFC1, NODAL, MMP21, ZIC3
determination of left/right symmetry (GO:0007368) 5.385ACVR2B, CFC1, NODAL, MMP21, ZIC3
anatomical structure development (GO:0048856) 1.585ACVR2B, CFC1, NODAL, MMP21, ZIC3
single-organism cellular process (GO:0044763) 0.655CFAP53, ACVR2B, NODAL, MMP21, ZIC3
determination of bilateral symmetry (GO:0009855) 5.375ACVR2B, CFC1, NODAL, MMP21, ZIC3
specification of symmetry (GO:0009799) 5.365ACVR2B, CFC1, NODAL, MMP21, ZIC3
cellular process (GO:0009987) 0.265CFAP53, ACVR2B, NODAL, MMP21, ZIC3
embryonic morphogenesis (GO:0048598) 3.724ACVR2B, NODAL, CFC1, ZIC3
cellular developmental process (GO:0048869) 1.824ACVR2B, NODAL, MMP21, ZIC3
cell differentiation (GO:0030154) 2.144ACVR2B, NODAL, MMP21, ZIC3
regulation of cellular process (GO:0050794) 0.54ACVR2B, NODAL, CFC1, ZIC3
biological regulation (GO:0065007) 0.394ACVR2B, NODAL, CFC1, ZIC3
anatomical structure morphogenesis (GO:0009653) 2.534ACVR2B, NODAL, CFC1, ZIC3
regulation of biological process (GO:0050789) 0.454ACVR2B, NODAL, CFC1, ZIC3
activin receptor signaling pathway (GO:0032924) 6.643ACVR2B, NODAL, CFC1
positive regulation of metabolic process (GO:0009893) 1.743ACVR2B, NODAL, ZIC3
regulation of metabolic process (GO:0019222) 1.023ACVR2B, NODAL, ZIC3
regulation of cellular biosynthetic process (GO:0031326) 1.383ACVR2B, NODAL, ZIC3
positive regulation of cellular metabolic process (GO:0031325) 1.813ACVR2B, NODAL, ZIC3
regulation of cellular metabolic process (GO:0031323) 1.073ACVR2B, NODAL, ZIC3
signal transduction (GO:0007165) 1.283ACVR2B, NODAL, CFC1
cell surface receptor signaling pathway (GO:0007166) 2.093ACVR2B, NODAL, CFC1
enzyme linked receptor protein signaling pathway (GO:0007167) 3.243ACVR2B, NODAL, CFC1
lung development (GO:0030324) 5.133ACVR2B, NODAL, ZIC3
multicellular organism development (GO:0007275) 2.543CFC1, NODAL, ZIC3
regulation of primary metabolic process (GO:0080090) 1.083ACVR2B, NODAL, ZIC3
positive regulation of macromolecule metabolic process (GO:0010604) 1.813ACVR2B, NODAL, ZIC3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243ACVR2B, NODAL, ZIC3
regulation of nitrogen compound metabolic process (GO:0051171) 1.363ACVR2B, NODAL, ZIC3
gastrulation (GO:0007369) 5.93ACVR2B, NODAL, CFC1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463ACVR2B, NODAL, ZIC3
organic substance metabolic process (GO:0071704) 0.633ACVR2B, MMP21, ZIC3
animal organ development (GO:0048513) 2.533ACVR2B, NODAL, ZIC3
positive regulation of biological process (GO:0048518) 1.23ACVR2B, NODAL, ZIC3
regulation of gene expression (GO:0010468) 1.373ACVR2B, NODAL, ZIC3
anatomical structure formation involved in morphogenesis (GO:0048646) 3.013ACVR2B, NODAL, CFAP53
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433ACVR2B, NODAL, ZIC3
regulation of biosynthetic process (GO:0009889) 1.373ACVR2B, NODAL, ZIC3
regulation of nucleic acid-templated transcription (GO:1903506) 1.553ACVR2B, NODAL, ZIC3
regionalization (GO:0003002) 4.243ACVR2B, NODAL, ZIC3
metabolic process (GO:0008152) 0.583ACVR2B, MMP21, ZIC3
regulation of RNA biosynthetic process (GO:2001141) 1.553ACVR2B, NODAL, ZIC3
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) 4.63ACVR2B, NODAL, CFC1
primary metabolic process (GO:0044238) 0.693ACVR2B, MMP21, ZIC3
anterior/posterior pattern specification (GO:0009952) 4.713ACVR2B, NODAL, ZIC3
regulation of macromolecule metabolic process (GO:0060255) 1.083ACVR2B, NODAL, ZIC3
regulation of RNA metabolic process (GO:0051252) 1.523ACVR2B, NODAL, ZIC3
macromolecule metabolic process (GO:0043170) 0.833ACVR2B, MMP21, ZIC3
regulation of transcription, DNA-templated (GO:0006355) 1.563ACVR2B, NODAL, ZIC3
regulation of macromolecule biosynthetic process (GO:0010556) 1.433ACVR2B, NODAL, ZIC3
system development (GO:0048731) 2.923ACVR2B, NODAL, ZIC3
positive regulation of cellular process (GO:0048522) 1.33ACVR2B, NODAL, ZIC3
regulation of phosphate metabolic process (GO:0019220) 2.352ACVR2B, NODAL
regulation of activin receptor signaling pathway (GO:0032925) 6.512ACVR2B, NODAL
positive regulation of activin receptor signaling pathway (GO:0032927) 7.532ACVR2B, NODAL
positive regulation of response to stimulus (GO:0048584) 2.182ACVR2B, NODAL
regulation of response to stimulus (GO:0048583) 1.542ACVR2B, NODAL
BMP signaling pathway (GO:0030509) 5.332ACVR2B, NODAL
cellular component organization or biogenesis (GO:0071840) 1.222CFAP53, NODAL
negative regulation of macromolecule metabolic process (GO:0010605) 2.012ACVR2B, NODAL
regulation of signal transduction (GO:0009966) 1.842ACVR2B, NODAL
positive regulation of signal transduction (GO:0009967) 2.52ACVR2B, NODAL
positive regulation of molecular function (GO:0044093) 2.232ACVR2B, NODAL
negative regulation of biological process (GO:0048519) 1.332ACVR2B, NODAL
regulation of phosphorylation (GO:0042325) 2.52ACVR2B, NODAL
stem cell population maintenance (GO:0019827) 4.832NODAL, ZIC3
positive regulation of phosphorylation (GO:0042327) 2.92ACVR2B, NODAL
protein metabolic process (GO:0019538) 1.452ACVR2B, MMP21
negative regulation of metabolic process (GO:0009892) 1.932ACVR2B, NODAL
negative regulation of biosynthetic process (GO:0009890) 2.472ACVR2B, NODAL
positive regulation of biosynthetic process (GO:0009891) 2.292NODAL, ZIC3
movement of cell or subcellular component (GO:0006928) 2.612CFAP53, NODAL
negative regulation of gene expression (GO:0010629) 2.482ACVR2B, NODAL
positive regulation of gene expression (GO:0010628) 2.352NODAL, ZIC3
cellular macromolecule metabolic process (GO:0044260) 0.932ACVR2B, ZIC3
blood vessel development (GO:0001568) 4.952ACVR2B, MMP21
cellular component organization (GO:0016043) 1.242CFAP53, NODAL
regulation of molecular function (GO:0065009) 1.782ACVR2B, NODAL
skeletal system morphogenesis (GO:0048705) 4.982ACVR2B, NODAL
organ morphogenesis (GO:0009887) 3.552ACVR2B, NODAL
regulation of developmental process (GO:0050793) 2.12ACVR2B, NODAL
regulation of catalytic activity (GO:0050790) 1.972ACVR2B, NODAL
tissue development (GO:0009888) 3.272ACVR2B, NODAL
maintenance of cell number (GO:0098727) 4.822NODAL, ZIC3
regulation of multicellular organismal process (GO:0051239) 1.872ACVR2B, NODAL
regulation of phosphorus metabolic process (GO:0051174) 2.352ACVR2B, NODAL
nodal signaling pathway (GO:0038092) 7.532CFC1, NODAL
positive regulation of protein modification process (GO:0031401) 2.72ACVR2B, NODAL
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392NODAL, ZIC3
positive regulation of multicellular organismal process (GO:0051240) 2.492ACVR2B, NODAL
regulation of protein metabolic process (GO:0051246) 1.932ACVR2B, NODAL
positive regulation of signaling (GO:0023056) 2.412ACVR2B, NODAL
regulation of signaling (GO:0023051) 1.722ACVR2B, NODAL
positive regulation of cell communication (GO:0010647) 2.412ACVR2B, NODAL
regulation of cell communication (GO:0010646) 1.732ACVR2B, NODAL
positive regulation of catalytic activity (GO:0043085) 2.42ACVR2B, NODAL
gastrulation with mouth forming second (GO:0001702) 6.842ACVR2B, NODAL
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122ACVR2B, NODAL
positive regulation of phosphorus metabolic process (GO:0010562) 2.782ACVR2B, NODAL
vasculature development (GO:0001944) 6.042ACVR2B, NODAL
positive regulation of protein metabolic process (GO:0051247) 2.432ACVR2B, NODAL
heart looping (GO:0001947) 5.652NODAL, ZIC3
positive regulation of cellular protein metabolic process (GO:0032270) 2.492ACVR2B, NODAL
regulation of protein modification process (GO:0031399) 2.322ACVR2B, NODAL
epithelial tube morphogenesis (GO:0060562) 5.122NODAL, ZIC3
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562NODAL, ZIC3
tube morphogenesis (GO:0035239) 4.352NODAL, ZIC3
embryonic heart tube morphogenesis (GO:0003143) 5.572NODAL, ZIC3
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712ACVR2B, NODAL
regulation of cell differentiation (GO:0045595) 2.422ACVR2B, NODAL
negative regulation of transcription, DNA-templated (GO:0045892) 2.752ACVR2B, NODAL
positive regulation of transcription, DNA-templated (GO:0045893) 2.562NODAL, ZIC3
regulation of cellular protein metabolic process (GO:0032268) 1.992ACVR2B, NODAL
positive regulation of developmental process (GO:0051094) 2.772ACVR2B, NODAL
negative regulation of RNA metabolic process (GO:0051253) 2.662ACVR2B, NODAL
positive regulation of RNA metabolic process (GO:0051254) 2.512NODAL, ZIC3
positive regulation of RNA biosynthetic process (GO:1902680) 2.542NODAL, ZIC3
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812NODAL, ZIC3
positive regulation of cellular biosynthetic process (GO:0031328) 2.32NODAL, ZIC3
negative regulation of cellular biosynthetic process (GO:0031327) 2.492ACVR2B, NODAL
negative regulation of cellular metabolic process (GO:0031324) 2.012ACVR2B, NODAL
morphogenesis of an epithelium (GO:0002009) 4.082NODAL, ZIC3
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62ACVR2B, NODAL
tissue morphogenesis (GO:0048729) 3.872NODAL, ZIC3
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.392ACVR2B, NODAL
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352NODAL, ZIC3
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552ACVR2B, NODAL
positive regulation of phosphate metabolic process (GO:0045937) 2.782ACVR2B, NODAL
negative regulation of RNA biosynthetic process (GO:1902679) 2.72ACVR2B, NODAL
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472ACVR2B, NODAL
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292NODAL, ZIC3
heart development (GO:0007507) 4.242ACVR2B, NODAL
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100) 5.122ACVR2B, NODAL
nervous system development (GO:0007399) 3.532NODAL, ZIC3
cellular metabolic process (GO:0044237) 0.692ACVR2B, ZIC3
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532ACVR2B, NODAL
regulation of multicellular organismal development (GO:2000026) 2.312ACVR2B, NODAL
regulation of protein phosphorylation (GO:0001932) 2.572ACVR2B, NODAL
positive regulation of protein phosphorylation (GO:0001934) 2.952ACVR2B, NODAL
negative regulation of cellular process (GO:0048523) 1.412ACVR2B, NODAL

NET-GE enrichment

Term New enriched termICP valueGenes
embryonic morphogenesis (GO:0048598) -3.720.001ACVR2B, NODAL, CFC1, ZIC3
pattern specification process (GO:0007389) -3.790.001ACVR2B, NODAL, CFC1, ZIC3
activin receptor signaling pathway (GO:0032924) -6.640.0ACVR2B, NODAL, CFC1
regulation of activin receptor signaling pathway (GO:0032925) -6.510.016ACVR2B, NODAL
positive regulation of activin receptor signaling pathway (GO:0032927) -7.530.001ACVR2B, NODAL
determination of left/right symmetry (GO:0007368) -5.380.0ACVR2B, CFC1, ZIC3
gastrulation (GO:0007369) -5.90.034ACVR2B, NODAL, CFC1
vasculature development (GO:0001944) -6.040.027ACVR2B, NODAL
determination of bilateral symmetry (GO:0009855) -5.370.0ACVR2B, CFC1, ZIC3
specification of symmetry (GO:0009799) -5.360.002ACVR2B, CFC1, ZIC3
nodal signaling pathway (GO:0038092) -7.530.002CFC1, NODAL
mesendoderm development (GO:0048382) NEW9.040.0ACVR2B, NODAL
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) -4.60.009ACVR2B, NODAL, CFC1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.114ACVR2B, CFC1, CFAP53, ZIC3
extracellular region (GO:0005576) 2.183MMP21, NODAL, CFC1
cytoplasm (GO:0005737) 1.012ACVR2B, ZIC3
membrane (GO:0016020) 0.682ACVR2B, CFC1
extracellular region part (GO:0044421) 1.572MMP21, NODAL
plasma membrane (GO:0005886) 1.392ACVR2B, CFC1
intracellular part (GO:0044424) 0.282ACVR2B, ZIC3
membrane part (GO:0044425) 0.952ACVR2B, CFC1
organelle (GO:0043226) 0.42CFAP53, ZIC3
intrinsic component of membrane (GO:0031224) 1.132ACVR2B, CFC1