Disease table of ECTODERMAL DYSPLASIA (SELECT EXAMPLES) OMIM ID: PS305100

Gene-disease associations table

GeneAssociated with ECTODERMAL DYSPLASIA (SELECT EXAMPLES) inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EDARADDClinVar, OMIM, HUMSAVARHGNC link1q42.31PS305100
KRT74ClinVar, OMIM, HUMSAVARHGNC link12q13.133PS605389, PS305100, 194300
EDAClinVar, OMIM, HUMSAVARHGNC linkXq13.12PS106600, PS305100
KRT85ClinVar, OMIM, HUMSAVARHGNC link12q13.131PS305100
GJB6ClinVar, OMIM, HUMSAVARHGNC link13q12.113PS220290, PS305100, PS124900
HOXC13ClinVar, OMIMHGNC link12q13.131PS305100
EDARClinVar, OMIM, HUMSAVARHGNC link2q132PS305100, 612630
MSX1ClinVar, OMIMHGNC link4p16.23PS106600, PS305100, PS119530

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 5732KRT85, KRT74
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
12q13.133KRT85, HOXC13, KRT74
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
12q133KRT85, HOXC13, KRT74
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
12q13KRT85, HOXC13, KRT74
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
12q3KRT85, HOXC13, KRT74
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
123KRT85, HOXC13, KRT74
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
HOXC13YES2DSG4, SPI10
MSX1YES6HEY1, DLK1, CGA, DKK1, NOTCH3, ZHX20
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
EDAYES1LEF10
MSX1YES2PHOX2B, FOXE10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
EDARADDEDANo1EDAR
EDARADDEDARYes1EDARADD
EDAEDARYes0

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
EDARADDEDANo-1EDAR
EDARADDEDARYesbinding0
EDAEDARYesactivation0

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
Cytokine-cytokine receptor interactionhsa040604.672EDA, EDAR

NET-GE enrichment

Term New enriched termICP valueGenes
Cytokine-cytokine receptor interaction (hsa04060) -4.670.031EDA, EDAR
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cytokine Signaling in Immune systemR-HSA-12802153.743EDA, EDAR, EDARADD
TNFs bind their physiological receptorsR-HSA-56690348.343EDA, EDAR, EDARADD
TNFR2 non-canonical NF-kB pathwayR-HSA-56685416.43EDA, EDAR, EDARADD
Immune SystemR-HSA-1682562.373EDA, EDAR, EDARADD

NET-GE enrichment

Term New enriched termICP valueGenes
Cytokine Signaling in Immune system (R-HSA-1280215) -3.740.016EDA, EDAR, EDARADD
TNFR2 non-canonical NF-kB pathway (R-HSA-5668541) -6.40.0EDA, EDAR, EDARADD
TNFs bind their physiological receptors (R-HSA-5669034) -8.340.0EDA, EDAR, EDARADD
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.186EDA, EDAR, HOXC13, EDARADD, MSX1, KRT74
protein binding (GO:0005515) 0.466EDA, EDAR, HOXC13, EDARADD, MSX1, KRT74
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982) 3.942HOXC13, MSX1
sequence-specific DNA binding (GO:0043565) 2.792HOXC13, MSX1
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.652HOXC13, MSX1
organic cyclic compound binding (GO:0097159) 1.052HOXC13, MSX1
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001228) 3.982HOXC13, MSX1
structural molecule activity (GO:0005198) 3.12KRT74, KRT85
macromolecular complex binding (GO:0044877) 2.612KRT74, HOXC13
nucleic acid binding transcription factor activity (GO:0001071) 2.652HOXC13, MSX1
nucleic acid binding (GO:0003676) 1.442HOXC13, MSX1
DNA binding (GO:0003677) 1.922HOXC13, MSX1
heterocyclic compound binding (GO:1901363) 1.062HOXC13, MSX1
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292HOXC13, MSX1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.367EDA, EDAR, GJB6, EDARADD, MSX1, KRT85, HOXC13
cellular process (GO:0009987) 0.267EDA, EDAR, GJB6, EDARADD, MSX1, KRT74, HOXC13
anatomical structure development (GO:0048856) 1.587EDA, EDAR, GJB6, EDARADD, MSX1, KRT85, HOXC13
single-organism process (GO:0044699) 0.487EDA, EDAR, GJB6, EDARADD, MSX1, KRT74, HOXC13
multicellular organismal process (GO:0032501) 1.456EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
regulation of cellular process (GO:0050794) 0.56EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
single-organism developmental process (GO:0044767) 1.496EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
biological regulation (GO:0065007) 0.396EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
single-organism cellular process (GO:0044763) 0.656EDA, EDAR, GJB6, EDARADD, MSX1, KRT74
regulation of biological process (GO:0050789) 0.456EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
organ morphogenesis (GO:0009887) 3.555EDA, GJB6, HOXC13, EDAR, MSX1
anatomical structure morphogenesis (GO:0009653) 2.535EDA, GJB6, HOXC13, EDAR, MSX1
multicellular organism development (GO:0007275) 2.545EDA, HOXC13, MSX1, EDARADD, EDAR
single-multicellular organism process (GO:0044707) 1.785EDA, HOXC13, MSX1, EDARADD, EDAR
positive regulation of metabolic process (GO:0009893) 1.744EDA, HOXC13, EDAR, MSX1
regulation of metabolic process (GO:0019222) 1.024EDA, HOXC13, EDAR, MSX1
regulation of macromolecule metabolic process (GO:0060255) 1.084EDA, HOXC13, EDAR, MSX1
cellular developmental process (GO:0048869) 1.824EDA, MSX1, EDARADD, EDAR
regulation of cellular metabolic process (GO:0031323) 1.074EDA, HOXC13, EDAR, MSX1
cell differentiation (GO:0030154) 2.144EDA, MSX1, EDARADD, EDAR
regulation of primary metabolic process (GO:0080090) 1.084EDA, HOXC13, EDAR, MSX1
tissue development (GO:0009888) 3.274EDA, KRT85, EDAR, MSX1
metabolic process (GO:0008152) 0.584EDA, HOXC13, MSX1, EDARADD
organic substance metabolic process (GO:0071704) 0.634EDA, HOXC13, MSX1, EDARADD
positive regulation of gene expression (GO:0010628) 2.354EDA, HOXC13, EDAR, MSX1
signal transduction (GO:0007165) 1.284EDA, MSX1, EDARADD, EDAR
cell surface receptor signaling pathway (GO:0007166) 2.094EDA, MSX1, EDARADD, EDAR
positive regulation of biological process (GO:0048518) 1.24EDA, HOXC13, EDAR, MSX1
positive regulation of macromolecule metabolic process (GO:0010604) 1.814EDA, HOXC13, EDAR, MSX1
regulation of gene expression (GO:0010468) 1.374EDA, HOXC13, EDAR, MSX1
positive regulation of cellular process (GO:0048522) 1.34EDA, HOXC13, EDAR, MSX1
cytokine-mediated signaling pathway (GO:0019221) 3.63EDA, EDAR, EDARADD
regulation of cellular biosynthetic process (GO:0031326) 1.383EDA, HOXC13, MSX1
positive regulation of cellular metabolic process (GO:0031325) 1.813HOXC13, EDAR, MSX1
positive regulation of response to stimulus (GO:0048584) 2.183EDA, EDAR, MSX1
regulation of response to stimulus (GO:0048583) 1.543EDA, EDAR, MSX1
positive regulation of signaling (GO:0023056) 2.413EDA, EDAR, MSX1
molting cycle process (GO:0022404) 5.543EDA, HOXC13, EDAR
hair cycle process (GO:0022405) 5.543EDA, HOXC13, EDAR
nitrogen compound metabolic process (GO:0006807) 1.133HOXC13, MSX1, EDARADD
regulation of signaling (GO:0023051) 1.723EDA, EDAR, MSX1
positive regulation of cell communication (GO:0010647) 2.413EDA, EDAR, MSX1
regulation of cell communication (GO:0010646) 1.733EDA, EDAR, MSX1
organic cyclic compound metabolic process (GO:1901360) 1.263HOXC13, MSX1, EDARADD
nucleobase-containing compound metabolic process (GO:0006139) 1.353HOXC13, MSX1, EDARADD
regulation of signal transduction (GO:0009966) 1.843EDA, EDAR, MSX1
positive regulation of signal transduction (GO:0009967) 2.53EDA, EDAR, MSX1
hair follicle development (GO:0001942) 6.023EDA, HOXC13, EDAR
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463EDA, HOXC13, MSX1
tumor necrosis factor-mediated signaling pathway (GO:0033209) 4.963EDA, EDAR, EDARADD
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433EDA, HOXC13, MSX1
cellular aromatic compound metabolic process (GO:0006725) 1.33HOXC13, MSX1, EDARADD
regulation of biosynthetic process (GO:0009889) 1.373EDA, HOXC13, MSX1
regulation of nucleic acid-templated transcription (GO:1903506) 1.553EDA, HOXC13, MSX1
regulation of nitrogen compound metabolic process (GO:0051171) 1.363EDA, HOXC13, MSX1
regulation of RNA biosynthetic process (GO:2001141) 1.553EDA, HOXC13, MSX1
positive regulation of intracellular signal transduction (GO:1902533) 2.953EDA, EDAR, MSX1
regulation of intracellular signal transduction (GO:1902531) 2.313EDA, EDAR, MSX1
heterocycle metabolic process (GO:0046483) 1.313HOXC13, MSX1, EDARADD
primary metabolic process (GO:0044238) 0.693HOXC13, MSX1, EDARADD
odontogenesis of dentin-containing tooth (GO:0042475) 5.523EDA, EDAR, MSX1
odontogenesis (GO:0042476) 5.193EDA, EDAR, MSX1
regulation of RNA metabolic process (GO:0051252) 1.523EDA, HOXC13, MSX1
cellular nitrogen compound metabolic process (GO:0034641) 1.223HOXC13, MSX1, EDARADD
cellular metabolic process (GO:0044237) 0.693HOXC13, MSX1, EDARADD
macromolecule metabolic process (GO:0043170) 0.833EDA, HOXC13, MSX1
regulation of transcription, DNA-templated (GO:0006355) 1.563EDA, HOXC13, MSX1
regulation of macromolecule biosynthetic process (GO:0010556) 1.433EDA, HOXC13, MSX1
regulation of intracellular protein transport (GO:0033157) 3.82EDA, EDAR
positive regulation of intracellular transport (GO:0032388) 4.082EDA, EDAR
RNA biosynthetic process (GO:0032774) 1.842HOXC13, MSX1
regulation of cellular localization (GO:0060341) 3.032EDA, EDAR
positive regulation of biosynthetic process (GO:0009891) 2.292HOXC13, MSX1
regulation of transport (GO:0051049) 2.242EDA, EDAR
regulation of intracellular transport (GO:0032386) 3.582EDA, EDAR
regulation of protein localization to nucleus (GO:1900180) 4.342EDA, EDAR
tube formation (GO:0035148) 4.982EDA, EDAR
regulation of cellular protein localization (GO:1903827) 3.432EDA, EDAR
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722HOXC13, MSX1
cellular component organization (GO:0016043) 1.242KRT74, MSX1
regulation of protein targeting (GO:1903533) 4.02EDA, EDAR
organic substance biosynthetic process (GO:1901576) 1.342HOXC13, MSX1
positive regulation of protein transport (GO:0051222) 3.612EDA, EDAR
regulation of protein transport (GO:0051223) 3.122EDA, EDAR
organic cyclic compound biosynthetic process (GO:1901362) 1.662HOXC13, MSX1
cell death (GO:0008219) 3.052GJB6, EDAR
positive regulation of cellular protein localization (GO:1903829) 3.852EDA, EDAR
regulation of protein localization (GO:0032880) 2.882EDA, EDAR
pattern specification process (GO:0007389) 3.792HOXC13, MSX1
nucleic acid metabolic process (GO:0090304) 1.462HOXC13, MSX1
epidermis development (GO:0008544) 5.042KRT85, EDAR
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812HOXC13, MSX1
cellular macromolecule metabolic process (GO:0044260) 0.932HOXC13, MSX1
regulation of cell proliferation (GO:0042127) 2.412GJB6, MSX1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32HOXC13, MSX1
positive regulation of nucleocytoplasmic transport (GO:0046824) 4.932EDA, EDAR
nucleic acid-templated transcription (GO:0097659) 1.912HOXC13, MSX1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562HOXC13, MSX1
animal organ development (GO:0048513) 2.532EDA, MSX1
cellular component organization or biogenesis (GO:0071840) 1.222KRT74, MSX1
transcription from RNA polymerase II promoter (GO:0006366) 3.382HOXC13, MSX1
negative regulation of biological process (GO:0048519) 1.332GJB6, MSX1
regulation of molecular function (GO:0065009) 1.782EDA, MSX1
regulation of biological quality (GO:0065008) 1.682GJB6, MSX1
regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122) 4.272EDA, EDAR
heterocycle biosynthetic process (GO:0018130) 1.72HOXC13, MSX1
embryonic morphogenesis (GO:0048598) 3.722GJB6, MSX1
negative regulation of cell proliferation (GO:0008285) 3.262GJB6, MSX1
regulation of establishment of protein localization (GO:0070201) 3.022EDA, EDAR
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352HOXC13, MSX1
transcription, DNA-templated (GO:0006351) 1.912HOXC13, MSX1
positive regulation of transport (GO:0051050) 2.92EDA, EDAR
apoptotic process (GO:0006915) 3.142GJB6, EDAR
positive regulation of intracellular protein transport (GO:0090316) 4.192EDA, EDAR
cellular macromolecule biosynthetic process (GO:0034645) 1.662HOXC13, MSX1
programmed cell death (GO:0012501) 3.12GJB6, EDAR
biosynthetic process (GO:0009058) 1.322HOXC13, MSX1
tube lumen cavitation (GO:0060605) 8.122EDA, EDAR
regionalization (GO:0003002) 4.242HOXC13, MSX1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292HOXC13, MSX1
positive regulation of protein import into nucleus (GO:0042307) 5.112EDA, EDAR
regulation of protein import into nucleus (GO:0042306) 4.542EDA, EDAR
regulation of localization (GO:0032879) 1.942EDA, EDAR
positive regulation of transcription factor import into nucleus (GO:0042993) 5.782EDA, EDAR
regulation of transcription factor import into nucleus (GO:0042990) 5.162EDA, EDAR
positive regulation of NF-kappaB import into nucleus (GO:0042346) 6.432EDA, EDAR
RNA metabolic process (GO:0016070) 1.592HOXC13, MSX1
pigmentation (GO:0043473) 5.92EDA, EDAR
positive regulation of protein localization to nucleus (GO:1900182) 4.872EDA, EDAR
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592HOXC13, MSX1
anterior/posterior pattern specification (GO:0009952) 4.712HOXC13, MSX1
regulation of NF-kappaB import into nucleus (GO:0042345) 5.862EDA, EDAR
sensory organ morphogenesis (GO:0090596) 5.722HOXC13, GJB6
response to stimulus (GO:0050896) 1.222EDA, GJB6
regulation of cellular response to stress (GO:0080135) 3.42EDAR, MSX1
salivary gland cavitation (GO:0060662) 8.122EDA, EDAR
positive regulation of RNA metabolic process (GO:0051254) 2.512HOXC13, MSX1
macromolecule biosynthetic process (GO:0009059) 1.612HOXC13, MSX1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542HOXC13, MSX1
positive regulation of protein import (GO:1904591) 5.082EDA, EDAR
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392HOXC13, MSX1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242HOXC13, MSX1
regulation of nucleocytoplasmic transport (GO:0046822) 4.332EDA, EDAR
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012EDA, EDAR
regulation of protein import (GO:1904589) 4.522EDA, EDAR
aromatic compound biosynthetic process (GO:0019438) 1.72HOXC13, MSX1
positive regulation of establishment of protein localization (GO:1904951) 3.492EDA, EDAR
positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) 4.542EDA, EDAR
cellular biosynthetic process (GO:0044249) 1.372HOXC13, MSX1
regulation of response to stress (GO:0080134) 2.532EDAR, MSX1
negative regulation of cellular process (GO:0048523) 1.412GJB6, MSX1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562HOXC13, MSX1

NET-GE enrichment

Term New enriched termICP valueGenes
pigmentation (GO:0043473) -5.90.035EDA, EDAR
organ morphogenesis (GO:0009887) -3.550.0EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
anatomical structure morphogenesis (GO:0009653) -2.530.001EDA, EDAR, GJB6, MSX1, EDARADD, HOXC13
odontogenesis of dentin-containing tooth (GO:0042475) -5.520.0EDA, MSX1, EDARADD, EDAR
positive regulation of NF-kappaB import into nucleus (GO:0042346) -6.430.013EDA, EDAR, EDARADD
regulation of NF-kappaB import into nucleus (GO:0042345) -5.860.004EDA, EDAR, EDARADD
odontogenesis (GO:0042476) -5.190.002EDA, MSX1, EDARADD, EDAR
epithelium development (GO:0060429) NEW4.570.0EDA, EDAR, GJB6, EDARADD, MSX1, KRT85, HOXC13
hair follicle development (GO:0001942) -6.020.0EDA, HOXC13, EDAR, EDARADD
anatomical structure development (GO:0048856) -1.580.003EDA, EDAR, GJB6, EDARADD, MSX1, KRT85, HOXC13
hair cycle process (GO:0022405) -5.540.001EDA, HOXC13, EDAR, EDARADD
gland development (GO:0048732) NEW4.150.028EDA, MSX1, EDARADD
tube formation (GO:0035148) -4.980.003EDA, MSX1, EDARADD, EDAR
molting cycle process (GO:0022404) -5.540.001EDA, HOXC13, EDAR, EDARADD
tube lumen cavitation (GO:0060605) -8.120.001EDA, EDAR
regulation of transcription factor import into nucleus (GO:0042990) -5.160.036EDA, EDAR, EDARADD
tissue development (GO:0009888) -3.270.0EDA, EDAR, GJB6, EDARADD, MSX1, KRT85, HOXC13
trachea gland development (GO:0061153) NEW9.040.0EDA, EDAR, EDARADD
epidermis development (GO:0008544) -5.040.0EDA, HOXC13, KRT85, EDAR, EDARADD
positive regulation of transcription factor import into nucleus (GO:0042993) -5.780.004EDA, EDAR, EDARADD
salivary gland cavitation (GO:0060662) -8.120.001EDA, EDAR
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.118EDA, EDAR, GJB6, EDARADD, MSX1, KRT74, KRT85, HOXC13
intracellular part (GO:0044424) 0.287EDA, GJB6, EDARADD, MSX1, KRT74, KRT85, HOXC13
intracellular organelle part (GO:0044446) 0.814KRT74, EDA, KRT85, MSX1
membrane-bounded organelle (GO:0043227) 0.474EDA, KRT74, HOXC13, MSX1
organelle (GO:0043226) 0.44EDA, KRT74, HOXC13, MSX1
organelle part (GO:0044422) 0.794KRT74, EDA, KRT85, MSX1
cytoplasm (GO:0005737) 1.013KRT74, MSX1, EDARADD
protein complex (GO:0043234) 1.513EDA, GJB6, EDARADD
macromolecular complex (GO:0032991) 1.353EDA, GJB6, EDARADD
intracellular membrane-bounded organelle (GO:0043231) 0.63EDA, HOXC13, MSX1
integral component of membrane (GO:0016021) 1.143EDA, GJB6, EDAR
membrane (GO:0016020) 0.683EDA, GJB6, EDAR
cytoplasmic part (GO:0044444) 0.823EDA, GJB6, EDARADD
intracellular organelle (GO:0043229) 0.513EDA, HOXC13, MSX1
plasma membrane (GO:0005886) 1.393EDA, GJB6, EDAR
membrane part (GO:0044425) 0.953EDA, GJB6, EDAR
intrinsic component of membrane (GO:0031224) 1.133EDA, GJB6, EDAR
apical part of cell (GO:0045177) 5.342EDA, EDAR
supramolecular fiber (GO:0099512) 3.312KRT74, KRT85
polymeric cytoskeletal fiber (GO:0099513) 3.312KRT74, KRT85
nucleus (GO:0005634) 1.072HOXC13, MSX1
keratin filament (GO:0045095) 5.212KRT74, KRT85
extracellular region part (GO:0044421) 1.572KRT74, KRT85
cytoskeletal part (GO:0044430) 2.492KRT74, KRT85
plasma membrane part (GO:0044459) 1.952EDA, GJB6
cytosol (GO:0005829) 1.682GJB6, EDARADD
intermediate filament (GO:0005882) 4.482KRT74, KRT85

NET-GE enrichment

Term New enriched termICP valueGenes
apical part of cell (GO:0045177) -5.340.025EDA, EDAR, EDARADD
keratin filament (GO:0045095) -5.210.033KRT74, KRT85