Disease table of AORTIC VALVE DISEASE OMIM ID: PS109730

Gene-disease associations table

GeneAssociated with AORTIC VALVE DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GATA5ClinVarHGNC link20q13.331PS109730
COL5A1ClinVarHGNC link9q34.33154700, 130000, PS109730
SMAD6ClinVar, OMIM, HUMSAVARHGNC link15q22.311PS109730
NOTCH1ClinVar, OMIMHGNC link9q34.36PS109730, 130020, 154700, 234750, 140500, PS100300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
9q34.32NOTCH1, COL5A1
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
9q342NOTCH1, COL5A1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
9q32NOTCH1, COL5A1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
9q2NOTCH1, COL5A1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
92NOTCH1, COL5A1
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
GATA5YES1SLC5A10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
GATA5YES1USF10
SMAD6YES1CREB10
NOTCH1YES1SIRT10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SMAD6NOTCH1No7WWP1, USP15, USP11, NEDD4L, TGFBR1, ITCH, TAB1

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
SMAD6NOTCH1No-7SMURF1, WWP1, RUNX2, BMP4, TGFBR1, UBC, CTBP1

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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Signaling pathways regulating pluripotency of stem cells (hsa04550) NEW5.60.017NOTCH1, GATA5, SMAD6
Proteoglycans in cancer (hsa05205) NEW5.020.046NOTCH1, GATA5, SMAD6
MicroRNAs in cancer (hsa05206) NEW5.380.018NOTCH1, GATA5, SMAD6
Digestive systemNEW4.120.015COL5A1, GATA5, NOTCH1, SMAD6
Dorso-ventral axis formation (hsa04320) NEW8.010.015NOTCH1, GATA5
Wnt signaling pathway (hsa04310) NEW5.490.016NOTCH1, GATA5, SMAD6
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.783COL5A1, NOTCH1, SMAD6
Developmental BiologyR-HSA-12667383.482COL5A1, NOTCH1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.44COL5A1, GATA5, NOTCH1, SMAD6
ion binding (GO:0043167) 1.364COL5A1, GATA5, NOTCH1, SMAD6
macromolecular complex binding (GO:0044877) 2.614COL5A1, GATA5, NOTCH1, SMAD6
binding (GO:0005488) 0.184COL5A1, GATA5, NOTCH1, SMAD6
protein binding (GO:0005515) 0.464COL5A1, GATA5, NOTCH1, SMAD6
metal ion binding (GO:0046872) 1.414COL5A1, GATA5, NOTCH1, SMAD6
sequence-specific DNA binding (GO:0043565) 2.793NOTCH1, GATA5, SMAD6
transcription regulatory region DNA binding (GO:0044212) 3.033NOTCH1, GATA5, SMAD6
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.653NOTCH1, GATA5, SMAD6
organic cyclic compound binding (GO:0097159) 1.053NOTCH1, GATA5, SMAD6
regulatory region DNA binding (GO:0000975) 3.033NOTCH1, GATA5, SMAD6
regulatory region nucleic acid binding (GO:0001067) 3.033NOTCH1, GATA5, SMAD6
nucleic acid binding transcription factor activity (GO:0001071) 2.653NOTCH1, GATA5, SMAD6
nucleic acid binding (GO:0003676) 1.443NOTCH1, GATA5, SMAD6
DNA binding (GO:0003677) 1.923NOTCH1, GATA5, SMAD6
receptor binding (GO:0005102) 2.433COL5A1, NOTCH1, SMAD6
chromatin binding (GO:0003682) 3.643NOTCH1, GATA5, SMAD6
heterocyclic compound binding (GO:1901363) 1.063NOTCH1, GATA5, SMAD6
sequence-specific double-stranded DNA binding (GO:1990837) 3.22GATA5, SMAD6
RNA polymerase II regulatory region DNA binding (GO:0001012) 3.362GATA5, SMAD6
enzyme binding (GO:0019899) 2.272NOTCH1, SMAD6
transcription regulatory region sequence-specific DNA binding (GO:0000976) 3.242GATA5, SMAD6
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) 3.372GATA5, SMAD6
double-stranded DNA binding (GO:0003690) 3.092GATA5, SMAD6

NET-GE enrichment

Term New enriched termICP valueGenes
transcription regulatory region DNA binding (GO:0044212) -3.030.005NOTCH1, GATA5, SMAD6
regulatory region nucleic acid binding (GO:0001067) -3.030.006NOTCH1, GATA5, SMAD6
regulatory region DNA binding (GO:0000975) -3.030.006NOTCH1, GATA5, SMAD6
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364COL5A1, GATA5, NOTCH1, SMAD6
organic substance biosynthetic process (GO:1901576) 1.344COL5A1, GATA5, NOTCH1, SMAD6
multicellular organismal process (GO:0032501) 1.454COL5A1, GATA5, NOTCH1, SMAD6
single-multicellular organism process (GO:0044707) 1.784COL5A1, GATA5, NOTCH1, SMAD6
anatomical structure development (GO:0048856) 1.584COL5A1, GATA5, NOTCH1, SMAD6
regulation of cellular process (GO:0050794) 0.54COL5A1, GATA5, NOTCH1, SMAD6
single-organism developmental process (GO:0044767) 1.494COL5A1, GATA5, NOTCH1, SMAD6
organic substance metabolic process (GO:0071704) 0.634COL5A1, GATA5, NOTCH1, SMAD6
biosynthetic process (GO:0009058) 1.324COL5A1, GATA5, NOTCH1, SMAD6
macromolecule biosynthetic process (GO:0009059) 1.614COL5A1, GATA5, NOTCH1, SMAD6
single-organism cellular process (GO:0044763) 0.654COL5A1, GATA5, NOTCH1, SMAD6
metabolic process (GO:0008152) 0.584COL5A1, GATA5, NOTCH1, SMAD6
biological regulation (GO:0065007) 0.394COL5A1, GATA5, NOTCH1, SMAD6
cellular process (GO:0009987) 0.264COL5A1, GATA5, NOTCH1, SMAD6
macromolecule metabolic process (GO:0043170) 0.834COL5A1, GATA5, NOTCH1, SMAD6
regulation of biological process (GO:0050789) 0.454COL5A1, GATA5, NOTCH1, SMAD6
single-organism process (GO:0044699) 0.484COL5A1, GATA5, NOTCH1, SMAD6
RNA biosynthetic process (GO:0032774) 1.843NOTCH1, GATA5, SMAD6
regulation of metabolic process (GO:0019222) 1.023NOTCH1, GATA5, SMAD6
regulation of cellular biosynthetic process (GO:0031326) 1.383NOTCH1, GATA5, SMAD6
cell differentiation (GO:0030154) 2.143NOTCH1, GATA5, SMAD6
regulation of cellular metabolic process (GO:0031323) 1.073NOTCH1, GATA5, SMAD6
regulation of cellular component organization (GO:0051128) 2.013COL5A1, NOTCH1, SMAD6
nucleic acid metabolic process (GO:0090304) 1.463NOTCH1, GATA5, SMAD6
cellular biosynthetic process (GO:0044249) 1.373NOTCH1, GATA5, SMAD6
cellular nitrogen compound metabolic process (GO:0034641) 1.223NOTCH1, GATA5, SMAD6
nitrogen compound metabolic process (GO:0006807) 1.133NOTCH1, GATA5, SMAD6
cellular macromolecule biosynthetic process (GO:0034645) 1.663NOTCH1, GATA5, SMAD6
anatomical structure morphogenesis (GO:0009653) 2.533COL5A1, GATA5, NOTCH1
organic cyclic compound biosynthetic process (GO:1901362) 1.663NOTCH1, GATA5, SMAD6
nucleic acid-templated transcription (GO:0097659) 1.913NOTCH1, GATA5, SMAD6
regulation of primary metabolic process (GO:0080090) 1.083NOTCH1, GATA5, SMAD6
nucleobase-containing compound metabolic process (GO:0006139) 1.353NOTCH1, GATA5, SMAD6
cellular macromolecule metabolic process (GO:0044260) 0.933NOTCH1, GATA5, SMAD6
cellular developmental process (GO:0048869) 1.823NOTCH1, GATA5, SMAD6
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463NOTCH1, GATA5, SMAD6
regulation of macromolecule metabolic process (GO:0060255) 1.083NOTCH1, GATA5, SMAD6
animal organ development (GO:0048513) 2.533COL5A1, GATA5, NOTCH1
organic cyclic compound metabolic process (GO:1901360) 1.263NOTCH1, GATA5, SMAD6
negative regulation of biological process (GO:0048519) 1.333COL5A1, NOTCH1, SMAD6
regulation of gene expression (GO:0010468) 1.373NOTCH1, GATA5, SMAD6
heterocycle biosynthetic process (GO:0018130) 1.73NOTCH1, GATA5, SMAD6
regulation of macromolecule biosynthetic process (GO:0010556) 1.433NOTCH1, GATA5, SMAD6
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433NOTCH1, GATA5, SMAD6
cellular aromatic compound metabolic process (GO:0006725) 1.33NOTCH1, GATA5, SMAD6
regulation of biosynthetic process (GO:0009889) 1.373NOTCH1, GATA5, SMAD6
tissue development (GO:0009888) 3.273COL5A1, NOTCH1, SMAD6
regulation of nucleic acid-templated transcription (GO:1903506) 1.553NOTCH1, GATA5, SMAD6
regulation of nitrogen compound metabolic process (GO:0051171) 1.363NOTCH1, GATA5, SMAD6
regulation of RNA biosynthetic process (GO:2001141) 1.553NOTCH1, GATA5, SMAD6
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723NOTCH1, GATA5, SMAD6
heterocycle metabolic process (GO:0046483) 1.313NOTCH1, GATA5, SMAD6
RNA metabolic process (GO:0016070) 1.593NOTCH1, GATA5, SMAD6
primary metabolic process (GO:0044238) 0.693NOTCH1, GATA5, SMAD6
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593NOTCH1, GATA5, SMAD6
response to stimulus (GO:0050896) 1.223NOTCH1, GATA5, SMAD6
regulation of RNA metabolic process (GO:0051252) 1.523NOTCH1, GATA5, SMAD6
cellular metabolic process (GO:0044237) 0.693NOTCH1, GATA5, SMAD6
regulation of transcription, DNA-templated (GO:0006355) 1.563NOTCH1, GATA5, SMAD6
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243NOTCH1, GATA5, SMAD6
transcription, DNA-templated (GO:0006351) 1.913NOTCH1, GATA5, SMAD6
aromatic compound biosynthetic process (GO:0019438) 1.73NOTCH1, GATA5, SMAD6
negative regulation of cellular process (GO:0048523) 1.413COL5A1, NOTCH1, SMAD6
negative regulation of response to stimulus (GO:0048585) 2.522NOTCH1, SMAD6
regulation of response to stimulus (GO:0048583) 1.542NOTCH1, SMAD6
signal transduction (GO:0007165) 1.282NOTCH1, SMAD6
cell surface receptor signaling pathway (GO:0007166) 2.092NOTCH1, SMAD6
cellular component organization or biogenesis (GO:0071840) 1.222COL5A1, NOTCH1
cellular response to stimulus (GO:0051716) 1.972NOTCH1, GATA5
negative regulation of macromolecule metabolic process (GO:0010605) 2.012NOTCH1, SMAD6
positive regulation of macromolecule metabolic process (GO:0010604) 1.812NOTCH1, GATA5
negative regulation of signal transduction (GO:0009968) 2.752NOTCH1, SMAD6
regulation of signal transduction (GO:0009966) 1.842NOTCH1, SMAD6
response to growth factor (GO:0070848) 4.142NOTCH1, GATA5
epithelial cell differentiation (GO:0030855) 3.982NOTCH1, GATA5
positive regulation of biological process (GO:0048518) 1.22NOTCH1, GATA5
columnar/cuboidal epithelial cell differentiation (GO:0002065) 5.842NOTCH1, GATA5
regulation of cell proliferation (GO:0042127) 2.412NOTCH1, SMAD6
negative regulation of cell death (GO:0060548) 2.952NOTCH1, SMAD6
regulation of embryonic development (GO:0045995) 4.982COL5A1, NOTCH1
negative regulation of BMP signaling pathway (GO:0030514) 5.972NOTCH1, SMAD6
response to organic substance (GO:0010033) 2.22NOTCH1, GATA5
regulation of BMP signaling pathway (GO:0030510) 5.362NOTCH1, SMAD6
cell motility (GO:0048870) 3.022COL5A1, NOTCH1
immune system process (GO:0002376) 2.292NOTCH1, SMAD6
negative regulation of metabolic process (GO:0009892) 1.932NOTCH1, SMAD6
positive regulation of metabolic process (GO:0009893) 1.742NOTCH1, GATA5
positive regulation of biosynthetic process (GO:0009891) 2.292NOTCH1, GATA5
movement of cell or subcellular component (GO:0006928) 2.612COL5A1, NOTCH1
positive regulation of gene expression (GO:0010628) 2.352NOTCH1, GATA5
regulation of apoptotic process (GO:0042981) 2.52NOTCH1, SMAD6
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101) 5.12NOTCH1, SMAD6
blood vessel development (GO:0001568) 4.952COL5A1, SMAD6
cellular component organization (GO:0016043) 1.242COL5A1, NOTCH1
transcription from RNA polymerase II promoter (GO:0006366) 3.382NOTCH1, GATA5
cell migration (GO:0016477) 3.122COL5A1, NOTCH1
regulation of anatomical structure morphogenesis (GO:0022603) 2.792COL5A1, NOTCH1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012NOTCH1, GATA5
organ morphogenesis (GO:0009887) 3.552COL5A1, GATA5
regulation of developmental process (GO:0050793) 2.12COL5A1, NOTCH1
cell development (GO:0048468) 3.282NOTCH1, GATA5
cellular response to organic substance (GO:0071310) 2.782NOTCH1, GATA5
response to stress (GO:0006950) 1.82NOTCH1, SMAD6
regulation of multicellular organismal process (GO:0051239) 1.872COL5A1, NOTCH1
immune response (GO:0006955) 2.862NOTCH1, SMAD6
cell fate commitment (GO:0045165) 4.722NOTCH1, GATA5
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392NOTCH1, GATA5
negative regulation of signaling (GO:0023057) 2.652NOTCH1, SMAD6
negative regulation of cell communication (GO:0010648) 2.662NOTCH1, SMAD6
cellular response to chemical stimulus (GO:0070887) 2.572NOTCH1, GATA5
regulation of signaling (GO:0023051) 1.722NOTCH1, SMAD6
axis specification (GO:0009798) 5.422NOTCH1, SMAD6
regulation of cell communication (GO:0010646) 1.732NOTCH1, SMAD6
response to endogenous stimulus (GO:0009719) 2.792NOTCH1, GATA5
regulation of cellular response to growth factor stimulus (GO:0090287) 4.292NOTCH1, SMAD6
negative regulation of multicellular organismal process (GO:0051241) 2.842COL5A1, NOTCH1
negative regulation of cellular response to growth factor stimulus (GO:0090288) 4.922NOTCH1, SMAD6
biological adhesion (GO:0022610) 2.812COL5A1, SMAD6
cellular response to endogenous stimulus (GO:0071495) 3.332NOTCH1, GATA5
negative regulation of cell proliferation (GO:0008285) 3.262NOTCH1, SMAD6
epithelium development (GO:0060429) 4.572NOTCH1, SMAD6
negative regulation of cell differentiation (GO:0045596) 3.332COL5A1, NOTCH1
regulation of cell differentiation (GO:0045595) 2.422COL5A1, NOTCH1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562NOTCH1, GATA5
negative regulation of developmental process (GO:0051093) 3.172COL5A1, NOTCH1
cellular response to growth factor stimulus (GO:0071363) 4.272NOTCH1, GATA5
positive regulation of RNA metabolic process (GO:0051254) 2.512NOTCH1, GATA5
positive regulation of RNA biosynthetic process (GO:1902680) 2.542NOTCH1, GATA5
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812NOTCH1, GATA5
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562NOTCH1, GATA5
positive regulation of cellular biosynthetic process (GO:0031328) 2.32NOTCH1, GATA5
positive regulation of cellular metabolic process (GO:0031325) 1.812NOTCH1, GATA5
negative regulation of cellular metabolic process (GO:0031324) 2.012NOTCH1, SMAD6
regulation of cell death (GO:0010941) 2.432NOTCH1, SMAD6
kidney epithelium development (GO:0072073) 5.542NOTCH1, SMAD6
pattern specification process (GO:0007389) 3.792NOTCH1, SMAD6
regulation of programmed cell death (GO:0043067) 2.492NOTCH1, SMAD6
negative regulation of apoptotic process (GO:0043066) 3.042NOTCH1, SMAD6
negative regulation of programmed cell death (GO:0043069) 3.022NOTCH1, SMAD6
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092) 4.392NOTCH1, SMAD6
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352NOTCH1, GATA5
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292NOTCH1, GATA5
cell adhesion (GO:0007155) 2.822COL5A1, SMAD6
response to chemical (GO:0042221) 1.982NOTCH1, GATA5
tube development (GO:0035295) 4.412NOTCH1, SMAD6
locomotion (GO:0040011) 2.912COL5A1, NOTCH1
heart development (GO:0007507) 4.242NOTCH1, GATA5
regulation of cellular component biogenesis (GO:0044087) 3.082NOTCH1, SMAD6
regulation of multicellular organismal development (GO:2000026) 2.312COL5A1, NOTCH1
positive regulation of cellular process (GO:0048522) 1.32NOTCH1, GATA5

NET-GE enrichment

Term New enriched termICP valueGenes
blood vessel development (GO:0001568) -4.950.03COL5A1, GATA5, NOTCH1
hematopoietic progenitor cell differentiation (GO:0002244) NEW5.230.035COL5A1, GATA5, NOTCH1
skeletal system development (GO:0001501) NEW4.490.002COL5A1, GATA5, NOTCH1, SMAD6
regulation of osteoblast differentiation (GO:0045667) NEW4.990.028NOTCH1, GATA5, SMAD6
atrioventricular valve morphogenesis (GO:0003181) NEW7.240.009NOTCH1, GATA5
negative regulation of BMP signaling pathway (GO:0030514) -5.970.016NOTCH1, SMAD6
kidney epithelium development (GO:0072073) -5.540.039NOTCH1, SMAD6
columnar/cuboidal epithelial cell differentiation (GO:0002065) -5.840.029NOTCH1, GATA5
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.514COL5A1, GATA5, NOTCH1, SMAD6
macromolecular complex (GO:0032991) 1.354COL5A1, GATA5, NOTCH1, SMAD6
cell part (GO:0044464) 0.114COL5A1, GATA5, NOTCH1, SMAD6
intracellular part (GO:0044424) 0.284COL5A1, GATA5, NOTCH1, SMAD6
membrane-bounded organelle (GO:0043227) 0.474COL5A1, GATA5, NOTCH1, SMAD6
organelle (GO:0043226) 0.44COL5A1, GATA5, NOTCH1, SMAD6
intracellular membrane-bounded organelle (GO:0043231) 0.63NOTCH1, GATA5, SMAD6
nucleus (GO:0005634) 1.073NOTCH1, GATA5, SMAD6
intracellular organelle (GO:0043229) 0.513NOTCH1, GATA5, SMAD6
intracellular organelle part (GO:0044446) 0.813COL5A1, GATA5, NOTCH1
cytoplasmic part (GO:0044444) 0.823COL5A1, NOTCH1, SMAD6
organelle part (GO:0044422) 0.793COL5A1, GATA5, NOTCH1
cytoplasm (GO:0005737) 1.012NOTCH1, SMAD6
vesicle (GO:0031982) 1.642COL5A1, NOTCH1
cytosol (GO:0005829) 1.682NOTCH1, SMAD6
membrane (GO:0016020) 0.682NOTCH1, SMAD6
membrane-bounded vesicle (GO:0031988) 1.712COL5A1, NOTCH1
nucleoplasm (GO:0005654) 1.892NOTCH1, GATA5
endoplasmic reticulum part (GO:0044432) 2.732COL5A1, NOTCH1
extracellular region (GO:0005576) 2.182COL5A1, NOTCH1
nuclear part (GO:0044428) 1.552NOTCH1, GATA5
transcription factor complex (GO:0005667) 4.12GATA5, SMAD6
membrane part (GO:0044425) 0.952NOTCH1, SMAD6
integral component of membrane (GO:0016021) 1.142NOTCH1, SMAD6
intrinsic component of membrane (GO:0031224) 1.132NOTCH1, SMAD6

NET-GE enrichment

Term New enriched termICP valueGenes
organelle lumen (GO:0043233) NEW3.050.017COL5A1, GATA5, NOTCH1, SMAD6
membrane-enclosed lumen (GO:0031974) NEW3.050.023COL5A1, GATA5, NOTCH1, SMAD6
chromatin (GO:0000785) NEW3.990.031NOTCH1, GATA5, SMAD6
transcription factor complex (GO:0005667) -4.10.043NOTCH1, GATA5, SMAD6