Disease table of SUPRAVALVULAR AORTIC STENOSIS OMIM ID: 185500

Gene-disease associations table

GeneAssociated with SUPRAVALVULAR AORTIC STENOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HRASClinVarHGNC link11p15.56218040, 137550, 185500, 109800, 163200, 162900
ELNClinVar, OMIMHGNC link7q11.232123700, 185500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
HRASYES3SP1, MAZ, TP530
ELNYES1JUN0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182HRAS, ELN
protein binding (GO:0005515) 0.462HRAS, ELN

NET-GE enrichment

Term New enriched termICP valueGenes
collagen binding (GO:0005518) NEW5.580.018HRAS, ELN
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.142HRAS, ELN
regulation of organelle organization (GO:0033043) 2.722HRAS, ELN
regulation of cellular component organization (GO:0051128) 2.012HRAS, ELN
anatomical structure morphogenesis (GO:0009653) 2.532HRAS, ELN
regulation of biological process (GO:0050789) 0.452HRAS, ELN
single-organism process (GO:0044699) 0.482HRAS, ELN
cellular response to stimulus (GO:0051716) 1.972HRAS, ELN
regulation of cytoskeleton organization (GO:0051493) 3.722HRAS, ELN
cellular component organization (GO:0016043) 1.242HRAS, ELN
biological regulation (GO:0065007) 0.392HRAS, ELN
cellular component organization or biogenesis (GO:0071840) 1.222HRAS, ELN
regulation of biological quality (GO:0065008) 1.682HRAS, ELN
developmental process (GO:0032502) 1.362HRAS, ELN
organ morphogenesis (GO:0009887) 3.552HRAS, ELN
cellular process (GO:0009987) 0.262HRAS, ELN
cell proliferation (GO:0008283) 3.232HRAS, ELN
regulation of actin filament-based process (GO:0032970) 3.972HRAS, ELN
regulation of cellular process (GO:0050794) 0.52HRAS, ELN
single-organism developmental process (GO:0044767) 1.492HRAS, ELN
response to stress (GO:0006950) 1.82HRAS, ELN
single-organism cellular process (GO:0044763) 0.652HRAS, ELN
regulation of actin cytoskeleton organization (GO:0032956) 4.092HRAS, ELN
aging (GO:0007568) 4.162HRAS, ELN
response to stimulus (GO:0050896) 1.222HRAS, ELN
regulation of cellular component biogenesis (GO:0044087) 3.082HRAS, ELN
cellular response to stress (GO:0033554) 2.512HRAS, ELN

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of neurological system process (GO:0031644) NEW5.520.049HRAS, ELN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62HRAS, ELN
cell part (GO:0044464) 0.112HRAS, ELN
cytoplasmic part (GO:0044444) 0.822HRAS, ELN
intracellular organelle (GO:0043229) 0.512HRAS, ELN
intracellular part (GO:0044424) 0.282HRAS, ELN
membrane-bounded organelle (GO:0043227) 0.472HRAS, ELN
organelle (GO:0043226) 0.42HRAS, ELN

NET-GE enrichment

Term New enriched termICP valueGenes
neuron spine (GO:0044309) NEW5.040.03HRAS, ELN
dendritic spine (GO:0043197) NEW5.060.028HRAS, ELN