Disease table of GLAUCOMA 3, PRIMARY CONGENITAL, A OMIM ID: 231300

Gene-disease associations table

GeneAssociated with GLAUCOMA 3, PRIMARY CONGENITAL, A inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MYOCHUMSAVARHGNC link1q24.32231300, 137750
CYP1B1ClinVar, OMIM, HUMSAVARHGNC link2p22.24137760, 137750, 231300, 604229

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
CYP1B1YES4SP1, AHR, ARNT, ESR10
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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42CYP1B1, MYOC
metal ion binding (GO:0046872) 1.412CYP1B1, MYOC
binding (GO:0005488) 0.182CYP1B1, MYOC
ion binding (GO:0043167) 1.362CYP1B1, MYOC
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of primary metabolic process (GO:0080090) 1.082CYP1B1, MYOC
regulation of metabolic process (GO:0019222) 1.022CYP1B1, MYOC
regulation of anatomical structure morphogenesis (GO:0022603) 2.792CYP1B1, MYOC
regulation of cell adhesion (GO:0030155) 3.272CYP1B1, MYOC
positive regulation of response to stimulus (GO:0048584) 2.182CYP1B1, MYOC
regulation of response to stimulus (GO:0048583) 1.542CYP1B1, MYOC
positive regulation of signaling (GO:0023056) 2.412CYP1B1, MYOC
negative regulation of cell adhesion (GO:0007162) 4.332CYP1B1, MYOC
regulation of cell migration (GO:0030334) 3.232CYP1B1, MYOC
signal transduction (GO:0007165) 1.282CYP1B1, MYOC
regulation of signaling (GO:0023051) 1.722CYP1B1, MYOC
positive regulation of cell communication (GO:0010647) 2.412CYP1B1, MYOC
regulation of cell communication (GO:0010646) 1.732CYP1B1, MYOC
regulation of biological process (GO:0050789) 0.452CYP1B1, MYOC
cellular component organization or biogenesis (GO:0071840) 1.222CYP1B1, MYOC
regulation of localization (GO:0032879) 1.942CYP1B1, MYOC
regulation of signal transduction (GO:0009966) 1.842CYP1B1, MYOC
positive regulation of signal transduction (GO:0009967) 2.52CYP1B1, MYOC
cellular component organization (GO:0016043) 1.242CYP1B1, MYOC
regulation of macromolecule metabolic process (GO:0060255) 1.082CYP1B1, MYOC
biological regulation (GO:0065007) 0.392CYP1B1, MYOC
single-organism process (GO:0044699) 0.482CYP1B1, MYOC
positive regulation of biological process (GO:0048518) 1.22CYP1B1, MYOC
negative regulation of biological process (GO:0048519) 1.332CYP1B1, MYOC
regulation of biological quality (GO:0065008) 1.682CYP1B1, MYOC
developmental process (GO:0032502) 1.362CYP1B1, MYOC
multicellular organismal process (GO:0032501) 1.452CYP1B1, MYOC
regulation of developmental process (GO:0050793) 2.12CYP1B1, MYOC
regulation of cellular metabolic process (GO:0031323) 1.072CYP1B1, MYOC
cellular process (GO:0009987) 0.262CYP1B1, MYOC
regulation of cellular process (GO:0050794) 0.52CYP1B1, MYOC
single-organism developmental process (GO:0044767) 1.492CYP1B1, MYOC
regulation of cellular component movement (GO:0051270) 3.082CYP1B1, MYOC
single-organism cellular process (GO:0044763) 0.652CYP1B1, MYOC
positive regulation of intracellular signal transduction (GO:1902533) 2.952CYP1B1, MYOC
regulation of intracellular signal transduction (GO:1902531) 2.312CYP1B1, MYOC
system process (GO:0003008) 2.32CYP1B1, MYOC
regulation of locomotion (GO:0040012) 3.122CYP1B1, MYOC
positive regulation of developmental process (GO:0051094) 2.772CYP1B1, MYOC
response to stimulus (GO:0050896) 1.222CYP1B1, MYOC
anatomical structure development (GO:0048856) 1.582CYP1B1, MYOC
regulation of cell motility (GO:2000145) 3.162CYP1B1, MYOC
negative regulation of cellular process (GO:0048523) 1.412CYP1B1, MYOC
positive regulation of cellular process (GO:0048522) 1.32CYP1B1, MYOC

NET-GE enrichment

Term New enriched termICP valueGenes
collagen fibril organization (GO:0030199) NEW6.070.014CYP1B1, MYOC
unsaturated fatty acid biosynthetic process (GO:0006636) NEW5.880.016CYP1B1, MYOC
fatty acid derivative biosynthetic process (GO:1901570) NEW9.040.009CYP1B1, MYOC
icosanoid biosynthetic process (GO:0046456) NEW6.090.009CYP1B1, MYOC
negative regulation of cell adhesion (GO:0007162) -4.330.012CYP1B1, MYOC
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum (GO:0005783) 2.562CYP1B1, MYOC
membrane (GO:0016020) 0.682CYP1B1, MYOC
cell part (GO:0044464) 0.112CYP1B1, MYOC
cytoplasmic part (GO:0044444) 0.822CYP1B1, MYOC
mitochondrion (GO:0005739) 2.422CYP1B1, MYOC
intracellular membrane-bounded organelle (GO:0043231) 0.62CYP1B1, MYOC
intracellular organelle part (GO:0044446) 0.812CYP1B1, MYOC
intracellular organelle (GO:0043229) 0.512CYP1B1, MYOC
intracellular part (GO:0044424) 0.282CYP1B1, MYOC
membrane-bounded organelle (GO:0043227) 0.472CYP1B1, MYOC
organelle (GO:0043226) 0.42CYP1B1, MYOC
organelle part (GO:0044422) 0.792CYP1B1, MYOC
organelle membrane (GO:0031090) 1.972CYP1B1, MYOC