Disease table of BLUE CONE MONOCHROMACY OMIM ID: 303700

Gene-disease associations table

GeneAssociated with BLUE CONE MONOCHROMACY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
OPN1MWClinVar, OMIM, HUMSAVARHGNC linkXq282303800, 303700
OPN1LWClinVar, OMIM, HUMSAVARHGNC linkXq282303900, 303700

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
Xq282OPN1LW, OPN1MW
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
Xq282OPN1LW, OPN1MW
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
Xq22OPN1LW, OPN1MW
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
Xq2OPN1LW, OPN1MW
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X2OPN1LW, OPN1MW
Transcription Factors (TF) annotation from TRRUST
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 (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
DiseaseR-HSA-16436853.332OPN1MW, OPN1LW
Diseases associated with visual transductionR-HSA-24747959.282OPN1MW, OPN1LW
Visual phototransductionR-HSA-21873386.442OPN1MW, OPN1LW
Signaling by GPCRR-HSA-3727902.682OPN1MW, OPN1LW
Diseases of signal transductionR-HSA-56632024.892OPN1MW, OPN1LW
The retinoid cycle in cones (daylight vision)R-HSA-218733510.42OPN1MW, OPN1LW
G alpha (i) signalling eventsR-HSA-4185945.12OPN1MW, OPN1LW
Class A/1 (Rhodopsin-like receptors)R-HSA-3730764.692OPN1MW, OPN1LW
OpsinsR-HSA-4197719.812OPN1MW, OPN1LW
Signal TransductionR-HSA-1625821.782OPN1MW, OPN1LW
GPCR downstream signalingR-HSA-3883963.072OPN1MW, OPN1LW
GPCR ligand bindingR-HSA-5007924.192OPN1MW, OPN1LW
Retinoid cycle disease eventsR-HSA-24538649.282OPN1MW, OPN1LW
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
G-protein coupled photoreceptor activity (GO:0008020) 7.342OPN1MW, OPN1LW
G-protein coupled receptor activity (GO:0004930) 2.952OPN1MW, OPN1LW
signaling receptor activity (GO:0038023) 2.492OPN1MW, OPN1LW
molecular transducer activity (GO:0060089) 2.322OPN1MW, OPN1LW
transmembrane signaling receptor activity (GO:0004888) 2.572OPN1MW, OPN1LW
receptor activity (GO:0004872) 2.322OPN1MW, OPN1LW
signal transducer activity (GO:0004871) 2.282OPN1MW, OPN1LW
photoreceptor activity (GO:0009881) 6.972OPN1MW, OPN1LW
transmembrane receptor activity (GO:0099600) 2.532OPN1MW, OPN1LW
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
response to abiotic stimulus (GO:0009628) 2.82OPN1MW, OPN1LW
cellular response to light stimulus (GO:0071482) 5.222OPN1MW, OPN1LW
response to radiation (GO:0009314) 3.692OPN1MW, OPN1LW
detection of light stimulus (GO:0009583) 5.672OPN1MW, OPN1LW
response to light stimulus (GO:0009416) 4.082OPN1MW, OPN1LW
signal transduction (GO:0007165) 1.282OPN1MW, OPN1LW
retinoid metabolic process (GO:0001523) 5.252OPN1MW, OPN1LW
single-organism process (GO:0044699) 0.482OPN1MW, OPN1LW
positive regulation of cell cycle process (GO:0090068) 4.252OPN1MW, OPN1LW
single-organism metabolic process (GO:0044710) 1.632OPN1MW, OPN1LW
cellular response to radiation (GO:0071478) 4.812OPN1MW, OPN1LW
positive regulation of cell cycle (GO:0045787) 3.942OPN1MW, OPN1LW
cellular macromolecule metabolic process (GO:0044260) 0.932OPN1MW, OPN1LW
regulation of cell cycle process (GO:0010564) 3.52OPN1MW, OPN1LW
regulation of cell division (GO:0051302) 4.882OPN1MW, OPN1LW
organic substance metabolic process (GO:0071704) 0.632OPN1MW, OPN1LW
biological regulation (GO:0065007) 0.392OPN1MW, OPN1LW
isoprenoid metabolic process (GO:0006720) 4.892OPN1MW, OPN1LW
regulation of cytokinesis (GO:0032465) 5.62OPN1MW, OPN1LW
diterpenoid metabolic process (GO:0016101) 5.172OPN1MW, OPN1LW
positive regulation of cytokinesis (GO:0032467) 6.172OPN1MW, OPN1LW
cellular response to abiotic stimulus (GO:0071214) 4.152OPN1MW, OPN1LW
G-protein coupled receptor signaling pathway (GO:0007186) 2.642OPN1MW, OPN1LW
detection of external stimulus (GO:0009581) 4.982OPN1MW, OPN1LW
detection of abiotic stimulus (GO:0009582) 4.962OPN1MW, OPN1LW
multicellular organismal process (GO:0032501) 1.452OPN1MW, OPN1LW
detection of visible light (GO:0009584) 6.232OPN1MW, OPN1LW
lipid metabolic process (GO:0006629) 2.682OPN1MW, OPN1LW
cellular protein metabolic process (GO:0044267) 1.632OPN1MW, OPN1LW
terpenoid metabolic process (GO:0006721) 5.072OPN1MW, OPN1LW
neurological system process (GO:0050877) 2.642OPN1MW, OPN1LW
cellular process (GO:0009987) 0.262OPN1MW, OPN1LW
visual perception (GO:0007601) 4.412OPN1MW, OPN1LW
cellular response to stimulus (GO:0051716) 1.972OPN1MW, OPN1LW
sensory perception of light stimulus (GO:0050953) 4.42OPN1MW, OPN1LW
phototransduction (GO:0007602) 5.992OPN1MW, OPN1LW
positive regulation of biological process (GO:0048518) 1.22OPN1MW, OPN1LW
macromolecule modification (GO:0043412) 1.732OPN1MW, OPN1LW
protein modification process (GO:0036211) 1.792OPN1MW, OPN1LW
single-organism cellular process (GO:0044763) 0.652OPN1MW, OPN1LW
protein-chromophore linkage (GO:0018298) 7.022OPN1MW, OPN1LW
metabolic process (GO:0008152) 0.582OPN1MW, OPN1LW
cellular lipid metabolic process (GO:0044255) 2.922OPN1MW, OPN1LW
regulation of cellular process (GO:0050794) 0.52OPN1MW, OPN1LW
system process (GO:0003008) 2.32OPN1MW, OPN1LW
primary metabolic process (GO:0044238) 0.692OPN1MW, OPN1LW
detection of stimulus (GO:0051606) 3.222OPN1MW, OPN1LW
response to external stimulus (GO:0009605) 2.552OPN1MW, OPN1LW
regulation of cell cycle (GO:0051726) 2.932OPN1MW, OPN1LW
protein metabolic process (GO:0019538) 1.452OPN1MW, OPN1LW
response to stimulus (GO:0050896) 1.222OPN1MW, OPN1LW
sensory perception (GO:0007600) 2.932OPN1MW, OPN1LW
macromolecule metabolic process (GO:0043170) 0.832OPN1MW, OPN1LW
regulation of biological process (GO:0050789) 0.452OPN1MW, OPN1LW
positive regulation of cell division (GO:0051781) 5.352OPN1MW, OPN1LW
cellular protein modification process (GO:0006464) 1.792OPN1MW, OPN1LW
cellular metabolic process (GO:0044237) 0.692OPN1MW, OPN1LW
positive regulation of cellular process (GO:0048522) 1.32OPN1MW, OPN1LW
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.972OPN1MW, OPN1LW
ciliary membrane (GO:0060170) 5.432OPN1MW, OPN1LW
cilium (GO:0005929) 3.892OPN1MW, OPN1LW
intrinsic component of plasma membrane (GO:0031226) 2.532OPN1MW, OPN1LW
organelle (GO:0043226) 0.42OPN1MW, OPN1LW
intrinsic component of membrane (GO:0031224) 1.132OPN1MW, OPN1LW
primary cilium (GO:0072372) 4.642OPN1MW, OPN1LW
organelle membrane (GO:0031090) 1.972OPN1MW, OPN1LW
photoreceptor outer segment membrane (GO:0042622) 7.092OPN1MW, OPN1LW
integral component of membrane (GO:0016021) 1.142OPN1MW, OPN1LW
membrane (GO:0016020) 0.682OPN1MW, OPN1LW
nonmotile primary cilium (GO:0031513) 5.142OPN1MW, OPN1LW
neuron part (GO:0097458) 2.642OPN1MW, OPN1LW
plasma membrane part (GO:0044459) 1.952OPN1MW, OPN1LW
bounding membrane of organelle (GO:0098588) 2.392OPN1MW, OPN1LW
cell projection membrane (GO:0031253) 4.112OPN1MW, OPN1LW
integral component of plasma membrane (GO:0005887) 2.572OPN1MW, OPN1LW
cell projection (GO:0042995) 2.472OPN1MW, OPN1LW
photoreceptor outer segment (GO:0001750) 5.782OPN1MW, OPN1LW
cell projection part (GO:0044463) 2.972OPN1MW, OPN1LW
cell part (GO:0044464) 0.112OPN1MW, OPN1LW
ciliary part (GO:0044441) 4.052OPN1MW, OPN1LW
membrane part (GO:0044425) 0.952OPN1MW, OPN1LW
organelle part (GO:0044422) 0.792OPN1MW, OPN1LW