Disease table of BLUE CONE MONOCHROMACY OMIM ID: 303700

Gene-disease associations table

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Gene	Associated with BLUE CONE MONOCHROMACY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
OPN1LW	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq28	2	303900, 303700
OPN1MW	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq28	2	303800, 303700

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
Xq28	2	OPN1LW, OPN1MW

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
Xq28	2	OPN1LW, OPN1MW

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
Xq2	2	OPN1LW, OPN1MW

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
Xq	2	OPN1LW, OPN1MW

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
X	2	OPN1LW, 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

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
The retinoid cycle in cones (daylight vision)	R-HSA-2187335	10.4	2	OPN1MW, OPN1LW
Opsins	R-HSA-419771	9.81	2	OPN1MW, OPN1LW
Diseases associated with visual transduction	R-HSA-2474795	9.28	2	OPN1MW, OPN1LW
Retinoid cycle disease events	R-HSA-2453864	9.28	2	OPN1MW, OPN1LW
Visual phototransduction	R-HSA-2187338	6.44	2	OPN1MW, OPN1LW
G alpha (i) signalling events	R-HSA-418594	5.1	2	OPN1MW, OPN1LW
Diseases of signal transduction	R-HSA-5663202	4.89	2	OPN1MW, OPN1LW
Class A/1 (Rhodopsin-like receptors)	R-HSA-373076	4.69	2	OPN1MW, OPN1LW
GPCR ligand binding	R-HSA-500792	4.19	2	OPN1MW, OPN1LW
Disease	R-HSA-1643685	3.33	2	OPN1MW, OPN1LW

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GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
G-protein coupled photoreceptor activity (GO:0008020)	7.34	2	OPN1MW, OPN1LW
photoreceptor activity (GO:0009881)	6.97	2	OPN1MW, OPN1LW
G-protein coupled receptor activity (GO:0004930)	2.95	2	OPN1MW, OPN1LW
transmembrane signaling receptor activity (GO:0004888)	2.57	2	OPN1MW, OPN1LW
transmembrane receptor activity (GO:0099600)	2.53	2	OPN1MW, OPN1LW
signaling receptor activity (GO:0038023)	2.49	2	OPN1MW, OPN1LW
molecular transducer activity (GO:0060089)	2.32	2	OPN1MW, OPN1LW
receptor activity (GO:0004872)	2.32	2	OPN1MW, OPN1LW
signal transducer activity (GO:0004871)	2.28	2	OPN1MW, OPN1LW

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GO - biological process annotation: shared terms (no NET-GE enrichment)

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GO	IC	Number of genes with the same GO	Genes
protein-chromophore linkage (GO:0018298)	7.02	2	OPN1MW, OPN1LW
detection of visible light (GO:0009584)	6.23	2	OPN1MW, OPN1LW
positive regulation of cytokinesis (GO:0032467)	6.17	2	OPN1MW, OPN1LW
phototransduction (GO:0007602)	5.99	2	OPN1MW, OPN1LW
detection of light stimulus (GO:0009583)	5.67	2	OPN1MW, OPN1LW
regulation of cytokinesis (GO:0032465)	5.6	2	OPN1MW, OPN1LW
positive regulation of cell division (GO:0051781)	5.35	2	OPN1MW, OPN1LW
retinoid metabolic process (GO:0001523)	5.25	2	OPN1MW, OPN1LW
cellular response to light stimulus (GO:0071482)	5.22	2	OPN1MW, OPN1LW
diterpenoid metabolic process (GO:0016101)	5.17	2	OPN1MW, OPN1LW

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GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
photoreceptor outer segment membrane (GO:0042622)	7.09	2	OPN1MW, OPN1LW
photoreceptor outer segment (GO:0001750)	5.78	2	OPN1MW, OPN1LW
ciliary membrane (GO:0060170)	5.43	2	OPN1MW, OPN1LW
nonmotile primary cilium (GO:0031513)	5.14	2	OPN1MW, OPN1LW
primary cilium (GO:0072372)	4.64	2	OPN1MW, OPN1LW
cell projection membrane (GO:0031253)	4.11	2	OPN1MW, OPN1LW
ciliary part (GO:0044441)	4.05	2	OPN1MW, OPN1LW
cilium (GO:0005929)	3.89	2	OPN1MW, OPN1LW
plasma membrane region (GO:0098590)	2.97	2	OPN1MW, OPN1LW
cell projection part (GO:0044463)	2.97	2	OPN1MW, OPN1LW

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