Disease table of FUNDUS ALBIPUNCTATUS OMIM ID: 136880

Gene-disease associations table

Gene	Associated with FUNDUS ALBIPUNCTATUS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
RLBP1	ClinVar, OMIM, HUMSAVAR	HGNC link	15q26.1	3	607475, 136880, 607476
PRPH2	OMIM	HGNC link	6p21.1	6	PS204000, PS268000, PS169150, PS215500, 136880, PS153840
RDH5	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.2	1	136880
RHO	OMIM	HGNC link	3q22.1	3	PS310500, 136880, PS268000

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 gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
RHO	YES	5	NRL, CRX, NR2E3, KLF15, SOX2	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
RLBP1	RDH5	Yes	0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
RLBP1	RDH5	Yes	binding	0
RLBP1	RHO	No	-	1	OPN1SW

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: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Signal Transduction	R-HSA-162582	1.78	3	RLBP1, RHO, RDH5
Visual phototransduction	R-HSA-2187338	6.44	3	RLBP1, RHO, RDH5
The canonical retinoid cycle in rods (twilight vision)	R-HSA-2453902	8.52	3	RLBP1, RHO, RDH5
Retinoid cycle disease events	R-HSA-2453864	9.28	2	RLBP1, RDH5
Diseases associated with visual transduction	R-HSA-2474795	9.28	2	RLBP1, RDH5
Disease	R-HSA-1643685	3.33	2	RLBP1, RDH5
Diseases of signal transduction	R-HSA-5663202	4.89	2	RLBP1, RDH5

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Diseases associated with visual transduction (R-HSA-2474795)	-	9.28	0.0	RLBP1, RDH5
Visual phototransduction (R-HSA-2187338)	-	6.44	0.001	RLBP1, RHO, RDH5
Diseases of signal transduction (R-HSA-5663202)	-	4.89	0.012	RLBP1, RHO, RDH5
The retinoid cycle in cones (daylight vision) (R-HSA-2187335)	NEW	10.4	0.0	RLBP1, RHO
Retinoid cycle disease events (R-HSA-2453864)	-	9.28	0.0	RLBP1, RDH5
The canonical retinoid cycle in rods (twilight vision) (R-HSA-2453902)	-	8.52	0.0	RLBP1, RHO, RDH5

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
isoprenoid binding (GO:0019840)	6.05	2	RLBP1, RHO
lipid binding (GO:0008289)	3.26	2	RLBP1, RHO
vitamin binding (GO:0019842)	5.34	2	RLBP1, RHO
small molecule binding (GO:0036094)	1.89	2	RLBP1, RHO
binding (GO:0005488)	0.18	2	RLBP1, RHO
retinoid binding (GO:0005501)	6.1	2	RLBP1, RHO
retinal binding (GO:0016918)	7.1	2	RLBP1, RHO

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
isoprenoid binding (GO:0019840)	-	6.05	0.0	RLBP1, RHO
retinoid binding (GO:0005501)	-	6.1	0.0	RLBP1, RHO
vitamin binding (GO:0019842)	-	5.34	0.002	RLBP1, RHO
retinal binding (GO:0016918)	-	7.1	0.0	RLBP1, RHO

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
multicellular organismal process (GO:0032501)	1.45	4	RLBP1, PRPH2, RHO, RDH5
neurological system process (GO:0050877)	2.64	4	RLBP1, PRPH2, RHO, RDH5
visual perception (GO:0007601)	4.41	4	RLBP1, PRPH2, RHO, RDH5
sensory perception (GO:0007600)	2.93	4	RLBP1, PRPH2, RHO, RDH5
sensory perception of light stimulus (GO:0050953)	4.4	4	RLBP1, PRPH2, RHO, RDH5
system process (GO:0003008)	2.3	4	RLBP1, PRPH2, RHO, RDH5
primary metabolic process (GO:0044238)	0.69	3	RLBP1, RHO, RDH5
single-organism metabolic process (GO:0044710)	1.63	3	RLBP1, RHO, RDH5
lipid metabolic process (GO:0006629)	2.68	3	RLBP1, RHO, RDH5
terpenoid metabolic process (GO:0006721)	5.07	3	RLBP1, RHO, RDH5
isoprenoid metabolic process (GO:0006720)	4.89	3	RLBP1, RHO, RDH5
response to stimulus (GO:0050896)	1.22	3	RLBP1, RHO, RDH5
cellular process (GO:0009987)	0.26	3	RLBP1, RHO, RDH5
single-organism cellular process (GO:0044763)	0.65	3	RLBP1, RHO, RDH5
cellular metabolic process (GO:0044237)	0.69	3	RLBP1, RHO, RDH5
organic substance metabolic process (GO:0071704)	0.63	3	RLBP1, RHO, RDH5
biological regulation (GO:0065007)	0.39	3	PRPH2, RHO, RDH5
metabolic process (GO:0008152)	0.58	3	RLBP1, RHO, RDH5
diterpenoid metabolic process (GO:0016101)	5.17	3	RLBP1, RHO, RDH5
cellular lipid metabolic process (GO:0044255)	2.92	3	RLBP1, RHO, RDH5
retinoid metabolic process (GO:0001523)	5.25	3	RLBP1, RHO, RDH5
single-organism process (GO:0044699)	0.48	3	RLBP1, RHO, RDH5
developmental process (GO:0032502)	1.36	2	PRPH2, RHO
anatomical structure development (GO:0048856)	1.58	2	PRPH2, RHO
regulation of cellular process (GO:0050794)	0.5	2	PRPH2, RHO
retina development in camera-type eye (GO:0060041)	5.51	2	PRPH2, RHO
small molecule metabolic process (GO:0044281)	2.38	2	RLBP1, RDH5
regulation of biological process (GO:0050789)	0.45	2	PRPH2, RHO
signal transduction (GO:0007165)	1.28	2	PRPH2, RHO

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
response to radiation (GO:0009314)	NEW	3.69	0.005	RLBP1, RHO, RDH5
response to light stimulus (GO:0009416)	NEW	4.08	0.002	RLBP1, RHO, RDH5
retina development in camera-type eye (GO:0060041)	-	5.51	0.005	PRPH2, RHO
retinoid metabolic process (GO:0001523)	-	5.25	0.001	RLBP1, RHO, RDH5
neurological system process (GO:0050877)	-	2.64	0.0	RLBP1, PRPH2, RHO, RDH5
diterpenoid metabolic process (GO:0016101)	-	5.17	0.002	RLBP1, RHO, RDH5
detection of external stimulus (GO:0009581)	NEW	4.98	0.0	RLBP1, RHO, RDH5
detection of abiotic stimulus (GO:0009582)	NEW	4.96	0.037	RLBP1, RHO, RDH5
detection of light stimulus (GO:0009583)	NEW	5.67	0.0	RLBP1, RHO, RDH5
detection of visible light (GO:0009584)	NEW	6.23	0.007	RLBP1, RHO, RDH5
terpenoid metabolic process (GO:0006721)	-	5.07	0.0	RLBP1, RHO, RDH5
isoprenoid metabolic process (GO:0006720)	-	4.89	0.004	RLBP1, RHO, RDH5
visual perception (GO:0007601)	-	4.41	0.0	RLBP1, PRPH2, RHO, RDH5
sensory perception (GO:0007600)	-	2.93	0.0	RLBP1, PRPH2, RHO, RDH5
sensory perception of light stimulus (GO:0050953)	-	4.4	0.0	RLBP1, PRPH2, RHO, RDH5
phototransduction (GO:0007602)	NEW	5.99	0.007	RLBP1, RHO, RDH5
phototransduction, visible light (GO:0007603)	NEW	7.53	0.002	RLBP1, RHO, RDH5
cellular lipid metabolic process (GO:0044255)	-	2.92	0.034	RLBP1, RHO, RDH5
system process (GO:0003008)	-	2.3	0.001	RLBP1, PRPH2, RHO, RDH5
response to abiotic stimulus (GO:0009628)	NEW	2.8	0.048	RLBP1, RHO, RDH5
detection of stimulus (GO:0051606)	NEW	3.22	0.017	RLBP1, RHO, RDH5

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cell part (GO:0044464)	0.11	4	RLBP1, PRPH2, RHO, RDH5
intracellular part (GO:0044424)	0.28	3	RLBP1, RHO, RDH5
membrane part (GO:0044425)	0.95	3	PRPH2, RHO, RDH5
cytoplasmic part (GO:0044444)	0.82	3	RLBP1, RHO, RDH5
membrane (GO:0016020)	0.68	3	PRPH2, RHO, RDH5
organelle (GO:0043226)	0.4	3	PRPH2, RHO, RDH5
cell projection (GO:0042995)	2.47	2	PRPH2, RHO
primary cilium (GO:0072372)	4.64	2	PRPH2, RHO
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	RHO, RDH5
endoplasmic reticulum part (GO:0044432)	2.73	2	RHO, RDH5
intrinsic component of plasma membrane (GO:0031226)	2.53	2	PRPH2, RHO
integral component of membrane (GO:0016021)	1.14	2	PRPH2, RHO
cell body (GO:0044297)	3.74	2	RLBP1, RDH5
endoplasmic reticulum membrane (GO:0005789)	2.95	2	RHO, RDH5
intracellular organelle part (GO:0044446)	0.81	2	RHO, RDH5
neuron part (GO:0097458)	2.64	2	PRPH2, RHO
intracellular organelle (GO:0043229)	0.51	2	RHO, RDH5
organelle part (GO:0044422)	0.79	2	RHO, RDH5
integral component of plasma membrane (GO:0005887)	2.57	2	PRPH2, RHO
cilium (GO:0005929)	3.89	2	PRPH2, RHO
plasma membrane part (GO:0044459)	1.95	2	PRPH2, RHO
nonmotile primary cilium (GO:0031513)	5.14	2	PRPH2, RHO
membrane-bounded organelle (GO:0043227)	0.47	2	RHO, RDH5
photoreceptor outer segment (GO:0001750)	5.78	2	PRPH2, RHO
intrinsic component of membrane (GO:0031224)	1.13	2	PRPH2, RHO

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cell body (GO:0044297)	-	3.74	0.01	RLBP1, RHO, RDH5