Visual phototransduction

Pathway network for the Visual phototransduction SuperPath

Sources:
  • Reactome
  • PubChem

Pathways in the Visual phototransduction SuperPath

#NameSourceGenes
1Visual phototransductionReactome
2Metabolism of fat-soluble vitaminsReactome
3Retinoid metabolism and transportReactome
4The phototransduction cascadeReactome
5Inactivation, recovery and regulation of the phototransduction cascadeReactome
6Visual signal transduction: RodsPubChem
7the visual cycle I (vertebrates)PubChem
8retinol biosynthesisPubChem
9Activation of the phototransduction cascadeReactome
10The retinoid cycle in cones (daylight vision)Reactome
11Defective visual phototransduction due to OPN1MW loss of functionReactome
12Defective visual phototransduction due to RDH5 loss of functionReactome
13Defective visual phototransduction due to LRAT loss of functionReactome
14Defective visual phototransduction due to RDH12 loss of functionReactome
15Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)Reactome
16Defective visual phototransduction due to OPN1SW loss of functionReactome
17Defective visual phototransduction due to OPN1LW loss of functionReactome
18Vitamin E transportReactome

Gene overlap in member pathways for Visual phototransduction SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Visual phototransduction SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Retinal diseaseDirect
2Fundus albipunctatusDirect
3Leber plus diseaseDirect
4Congenital stationary night blindnessDirect
5TritanopiaDirect
6Color blindnessDirect
7Hereditary retinal dystrophyEnrichmentCNGA1, CNGB1, GNAT1, PDE6A, PDE6B, PDE6G, RHO, SAG, SLC24A111.35
8Fundus dystrophyEnrichmentCNGA1, CNGB1, GNAT1, PDE6A, PDE6B, PDE6G, RHO, SAG, SLC24A111.35
9Retinitis pigmentosaEnrichmentCNGA1, GNAT1, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RDH12, RDH5, RHO, RPE65, SAG, SLC24A110.96
10Cone-rod dystrophy 2EnrichmentABCA4, CNGA1, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, GUCY2D, OPN1LW, OPN1MW, PDE6B, RBP3, RDH12, RHO10.38
11Eye diseaseEnrichmentLRAT, RBP4, RDH12, RLBP1, RPE659.76
12Cone dystrophy 3EnrichmentGUCA1A, GUCA1ANB-GUCA1A, GUCA1B7.80
13Familial hypercholesterolemiaEnrichmentAPOA2, APOB, APOE, LDLR6.89
14Blue cone monochromacyEnrichmentOPN1LW, OPN1MW6.52
15X-linked cone dysfunction syndrome with myopiaEnrichmentOPN1LW, OPN1MW6.52
16Hyperlipidemia, familial combined, 3EnrichmentAPOB, LDLR, LPL6.50
17Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM36.06
18Night blindness, congenital stationary, autosomal dominant 2EnrichmentPDE6B, SLC24A15.75
19Oguchi disease 2EnrichmentGRK1, SAG5.69
20BradyopsiaEnrichmentRGS9, RGS9BP5.69
21Oguchi diseaseEnrichmentGRK1, SAG5.69
22Cone-rod dystrophy 6EnrichmentABCA4, GUCA1A, GUCY2D, PDE6B5.55
23Stargardt disease 1EnrichmentLRAT, RDH12, RPE655.46
24Cone-rod dystrophy 14EnrichmentGUCA1A, GUCA1ANB-GUCA1A5.19
25Hypercholesterolemia, familial, 1EnrichmentAPOA2, APOB, LDLR5.05
26Hyperlipoproteinemia, type iEnrichmentGPIHBP1, LPL4.99
27Hyperlipoproteinemia, type iiiEnrichmentAPOE, LDLR4.99
28Familial lipoprotein lipase deficiencyEnrichmentGPIHBP1, LPL4.99
29Hypercholesterolemia, familial, 2EnrichmentAPOB, LDLR4.51
30Simpson-golabi-behmel syndrome, type 1EnrichmentGPC3, GPC44.51
31Leber congenital amaurosis 14EnrichmentABCA4, LRAT4.25
32Leber congenital amaurosis 1EnrichmentGUCY2D, LRAT4.24
33Long qt syndrome 1EnrichmentCALM1, CALM2, CALM34.22
34Coronary artery anomalyEnrichmentAPOC3, LPL4.21
35Choroidal dystrophy, central areolar, 1EnrichmentGUCA1A, GUCY2D4.19
36Ataxia with vitamin e deficiencyEnrichmentTTPA4.13
37Isolated macular dystrophyEnrichmentABCA4, GUCA1A, GUCA1ANB-GUCA1A3.85
38Lipid metabolism disorderEnrichmentAPOE, LDLR3.82
39Bietti crystalline corneoretinal dystrophyEnrichmentABCA4, CYP4V23.78
40Homozygous familial hypercholesterolemiaEnrichmentAPOB, LDLR3.55
41Optic atrophy plus syndromeEnrichmentABCA4, CYP4V2, GUCY2D, RDH53.49
42Coronary heart disease 5EnrichmentAPOB, LDLR3.44
43Cone dystrophyEnrichmentGUCY2D, SAG3.25
44Colorblindness, partial, deutan seriesEnrichmentOPN1MW3.23
45Bothnia retinal dystrophyEnrichmentRLBP13.23
46Newfoundland rod-cone dystrophyEnrichmentRLBP13.23
47Retinitis pigmentosa 66EnrichmentRBP33.23
48Colorblindness, partial, protan seriesEnrichmentOPN1LW3.23
49Red-green color blindnessEnrichmentOPN1MW3.23
50Night blindness, congenital stationary, autosomal dominant 1EnrichmentRHO3.09
51Retinitis pigmentosa 57EnrichmentPDE6G3.09
52Retinitis pigmentosa 47EnrichmentSAG3.09
53Oguchi disease 1EnrichmentSAG3.09
54Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT13.09
55Night blindness, congenital stationary, type 1gEnrichmentGNAT13.09
56Night blindness, congenital stationary, type 1dEnrichmentSLC24A13.09
57Retinitis pigmentosa 4EnrichmentRHO3.09
58Retinitis pigmentosa 45EnrichmentCNGB13.09
59Retinitis pigmentosa 43EnrichmentPDE6A3.09
60Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB13.09
61Retinitis pigmentosa 96EnrichmentSAG3.09
62Hypercarotenemia and vitamin a deficiency, autosomal dominantEnrichmentBCO13.02
63Microphthalmia/coloboma 10EnrichmentRBP43.02
64Drug metabolism, altered, ces1-relatedEnrichmentCES13.02
65Pancreatic lipase deficiencyEnrichmentPNLIP3.02
66Pancreatic triacylglycerol lipase deficiencyEnrichmentPNLIP3.02
67Hereditary hypercarotenemia and vitamin a deficiencyEnrichmentBCO13.02
68Stargardt disease 5EnrichmentRDH83.02
69Leber congenital amaurosis 2EnrichmentRPE652.99
70Retinitis pigmentosa 87 with choroidal involvementEnrichmentRPE652.99
71Retinitis pigmentosa 20EnrichmentRPE652.99
72Night blindness, congenital stationary, type1iEnrichmentGUCY2D2.83
73Prolonged electroretinal response suppression 1EnrichmentRGS92.83
74Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.83
75Neuropathy, congenital hypomyelinating, 2EnrichmentRHO2.79
76Retinitis pigmentosa 49EnrichmentCNGA12.79
77Optic disk drusenEnrichmentRHO2.79
78Cerebral visual impairmentEnrichmentGNB12.79
79Usher syndromeEnrichmentGUCA1A, GUCA1ANB-GUCA1A, MYO7A2.72
80Retinal dystrophy, juvenile cataracts, and short stature syndromeEnrichmentRDH112.72
81Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP42.72
82Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP42.72
83Acth deficiency, isolatedEnrichmentRPE652.69
84Congenital isolated adrenocorticotropic hormone deficiencyEnrichmentRPE652.69
85Retinitis pigmentosa 40EnrichmentPDE6B2.61
86Microcephaly 17, primary, autosomal recessiveEnrichmentRHO2.61
87Long qt syndrome 16EnrichmentCALM32.59
88Retinitis pigmentosa 48EnrichmentGUCA1B2.59
89Long qt syndrome 15EnrichmentCALM22.59
90Long qt syndromeEnrichmentCALM1, CALM22.54
91Leber congenital amaurosis 13EnrichmentRDH122.54
92Prolonged electroretinal response suppression 2EnrichmentRGS9BP2.53
93Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB52.53
94Carpal tunnel syndrome 1EnrichmentTTR2.49
95Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR2.49
96Atrophoderma vermiculataEnrichmentLRP12.49
97Sea-blue histiocyte diseaseEnrichmentAPOE2.49
98Lipoprotein glomerulopathyEnrichmentAPOE2.49
99Amyloidosis, hereditary systemic 1EnrichmentTTR2.49
100Hyperlipoproteinemia, type idEnrichmentGPIHBP12.49
101Keratosis pilaris atrophicansEnrichmentLRP12.49
102Donnai-barrow syndromeEnrichmentLRP22.49
103Keipert syndromeEnrichmentGPC42.49
104Tubulointerstitial kidney disease, autosomal dominant 6EnrichmentAPOA42.49
105Apolipoprotein c-iii deficiencyEnrichmentAPOC32.49
106Prolactin-producing pituitary gland adenomaEnrichmentLRP22.49
107AmyloidosisEnrichmentTTR2.49
108Hereditary amyloidosisEnrichmentTTR2.49
109Attrv30m amyloidosisEnrichmentTTR2.49
110Aapoaii amyloidosisEnrichmentAPOA22.49
111Attrv122i amyloidosisEnrichmentTTR2.49
112Vitamin k-dependent clotting factors, combined deficiency of, 2EnrichmentVKORC12.45
113Schnyder corneal dystrophyEnrichmentUBIAD12.45
114Congenital vitamin k-dependent coagulation factors deficiencyEnrichmentVKORC12.45
115Macular dystrophy with or without cone dysfunctionEnrichmentRDH122.42
116Retinal detachmentEnrichmentRHO2.39
117Albinism, oculocutaneous, type iiEnrichmentPDE6B2.39
118Night blindness, congenital stationary, type 1cEnrichmentGNAT12.39
119Night blindnessEnrichmentRHO2.39
120Mitochondrial dna depletion syndrome 4aEnrichmentRLBP12.38
121Polr3-related leukodystrophyEnrichmentGUCY2D2.35
122Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM12.29
123Long qt syndrome 14EnrichmentCALM12.29
1242p21 microdeletion syndrome without cystinuriaEnrichmentCAMKMT2.29
125Coats diseaseEnrichmentRHO2.25
126AchromatopsiaEnrichmentOPN1MW2.23
127HypothyroidismEnrichmentGNB12.19
128Apolipoprotein c-ii deficiencyEnrichmentAPOC22.19
129Omodysplasia 1EnrichmentGPC62.19
130Alzheimer disease 3EnrichmentAPOE2.19
131Mononeuropathy of the median nerve, mildEnrichmentTTR2.19
132Lipase deficiency, combinedEnrichmentLPL2.19
133Schwartz-jampel syndrome, type 1EnrichmentHSPG22.19
134Hypobetalipoproteinemia, familial, 1EnrichmentAPOB2.19
135Amyotrophic lateral sclerosis 28EnrichmentLRP122.19
136Developmental dysplasia of the hip 3EnrichmentLRP12.19
137Familial apolipoprotein c-ii deficiencyEnrichmentAPOC22.19
138HypobetalipoproteinemiaEnrichmentAPOB2.19
139Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA12.19
140Amyloidosis, hereditary systemic 3EnrichmentAPOA12.19
141Non-syndromic syndactylyEnrichmentLRP22.19
142Hereditary combined deficiency of vitamin k-dependent clotting factorsEnrichmentVKORC12.15
143Retinal degenerationEnrichmentRPE652.14
1443-methylglutaconic aciduria, type iiiEnrichmentGUCY2D2.13
145Deafness, autosomal recessive 2EnrichmentMYO7A2.12
146Mandibulofacial dysostosis with impaired intellectual developmentEnrichmentABCA42.12
147Deafness, autosomal dominant 11EnrichmentMYO7A2.12
148Ichthyosis, congenital, autosomal recessive 13EnrichmentSDR9C72.12
149Usher syndrome type 1bEnrichmentMYO7A2.12
150Atypical hypotonia-cystinuria syndromeEnrichmentCAMKMT2.11
151Leukemia, acute lymphoblasticEnrichmentGNB12.05
152Myelodysplastic syndromeEnrichmentGNB12.05
153Hyperalphalipoproteinemia 1EnrichmentAPOC32.01
154Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG22.01
155Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR2.01
156Alzheimer disease 4EnrichmentAPOE2.01
157Hypercholesterolemia, familial, 4EnrichmentLDLR2.01
15846,xy sex reversal 8EnrichmentAKR1C42.01
159Hypoalphalipoproteinemia, primary, 2EnrichmentAPOA12.01
160Keratosis follicularis spinulosa decalvansEnrichmentLRP12.01
161Syndromic x-linked intellectual disability najm typeEnrichmentLDLR2.01
162Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA12.01
163Macs syndromeEnrichmentRBP4, STRA62.01
1642p21 microdeletion syndromeEnrichmentCAMKMT1.99
165Coumarin resistanceEnrichmentVKORC11.98
166CataractEnrichmentRHO1.95
167MicrophthalmiaEnrichmentRBP4, STRA61.93
168Microphthalmia/coloboma 12EnrichmentRBP41.91
169Macular degeneration, age-related, 1EnrichmentAPOE1.89
170Hypoalphalipoproteinemia, primary, 1EnrichmentAPOA11.89
171ProlactinomaEnrichmentLRP21.89
172Cleft palate, isolatedEnrichmentGNB11.86
173Coloboma of maculaEnrichmentRBP41.85
174Anterior segment dysgenesisEnrichmentRBP41.85
175Stargardt disease 3EnrichmentABCA41.82
176Cone-rod dystrophy 3EnrichmentABCA41.82
177Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.81
178Alzheimer disease 2EnrichmentAPOE1.79
179Amyloidosis, hereditary systemic 2EnrichmentAPOA11.79
180Myasthenic syndrome, congenital, 8EnrichmentAGRN1.79
181Developmental dysplasia of the hip 1EnrichmentAKR1C11.71
182Cowden syndrome 1EnrichmentLDLR1.71
183Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.69
184StrabismusEnrichmentGNB11.66
185Macular degeneration, age-related, 2EnrichmentABCA41.65
186Retinitis pigmentosa 1EnrichmentABCA41.65
187Microphthalmia, syndromic 9EnrichmentSTRA61.65
188Retinitis pigmentosa 19EnrichmentABCA41.65
189Age related macular degenerationEnrichmentABCA41.65
190Oculopharyngodistal myopathy 1EnrichmentLRP121.65
191Thrombophilia due to thrombin defectEnrichmentVKORC11.61
192DystoniaEnrichmentGNB11.55
193Retinitis pigmentosa 91EnrichmentABCA41.53
194ChoroideremiaEnrichmentCYP4V21.53
195VitreoretinopathyEnrichmentABCA41.53
196Cerebral palsyEnrichmentGNB11.51
197Attention deficit-hyperactivity disorderEnrichmentGNB51.50
198Presynaptic congenital myasthenic syndromesEnrichmentAGRN1.45
199Macular degenerationEnrichmentABCA41.43
200Postsynaptic congenital myasthenic syndromesEnrichmentAGRN1.42
201Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB11.40
202Alzheimer's diseaseEnrichmentAPOE1.38
203Chromosome 1p36 deletion syndromeEnrichmentHSPG21.38
204Sudden infant death syndromeEnrichmentCALM21.37
205Syndromic rod-cone dystrophyEnrichmentABCA41.35
206Congenital myasthenic syndromeEnrichmentAGRN1.35
207Wilms tumor 1EnrichmentGPC31.32
208Meniere diseaseEnrichmentMYO7A1.29
209Alzheimer disease, familial, 1EnrichmentAPOE1.27
210CraniosynostosisEnrichmentGPC41.20
211Cardiomyopathy, dilated, 1aEnrichmentLPL1.18
212Myocardial infarctionEnrichmentLRP81.16
213AutismEnrichmentRPE651.14
214Congenital nonbullous ichthyosiform erythrodermaEnrichmentSDR9C71.14
215Usher syndrome type 2EnrichmentMYO7A1.10
216Autism spectrum disorderEnrichmentGNB11.07
217MicrocephalyEnrichmentGNB11.02
218Usher syndrome, type iEnrichmentMYO7A0.97
219Autosomal recessive congenital ichthyosisEnrichmentSDR9C70.97
220Charcot-marie-tooth diseaseEnrichmentTTR0.90
221Congenital nervous system abnormalityEnrichmentGNB50.84
222Nervous system diseaseEnrichmentGNB50.84
223Body mass index quantitative trait locus 11EnrichmentSDC30.82
224Ear malformationEnrichmentMYO7A0.78
225Auditory neuropathyEnrichmentMYO7A0.75
226Non-syndromic genetic deafnessEnrichmentMYO7A0.62
227Nonsyndromic hearing lossEnrichmentMYO7A0.57
228Sensorineural hearing lossEnrichmentMYO7A0.52
229Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMYO7A0.49
230Hereditary breast ovarian cancer syndromeEnrichmentMYO7A0.47
231Deafness, autosomal recessiveEnrichmentMYO7A0.42
232Autosomal recessive nonsyndromic deafnessEnrichmentMYO7A0.42
233Rare genetic deafnessEnrichmentMYO7A0.35
234Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMYO7A0.31

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