Visual Cycle in Retinal Rods

No Pathway Network information available for Visual Cycle in Retinal Rods

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

Disorders associated with Visual Cycle in Retinal Rods SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Retinitis pigmentosaEnrichmentCNGA1, CNGB1, CNGB3, GNAT1, GUCA1A, GUCA1B, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RBP3, RDH12, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A110.71
2Cone-rod dystrophy 2EnrichmentCABP4, CNGA1, CNGA3, CNGB3, GUCA1A, GUCA1B, GUCY2D, PDE6B, RBP3, RDH12, RHO10.58
3Hereditary retinal dystrophyEnrichmentCABP4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GRK1, GUCA1A, GUCA1B, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RBP3, RBP4, RDH11, RDH12, RDH5, RGS9, RHO, RLBP1, RPE65, SAG, SLC24A110.53
4Fundus dystrophyEnrichmentCABP4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GRK1, GUCA1A, GUCA1B, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RBP3, RBP4, RDH11, RDH12, RDH5, RGS9, RHO, RLBP1, RPE65, SAG, SLC24A110.53
5Congenital stationary night blindnessEnrichmentCABP4, GNAT1, GRK1, PDE6B, RBP3, RDH5, RHO, SAG, SLC24A110.43
6Eye diseaseEnrichmentCNGA3, CNGB3, GNAT2, LRAT, RBP4, RDH12, RLBP1, RPE6510.00
7Cone-rod dystrophy 6EnrichmentCNGB3, GNAT2, GUCA1A, GUCY2D, PDE6B7.56
8Leber plus diseaseEnrichmentCNGB3, GUCY2D, LRAT, PDE6A, PDE6B, RDH12, RGS9, RPE656.54
9AchromatopsiaEnrichmentCABP4, CNGA3, CNGB3, GNAT26.36
10Cone dystrophyEnrichmentCABP4, CNGA3, GNAT2, GUCY2D, SAG6.26
11Fundus albipunctatusEnrichmentRDH5, RHO, RLBP14.96
12Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.75
13Oguchi disease 2EnrichmentGRK1, SAG4.32
14Achromatopsia 3EnrichmentCNGA3, CNGB34.32
15Oguchi diseaseEnrichmentGRK1, SAG4.32
16Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR34.29
17Stargardt disease 1EnrichmentCNGB3, LRAT, RDH12, RPE654.29
18Night blindness, congenital stationary, autosomal dominant 2EnrichmentPDE6B, SLC24A13.85
19Cone dystrophy 3EnrichmentGUCA1A, GUCA1B3.85
20Anastomosing haemangiomaEnrichmentGNA11, GNA143.85
21Optic atrophy plus syndromeEnrichmentCNGA3, CNGB3, GUCY2D, RDH53.62
22Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.55
23Achromatopsia 4EnrichmentGNAI3, GNAT23.55
24Choroidal dystrophy, central areolar, 1EnrichmentGUCA1A, GUCY2D3.33
25Melanoma, uvealEnrichmentGNA11, PLCB43.15
26Leber congenital amaurosis 1EnrichmentGUCY2D, LRAT2.89
27Anterior segment dysgenesisEnrichmentITPR1, RBP42.33
28Carpal tunnel syndrome 1EnrichmentTTR2.16
29Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.16
30Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR2.16
31Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.16
32Skin/hair/eye pigmentation, variation in, 6EnrichmentSLC24A42.16
33Achromatopsia 2EnrichmentCNGA32.16
34Night blindness, congenital stationary, autosomal dominant 1EnrichmentRHO2.16
35Pseudohypoparathyroidism, type icEnrichmentGNAS2.16
36Osseous heteroplasia, progressiveEnrichmentGNAS2.16
37Bothnia retinal dystrophyEnrichmentRLBP12.16
38Amyloidosis, hereditary systemic 1EnrichmentTTR2.16
39Newfoundland rod-cone dystrophyEnrichmentRLBP12.16
40Retinitis pigmentosa 66EnrichmentRBP32.16
41Retinitis pigmentosa 57EnrichmentPDE6G2.16
42Microphthalmia/coloboma 10EnrichmentRBP42.16
43Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.16
44Leber congenital amaurosis 2EnrichmentRPE652.16
45Deafness, autosomal recessive 93EnrichmentCABP22.16
46Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.16
47Ventricular tachycardia, familialEnrichmentGNAI22.16
48Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.16
49Joubert syndrome 22EnrichmentPDE6D2.16
50Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.16
51Pituitary adenoma 3, multiple typesEnrichmentGNAS2.16
52Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.16
53Retinitis pigmentosa 87 with choroidal involvementEnrichmentRPE652.16
54Retinitis pigmentosa 47EnrichmentSAG2.16
55Oguchi disease 1EnrichmentSAG2.16
56Auriculocondylar syndrome 2aEnrichmentPLCB42.16
57Night blindness, congenital stationary, type1iEnrichmentGUCY2D2.16
58Myopia 26, x-linked, female-limitedEnrichmentARR32.16
59Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.16
60Prolonged electroretinal response suppression 1EnrichmentRGS92.16
61Developmental and epileptic encephalopathy 17EnrichmentGNAO12.16
62Amelogenesis imperfecta, hypomaturation type, iia5EnrichmentSLC24A42.16
63Spinocerebellar ataxia 14EnrichmentPRKCG2.16
64Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT12.16
65Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A12.16
66Dystonia 25EnrichmentGNAL2.16
67Night blindness, congenital stationary, type 1gEnrichmentGNAT12.16
68Night blindness, congenital stationary, type 1dEnrichmentSLC24A12.16
69Long qt syndrome 16EnrichmentCALM32.16
70Hypocalcemia, autosomal dominant 2EnrichmentGNA112.16
71Retinitis pigmentosa 4EnrichmentRHO2.16
72Disorders of gnas inactivationEnrichmentGNAS2.16
73Retinitis pigmentosa 45EnrichmentCNGB12.16
74Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.16
75Retinitis pigmentosa 20EnrichmentRPE652.16
76Retinitis pigmentosa 43EnrichmentPDE6A2.16
77Retinitis pigmentosa 48EnrichmentGUCA1B2.16
78Retinitis pigmentosa 96EnrichmentSAG2.16
79Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A12.16
80Auriculocondylar syndrome 2bEnrichmentPLCB42.16
81Long qt syndrome 15EnrichmentCALM22.16
82AmyloidosisEnrichmentTTR2.16
83Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.16
84Stargardt disease 5EnrichmentRDH82.16
85Monostotic fibrous dysplasiaEnrichmentGNAS2.16
86Hereditary amyloidosisEnrichmentTTR2.16
87Gnao1-related disorderEnrichmentGNAO12.16
88Attrv30m amyloidosisEnrichmentTTR2.16
89Phakomatosis cesiomarmorataEnrichmentGNA112.16
90Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.16
91Kaposiform hemangioendotheliomaEnrichmentGNA142.16
92Mazabraud syndromeEnrichmentGNAS2.16
93Attrv122i amyloidosisEnrichmentTTR2.16
94Spinocerebellar ataxia 29EnrichmentITPR11.86
95Pseudohypoparathyroidism, type iaEnrichmentGNAS1.86
96Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.86
97Cutis marmorata telangiectatica congenitaEnrichmentGNA111.86
98Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.86
99PseudopseudohypoparathyroidismEnrichmentGNAS1.86
100Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.86
101Mononeuropathy of the median nerve, mildEnrichmentTTR1.86
102Duodenal atresiaEnrichmentGUCY2C1.86
103Epiphyseal chondrodysplasia, miura typeEnrichmentNPR21.86
104Angioma, tuftedEnrichmentGNA141.86
105Retinal dystrophy, juvenile cataracts, and short stature syndromeEnrichmentRDH111.86
106Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP41.86
107Long qt syndrome 14EnrichmentCALM11.86
108Acth deficiency, isolatedEnrichmentRPE651.86
109Neuropathy, congenital hypomyelinating, 2EnrichmentRHO1.86
110Retinitis pigmentosa 49EnrichmentCNGA11.86
111Autosomal dominant hypocalcemiaEnrichmentGNA111.86
112Optic disk drusenEnrichmentRHO1.86
113Cone-rod synaptic disorder, congenital nonprogressiveEnrichmentCABP41.86
114PseudohypoparathyroidismEnrichmentGNAS1.86
115Acromesomelic dysplasia 1EnrichmentNPR21.86
116Ocular melanomaEnrichmentPLCB41.86
117Diarrhea 6EnrichmentGUCY2C1.86
118El hayek-chahrour neurodevelopmental syndromeEnrichmentKDM5A1.86
119Cone-rod dystrophy 14EnrichmentGUCA1A1.86
120HypopituitarismEnrichmentGNAI21.86
121Leber congenital amaurosis 14EnrichmentLRAT1.86
122BradyopsiaEnrichmentRGS91.86
123Congenital diarrhea 6EnrichmentGUCY2C1.86
124Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiencyEnrichmentGUCY2C1.86
125Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP41.86
126Congenital isolated adrenocorticotropic hormone deficiencyEnrichmentRPE651.86
127Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.86
128Autosomal recessive congenital stationary night blindnessEnrichmentCABP41.86
129Phakomatosis cesioflammeaEnrichmentGNA111.86
130Long qt syndromeEnrichmentCALM1, CALM21.71
131Mccune-albright syndromeEnrichmentGNAS1.69
132Gillespie syndromeEnrichmentITPR11.69
133Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentGUCY2C1.69
134Leber congenital amaurosis 13EnrichmentRDH121.69
135Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA111.69
136Epilepsy, familial focal, with variable foci 2EnrichmentNPR21.69
137Retinitis pigmentosa 40EnrichmentPDE6B1.69
138Microcephaly 17, primary, autosomal recessiveEnrichmentRHO1.69
139Polr3-related leukodystrophyEnrichmentGUCY2D1.69
140Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.69
141Usher syndromeEnrichmentCABP4, GUCA1A1.66
142Amelogenesis imperfecta, type iiiaEnrichmentSLC24A41.56
143Pseudohypoparathyroidism, type ibEnrichmentGNAS1.56
144Aland island eye diseaseEnrichmentCABP41.56
145Spinocerebellar ataxia 15EnrichmentITPR11.56
146Developmental and epileptic encephalopathy 12EnrichmentPLCB11.56
147Meconium ileusEnrichmentGUCY2C1.56
148Short stature with nonspecific skeletal abnormalities 1EnrichmentNPR21.56
149Macular dystrophy with or without cone dysfunctionEnrichmentRDH121.56
150Hereditary ataxiaEnrichmentPRKCG1.56
151Color blindnessEnrichmentCNGA31.56
152Capillary malformations, congenitalEnrichmentGNA111.47
153Retinal detachmentEnrichmentRHO1.47
1543-methylglutaconic aciduria, type iiiEnrichmentGUCY2D1.47
155Albinism, oculocutaneous, type iiEnrichmentPDE6B1.47
156Night blindness, congenital stationary, type 1cEnrichmentGNAT11.47
157Night blindnessEnrichmentRHO1.47
158Macular degenerationEnrichmentCNGA31.47
159West syndromeEnrichmentGNAO1, PLCB11.43
160Moyamoya disease 1EnrichmentGUCY1A11.39
161Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.39
162Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.39
163Mitochondrial dna depletion syndrome 4aEnrichmentRLBP11.32
164Coats diseaseEnrichmentRHO1.32
165BrachydactylyEnrichmentGNAS1.32
166Retinal degenerationEnrichmentRPE651.32
167MegacolonEnrichmentSLC8A11.32
168Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCABP41.32
169Amelogenesis imperfecta type 2EnrichmentSLC24A41.32
170Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.27
171Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.27
172Choreatic diseaseEnrichmentGNAO11.27
173Inflammatory bowel disease 1EnrichmentPRKCQ1.22
174Developmental and epileptic encephalopathy 14EnrichmentPLCB11.22
175Primary hyperaldosteronismEnrichmentGNAS1.22
176Stroke, ischemicEnrichmentPRKCH1.17
177Orofaciodigital syndrome viEnrichmentPDE6D1.13
178Movement diseaseEnrichmentGNAO11.13
179Congenital long qt syndromeEnrichmentITPR31.10
180Microphthalmia/coloboma 12EnrichmentRBP41.06
181Amelogenesis imperfectaEnrichmentSLC24A41.06
182Multiple sclerosisEnrichmentITPR11.03
183CataractEnrichmentRHO1.03
184Isolated macular dystrophyEnrichmentGUCA1A1.03
185Coloboma of maculaEnrichmentRBP41.00
186Rare genetic intellectual disabilityEnrichmentGNAO11.00
187Sudden infant death syndromeEnrichmentCALM20.95
188Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.93
189Macs syndromeEnrichmentRBP40.89
190CraniosynostosisEnrichmentNPR20.89
191Myocardial infarctionEnrichmentGUCY1A10.85
192MicrophthalmiaEnrichmentRBP40.85
193Developmental and epileptic encephalopathy 1EnrichmentGNAO10.80
194Isolated joubert syndromeEnrichmentPDE6D0.72
195DystoniaEnrichmentGNAL0.67
196Developmental and epileptic encephalopathyEnrichmentGNAO10.65
197Charcot-marie-tooth diseaseEnrichmentTTR0.60
198Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.60
199Centralopathic epilepsyEnrichmentPLCB10.59
200Body mass index quantitative trait locus 11EnrichmentGNAS0.53
201Spastic ataxiaEnrichmentITPR10.51
202Deafness, autosomal recessiveEnrichmentCABP20.45
203Autosomal recessive nonsyndromic deafnessEnrichmentCABP20.44
204AutismEnrichmentRPE650.40
205Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCABP20.33
206Congenital nervous system abnormalityEnrichmentGNAO10.28
207Nervous system diseaseEnrichmentGNAO10.28
208MicrocephalyEnrichmentGNAO10.24

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