| 1 | Retinitis pigmentosa | Enrichment | CNGA1, CNGB1, CNGB3, GNAT1, GUCA1A, GUCA1B, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RBP3, RDH12, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1 | 10.71 |
| 2 | Cone-rod dystrophy 2 | Enrichment | CABP4, CNGA1, CNGA3, CNGB3, GUCA1A, GUCA1B, GUCY2D, PDE6B, RBP3, RDH12, RHO | 10.58 |
| 3 | Hereditary retinal dystrophy | Enrichment | CABP4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GRK1, GUCA1A, GUCA1B, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RBP3, RBP4, RDH11, RDH12, RDH5, RGS9, RHO, RLBP1, RPE65, SAG, SLC24A1 | 10.53 |
| 4 | Fundus dystrophy | Enrichment | CABP4, CNGA1, CNGA3, CNGB1, CNGB3, GNAT1, GNAT2, GRK1, GUCA1A, GUCA1B, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RBP3, RBP4, RDH11, RDH12, RDH5, RGS9, RHO, RLBP1, RPE65, SAG, SLC24A1 | 10.53 |
| 5 | Congenital stationary night blindness | Enrichment | CABP4, GNAT1, GRK1, PDE6B, RBP3, RDH5, RHO, SAG, SLC24A1 | 10.43 |
| 6 | Eye disease | Enrichment | CNGA3, CNGB3, GNAT2, LRAT, RBP4, RDH12, RLBP1, RPE65 | 10.00 |
| 7 | Cone-rod dystrophy 6 | Enrichment | CNGB3, GNAT2, GUCA1A, GUCY2D, PDE6B | 7.56 |
| 8 | Leber plus disease | Enrichment | CNGB3, GUCY2D, LRAT, PDE6A, PDE6B, RDH12, RGS9, RPE65 | 6.54 |
| 9 | Achromatopsia | Enrichment | CABP4, CNGA3, CNGB3, GNAT2 | 6.36 |
| 10 | Cone dystrophy | Enrichment | CABP4, CNGA3, GNAT2, GUCY2D, SAG | 6.26 |
| 11 | Fundus albipunctatus | Enrichment | RDH5, RHO, RLBP1 | 4.96 |
| 12 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 4.75 |
| 13 | Oguchi disease 2 | Enrichment | GRK1, SAG | 4.32 |
| 14 | Achromatopsia 3 | Enrichment | CNGA3, CNGB3 | 4.32 |
| 15 | Oguchi disease | Enrichment | GRK1, SAG | 4.32 |
| 16 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3 | 4.29 |
| 17 | Stargardt disease 1 | Enrichment | CNGB3, LRAT, RDH12, RPE65 | 4.29 |
| 18 | Night blindness, congenital stationary, autosomal dominant 2 | Enrichment | PDE6B, SLC24A1 | 3.85 |
| 19 | Cone dystrophy 3 | Enrichment | GUCA1A, GUCA1B | 3.85 |
| 20 | Anastomosing haemangioma | Enrichment | GNA11, GNA14 | 3.85 |
| 21 | Optic atrophy plus syndrome | Enrichment | CNGA3, CNGB3, GUCY2D, RDH5 | 3.62 |
| 22 | Auriculocondylar syndrome 1 | Enrichment | GNAI3, PLCB4 | 3.55 |
| 23 | Achromatopsia 4 | Enrichment | GNAI3, GNAT2 | 3.55 |
| 24 | Choroidal dystrophy, central areolar, 1 | Enrichment | GUCA1A, GUCY2D | 3.33 |
| 25 | Melanoma, uveal | Enrichment | GNA11, PLCB4 | 3.15 |
| 26 | Leber congenital amaurosis 1 | Enrichment | GUCY2D, LRAT | 2.89 |
| 27 | Anterior segment dysgenesis | Enrichment | ITPR1, RBP4 | 2.33 |
| 28 | Carpal tunnel syndrome 1 | Enrichment | TTR | 2.16 |
| 29 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.16 |
| 30 | Hyperthyroxinemia, dystransthyretinemic | Enrichment | TTR | 2.16 |
| 31 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.16 |
| 32 | Skin/hair/eye pigmentation, variation in, 6 | Enrichment | SLC24A4 | 2.16 |
| 33 | Achromatopsia 2 | Enrichment | CNGA3 | 2.16 |
| 34 | Night blindness, congenital stationary, autosomal dominant 1 | Enrichment | RHO | 2.16 |
| 35 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.16 |
| 36 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.16 |
| 37 | Bothnia retinal dystrophy | Enrichment | RLBP1 | 2.16 |
| 38 | Amyloidosis, hereditary systemic 1 | Enrichment | TTR | 2.16 |
| 39 | Newfoundland rod-cone dystrophy | Enrichment | RLBP1 | 2.16 |
| 40 | Retinitis pigmentosa 66 | Enrichment | RBP3 | 2.16 |
| 41 | Retinitis pigmentosa 57 | Enrichment | PDE6G | 2.16 |
| 42 | Microphthalmia/coloboma 10 | Enrichment | RBP4 | 2.16 |
| 43 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.16 |
| 44 | Leber congenital amaurosis 2 | Enrichment | RPE65 | 2.16 |
| 45 | Deafness, autosomal recessive 93 | Enrichment | CABP2 | 2.16 |
| 46 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.16 |
| 47 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.16 |
| 48 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.16 |
| 49 | Joubert syndrome 22 | Enrichment | PDE6D | 2.16 |
| 50 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.16 |
| 51 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.16 |
| 52 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.16 |
| 53 | Retinitis pigmentosa 87 with choroidal involvement | Enrichment | RPE65 | 2.16 |
| 54 | Retinitis pigmentosa 47 | Enrichment | SAG | 2.16 |
| 55 | Oguchi disease 1 | Enrichment | SAG | 2.16 |
| 56 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.16 |
| 57 | Night blindness, congenital stationary, type1i | Enrichment | GUCY2D | 2.16 |
| 58 | Myopia 26, x-linked, female-limited | Enrichment | ARR3 | 2.16 |
| 59 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.16 |
| 60 | Prolonged electroretinal response suppression 1 | Enrichment | RGS9 | 2.16 |
| 61 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.16 |
| 62 | Amelogenesis imperfecta, hypomaturation type, iia5 | Enrichment | SLC24A4 | 2.16 |
| 63 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.16 |
| 64 | Night blindness, congenital stationary, autosomal dominant 3 | Enrichment | GNAT1 | 2.16 |
| 65 | Moyamoya disease 6 with or without achalasia | Enrichment | GUCY1A1 | 2.16 |
| 66 | Dystonia 25 | Enrichment | GNAL | 2.16 |
| 67 | Night blindness, congenital stationary, type 1g | Enrichment | GNAT1 | 2.16 |
| 68 | Night blindness, congenital stationary, type 1d | Enrichment | SLC24A1 | 2.16 |
| 69 | Long qt syndrome 16 | Enrichment | CALM3 | 2.16 |
| 70 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.16 |
| 71 | Retinitis pigmentosa 4 | Enrichment | RHO | 2.16 |
| 72 | Disorders of gnas inactivation | Enrichment | GNAS | 2.16 |
| 73 | Retinitis pigmentosa 45 | Enrichment | CNGB1 | 2.16 |
| 74 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.16 |
| 75 | Retinitis pigmentosa 20 | Enrichment | RPE65 | 2.16 |
| 76 | Retinitis pigmentosa 43 | Enrichment | PDE6A | 2.16 |
| 77 | Retinitis pigmentosa 48 | Enrichment | GUCA1B | 2.16 |
| 78 | Retinitis pigmentosa 96 | Enrichment | SAG | 2.16 |
| 79 | Moyamoya disease with early-onset achalasia | Enrichment | GUCY1A1 | 2.16 |
| 80 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.16 |
| 81 | Long qt syndrome 15 | Enrichment | CALM2 | 2.16 |
| 82 | Amyloidosis | Enrichment | TTR | 2.16 |
| 83 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.16 |
| 84 | Stargardt disease 5 | Enrichment | RDH8 | 2.16 |
| 85 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.16 |
| 86 | Hereditary amyloidosis | Enrichment | TTR | 2.16 |
| 87 | Gnao1-related disorder | Enrichment | GNAO1 | 2.16 |
| 88 | Attrv30m amyloidosis | Enrichment | TTR | 2.16 |
| 89 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.16 |
| 90 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.16 |
| 91 | Kaposiform hemangioendothelioma | Enrichment | GNA14 | 2.16 |
| 92 | Mazabraud syndrome | Enrichment | GNAS | 2.16 |
| 93 | Attrv122i amyloidosis | Enrichment | TTR | 2.16 |
| 94 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.86 |
| 95 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.86 |
| 96 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 1.86 |
| 97 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 1.86 |
| 98 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 1.86 |
| 99 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.86 |
| 100 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.86 |
| 101 | Mononeuropathy of the median nerve, mild | Enrichment | TTR | 1.86 |
| 102 | Duodenal atresia | Enrichment | GUCY2C | 1.86 |
| 103 | Epiphyseal chondrodysplasia, miura type | Enrichment | NPR2 | 1.86 |
| 104 | Angioma, tufted | Enrichment | GNA14 | 1.86 |
| 105 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | Enrichment | RDH11 | 1.86 |
| 106 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | Enrichment | RBP4 | 1.86 |
| 107 | Long qt syndrome 14 | Enrichment | CALM1 | 1.86 |
| 108 | Acth deficiency, isolated | Enrichment | RPE65 | 1.86 |
| 109 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | RHO | 1.86 |
| 110 | Retinitis pigmentosa 49 | Enrichment | CNGA1 | 1.86 |
| 111 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 1.86 |
| 112 | Optic disk drusen | Enrichment | RHO | 1.86 |
| 113 | Cone-rod synaptic disorder, congenital nonprogressive | Enrichment | CABP4 | 1.86 |
| 114 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.86 |
| 115 | Acromesomelic dysplasia 1 | Enrichment | NPR2 | 1.86 |
| 116 | Ocular melanoma | Enrichment | PLCB4 | 1.86 |
| 117 | Diarrhea 6 | Enrichment | GUCY2C | 1.86 |
| 118 | El hayek-chahrour neurodevelopmental syndrome | Enrichment | KDM5A | 1.86 |
| 119 | Cone-rod dystrophy 14 | Enrichment | GUCA1A | 1.86 |
| 120 | Hypopituitarism | Enrichment | GNAI2 | 1.86 |
| 121 | Leber congenital amaurosis 14 | Enrichment | LRAT | 1.86 |
| 122 | Bradyopsia | Enrichment | RGS9 | 1.86 |
| 123 | Congenital diarrhea 6 | Enrichment | GUCY2C | 1.86 |
| 124 | Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency | Enrichment | GUCY2C | 1.86 |
| 125 | Progressive retinal dystrophy due to retinol transport defect | Enrichment | RBP4 | 1.86 |
| 126 | Congenital isolated adrenocorticotropic hormone deficiency | Enrichment | RPE65 | 1.86 |
| 127 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.86 |
| 128 | Autosomal recessive congenital stationary night blindness | Enrichment | CABP4 | 1.86 |
| 129 | Phakomatosis cesioflammea | Enrichment | GNA11 | 1.86 |
| 130 | Long qt syndrome | Enrichment | CALM1, CALM2 | 1.71 |
| 131 | Mccune-albright syndrome | Enrichment | GNAS | 1.69 |
| 132 | Gillespie syndrome | Enrichment | ITPR1 | 1.69 |
| 133 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | Enrichment | GUCY2C | 1.69 |
| 134 | Leber congenital amaurosis 13 | Enrichment | RDH12 | 1.69 |
| 135 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.69 |
| 136 | Epilepsy, familial focal, with variable foci 2 | Enrichment | NPR2 | 1.69 |
| 137 | Retinitis pigmentosa 40 | Enrichment | PDE6B | 1.69 |
| 138 | Microcephaly 17, primary, autosomal recessive | Enrichment | RHO | 1.69 |
| 139 | Polr3-related leukodystrophy | Enrichment | GUCY2D | 1.69 |
| 140 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.69 |
| 141 | Usher syndrome | Enrichment | CABP4, GUCA1A | 1.66 |
| 142 | Amelogenesis imperfecta, type iiia | Enrichment | SLC24A4 | 1.56 |
| 143 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.56 |
| 144 | Aland island eye disease | Enrichment | CABP4 | 1.56 |
| 145 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.56 |
| 146 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.56 |
| 147 | Meconium ileus | Enrichment | GUCY2C | 1.56 |
| 148 | Short stature with nonspecific skeletal abnormalities 1 | Enrichment | NPR2 | 1.56 |
| 149 | Macular dystrophy with or without cone dysfunction | Enrichment | RDH12 | 1.56 |
| 150 | Hereditary ataxia | Enrichment | PRKCG | 1.56 |
| 151 | Color blindness | Enrichment | CNGA3 | 1.56 |
| 152 | Capillary malformations, congenital | Enrichment | GNA11 | 1.47 |
| 153 | Retinal detachment | Enrichment | RHO | 1.47 |
| 154 | 3-methylglutaconic aciduria, type iii | Enrichment | GUCY2D | 1.47 |
| 155 | Albinism, oculocutaneous, type ii | Enrichment | PDE6B | 1.47 |
| 156 | Night blindness, congenital stationary, type 1c | Enrichment | GNAT1 | 1.47 |
| 157 | Night blindness | Enrichment | RHO | 1.47 |
| 158 | Macular degeneration | Enrichment | CNGA3 | 1.47 |
| 159 | West syndrome | Enrichment | GNAO1, PLCB1 | 1.43 |
| 160 | Moyamoya disease 1 | Enrichment | GUCY1A1 | 1.39 |
| 161 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.39 |
| 162 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.39 |
| 163 | Mitochondrial dna depletion syndrome 4a | Enrichment | RLBP1 | 1.32 |
| 164 | Coats disease | Enrichment | RHO | 1.32 |
| 165 | Brachydactyly | Enrichment | GNAS | 1.32 |
| 166 | Retinal degeneration | Enrichment | RPE65 | 1.32 |
| 167 | Megacolon | Enrichment | SLC8A1 | 1.32 |
| 168 | Autosomal dominant sleep-related hypermotor epilepsy | Enrichment | CABP4 | 1.32 |
| 169 | Amelogenesis imperfecta type 2 | Enrichment | SLC24A4 | 1.32 |
| 170 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.27 |
| 171 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.27 |
| 172 | Choreatic disease | Enrichment | GNAO1 | 1.27 |
| 173 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.22 |
| 174 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.22 |
| 175 | Primary hyperaldosteronism | Enrichment | GNAS | 1.22 |
| 176 | Stroke, ischemic | Enrichment | PRKCH | 1.17 |
| 177 | Orofaciodigital syndrome vi | Enrichment | PDE6D | 1.13 |
| 178 | Movement disease | Enrichment | GNAO1 | 1.13 |
| 179 | Congenital long qt syndrome | Enrichment | ITPR3 | 1.10 |
| 180 | Microphthalmia/coloboma 12 | Enrichment | RBP4 | 1.06 |
| 181 | Amelogenesis imperfecta | Enrichment | SLC24A4 | 1.06 |
| 182 | Multiple sclerosis | Enrichment | ITPR1 | 1.03 |
| 183 | Cataract | Enrichment | RHO | 1.03 |
| 184 | Isolated macular dystrophy | Enrichment | GUCA1A | 1.03 |
| 185 | Coloboma of macula | Enrichment | RBP4 | 1.00 |
| 186 | Rare genetic intellectual disability | Enrichment | GNAO1 | 1.00 |
| 187 | Sudden infant death syndrome | Enrichment | CALM2 | 0.95 |
| 188 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.93 |
| 189 | Macs syndrome | Enrichment | RBP4 | 0.89 |
| 190 | Craniosynostosis | Enrichment | NPR2 | 0.89 |
| 191 | Myocardial infarction | Enrichment | GUCY1A1 | 0.85 |
| 192 | Microphthalmia | Enrichment | RBP4 | 0.85 |
| 193 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1 | 0.80 |
| 194 | Isolated joubert syndrome | Enrichment | PDE6D | 0.72 |
| 195 | Dystonia | Enrichment | GNAL | 0.67 |
| 196 | Developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.65 |
| 197 | Charcot-marie-tooth disease | Enrichment | TTR | 0.60 |
| 198 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.60 |
| 199 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.59 |
| 200 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 0.53 |
| 201 | Spastic ataxia | Enrichment | ITPR1 | 0.51 |
| 202 | Deafness, autosomal recessive | Enrichment | CABP2 | 0.45 |
| 203 | Autosomal recessive nonsyndromic deafness | Enrichment | CABP2 | 0.44 |
| 204 | Autism | Enrichment | RPE65 | 0.40 |
| 205 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | CABP2 | 0.33 |
| 206 | Congenital nervous system abnormality | Enrichment | GNAO1 | 0.28 |
| 207 | Nervous system disease | Enrichment | GNAO1 | 0.28 |
| 208 | Microcephaly | Enrichment | GNAO1 | 0.24 |