| 1 | Retinal disease | Direct | | |
| 2 | Fundus albipunctatus | Direct | | |
| 3 | Leber plus disease | Direct | | |
| 4 | Congenital stationary night blindness | Direct | | |
| 5 | Tritanopia | Direct | | |
| 6 | Color blindness | Direct | | |
| 7 | Hereditary retinal dystrophy | Enrichment | CNGA1, CNGB1, GNAT1, PDE6A, PDE6B, PDE6G, RHO, SAG, SLC24A1 | 11.35 |
| 8 | Fundus dystrophy | Enrichment | CNGA1, CNGB1, GNAT1, PDE6A, PDE6B, PDE6G, RHO, SAG, SLC24A1 | 11.35 |
| 9 | Retinitis pigmentosa | Enrichment | CNGA1, GNAT1, GUCY2D, LRAT, PDE6A, PDE6B, PDE6G, RDH12, RDH5, RHO, RPE65, SAG, SLC24A1 | 10.96 |
| 10 | Cone-rod dystrophy 2 | Enrichment | ABCA4, CNGA1, GUCA1A, GUCA1ANB-GUCA1A, GUCA1B, GUCY2D, OPN1LW, OPN1MW, PDE6B, RBP3, RDH12, RHO | 10.38 |
| 11 | Eye disease | Enrichment | LRAT, RBP4, RDH12, RLBP1, RPE65 | 9.76 |
| 12 | Cone dystrophy 3 | Enrichment | GUCA1A, GUCA1ANB-GUCA1A, GUCA1B | 7.80 |
| 13 | Familial hypercholesterolemia | Enrichment | APOA2, APOB, APOE, LDLR | 6.89 |
| 14 | Blue cone monochromacy | Enrichment | OPN1LW, OPN1MW | 6.52 |
| 15 | X-linked cone dysfunction syndrome with myopia | Enrichment | OPN1LW, OPN1MW | 6.52 |
| 16 | Hyperlipidemia, familial combined, 3 | Enrichment | APOB, LDLR, LPL | 6.50 |
| 17 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 6.06 |
| 18 | Night blindness, congenital stationary, autosomal dominant 2 | Enrichment | PDE6B, SLC24A1 | 5.75 |
| 19 | Oguchi disease 2 | Enrichment | GRK1, SAG | 5.69 |
| 20 | Bradyopsia | Enrichment | RGS9, RGS9BP | 5.69 |
| 21 | Oguchi disease | Enrichment | GRK1, SAG | 5.69 |
| 22 | Cone-rod dystrophy 6 | Enrichment | ABCA4, GUCA1A, GUCY2D, PDE6B | 5.55 |
| 23 | Stargardt disease 1 | Enrichment | LRAT, RDH12, RPE65 | 5.46 |
| 24 | Cone-rod dystrophy 14 | Enrichment | GUCA1A, GUCA1ANB-GUCA1A | 5.19 |
| 25 | Hypercholesterolemia, familial, 1 | Enrichment | APOA2, APOB, LDLR | 5.05 |
| 26 | Hyperlipoproteinemia, type i | Enrichment | GPIHBP1, LPL | 4.99 |
| 27 | Hyperlipoproteinemia, type iii | Enrichment | APOE, LDLR | 4.99 |
| 28 | Familial lipoprotein lipase deficiency | Enrichment | GPIHBP1, LPL | 4.99 |
| 29 | Hypercholesterolemia, familial, 2 | Enrichment | APOB, LDLR | 4.51 |
| 30 | Simpson-golabi-behmel syndrome, type 1 | Enrichment | GPC3, GPC4 | 4.51 |
| 31 | Leber congenital amaurosis 14 | Enrichment | ABCA4, LRAT | 4.25 |
| 32 | Leber congenital amaurosis 1 | Enrichment | GUCY2D, LRAT | 4.24 |
| 33 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3 | 4.22 |
| 34 | Coronary artery anomaly | Enrichment | APOC3, LPL | 4.21 |
| 35 | Choroidal dystrophy, central areolar, 1 | Enrichment | GUCA1A, GUCY2D | 4.19 |
| 36 | Ataxia with vitamin e deficiency | Enrichment | TTPA | 4.13 |
| 37 | Isolated macular dystrophy | Enrichment | ABCA4, GUCA1A, GUCA1ANB-GUCA1A | 3.85 |
| 38 | Lipid metabolism disorder | Enrichment | APOE, LDLR | 3.82 |
| 39 | Bietti crystalline corneoretinal dystrophy | Enrichment | ABCA4, CYP4V2 | 3.78 |
| 40 | Homozygous familial hypercholesterolemia | Enrichment | APOB, LDLR | 3.55 |
| 41 | Optic atrophy plus syndrome | Enrichment | ABCA4, CYP4V2, GUCY2D, RDH5 | 3.49 |
| 42 | Coronary heart disease 5 | Enrichment | APOB, LDLR | 3.44 |
| 43 | Cone dystrophy | Enrichment | GUCY2D, SAG | 3.25 |
| 44 | Colorblindness, partial, deutan series | Enrichment | OPN1MW | 3.23 |
| 45 | Bothnia retinal dystrophy | Enrichment | RLBP1 | 3.23 |
| 46 | Newfoundland rod-cone dystrophy | Enrichment | RLBP1 | 3.23 |
| 47 | Retinitis pigmentosa 66 | Enrichment | RBP3 | 3.23 |
| 48 | Colorblindness, partial, protan series | Enrichment | OPN1LW | 3.23 |
| 49 | Red-green color blindness | Enrichment | OPN1MW | 3.23 |
| 50 | Night blindness, congenital stationary, autosomal dominant 1 | Enrichment | RHO | 3.09 |
| 51 | Retinitis pigmentosa 57 | Enrichment | PDE6G | 3.09 |
| 52 | Retinitis pigmentosa 47 | Enrichment | SAG | 3.09 |
| 53 | Oguchi disease 1 | Enrichment | SAG | 3.09 |
| 54 | Night blindness, congenital stationary, autosomal dominant 3 | Enrichment | GNAT1 | 3.09 |
| 55 | Night blindness, congenital stationary, type 1g | Enrichment | GNAT1 | 3.09 |
| 56 | Night blindness, congenital stationary, type 1d | Enrichment | SLC24A1 | 3.09 |
| 57 | Retinitis pigmentosa 4 | Enrichment | RHO | 3.09 |
| 58 | Retinitis pigmentosa 45 | Enrichment | CNGB1 | 3.09 |
| 59 | Retinitis pigmentosa 43 | Enrichment | PDE6A | 3.09 |
| 60 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 3.09 |
| 61 | Retinitis pigmentosa 96 | Enrichment | SAG | 3.09 |
| 62 | Hypercarotenemia and vitamin a deficiency, autosomal dominant | Enrichment | BCO1 | 3.02 |
| 63 | Microphthalmia/coloboma 10 | Enrichment | RBP4 | 3.02 |
| 64 | Drug metabolism, altered, ces1-related | Enrichment | CES1 | 3.02 |
| 65 | Pancreatic lipase deficiency | Enrichment | PNLIP | 3.02 |
| 66 | Pancreatic triacylglycerol lipase deficiency | Enrichment | PNLIP | 3.02 |
| 67 | Hereditary hypercarotenemia and vitamin a deficiency | Enrichment | BCO1 | 3.02 |
| 68 | Stargardt disease 5 | Enrichment | RDH8 | 3.02 |
| 69 | Leber congenital amaurosis 2 | Enrichment | RPE65 | 2.99 |
| 70 | Retinitis pigmentosa 87 with choroidal involvement | Enrichment | RPE65 | 2.99 |
| 71 | Retinitis pigmentosa 20 | Enrichment | RPE65 | 2.99 |
| 72 | Night blindness, congenital stationary, type1i | Enrichment | GUCY2D | 2.83 |
| 73 | Prolonged electroretinal response suppression 1 | Enrichment | RGS9 | 2.83 |
| 74 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.83 |
| 75 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | RHO | 2.79 |
| 76 | Retinitis pigmentosa 49 | Enrichment | CNGA1 | 2.79 |
| 77 | Optic disk drusen | Enrichment | RHO | 2.79 |
| 78 | Cerebral visual impairment | Enrichment | GNB1 | 2.79 |
| 79 | Usher syndrome | Enrichment | GUCA1A, GUCA1ANB-GUCA1A, MYO7A | 2.72 |
| 80 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | Enrichment | RDH11 | 2.72 |
| 81 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | Enrichment | RBP4 | 2.72 |
| 82 | Progressive retinal dystrophy due to retinol transport defect | Enrichment | RBP4 | 2.72 |
| 83 | Acth deficiency, isolated | Enrichment | RPE65 | 2.69 |
| 84 | Congenital isolated adrenocorticotropic hormone deficiency | Enrichment | RPE65 | 2.69 |
| 85 | Retinitis pigmentosa 40 | Enrichment | PDE6B | 2.61 |
| 86 | Microcephaly 17, primary, autosomal recessive | Enrichment | RHO | 2.61 |
| 87 | Long qt syndrome 16 | Enrichment | CALM3 | 2.59 |
| 88 | Retinitis pigmentosa 48 | Enrichment | GUCA1B | 2.59 |
| 89 | Long qt syndrome 15 | Enrichment | CALM2 | 2.59 |
| 90 | Long qt syndrome | Enrichment | CALM1, CALM2 | 2.54 |
| 91 | Leber congenital amaurosis 13 | Enrichment | RDH12 | 2.54 |
| 92 | Prolonged electroretinal response suppression 2 | Enrichment | RGS9BP | 2.53 |
| 93 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 2.53 |
| 94 | Carpal tunnel syndrome 1 | Enrichment | TTR | 2.49 |
| 95 | Hyperthyroxinemia, dystransthyretinemic | Enrichment | TTR | 2.49 |
| 96 | Atrophoderma vermiculata | Enrichment | LRP1 | 2.49 |
| 97 | Sea-blue histiocyte disease | Enrichment | APOE | 2.49 |
| 98 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.49 |
| 99 | Amyloidosis, hereditary systemic 1 | Enrichment | TTR | 2.49 |
| 100 | Hyperlipoproteinemia, type id | Enrichment | GPIHBP1 | 2.49 |
| 101 | Keratosis pilaris atrophicans | Enrichment | LRP1 | 2.49 |
| 102 | Donnai-barrow syndrome | Enrichment | LRP2 | 2.49 |
| 103 | Keipert syndrome | Enrichment | GPC4 | 2.49 |
| 104 | Tubulointerstitial kidney disease, autosomal dominant 6 | Enrichment | APOA4 | 2.49 |
| 105 | Apolipoprotein c-iii deficiency | Enrichment | APOC3 | 2.49 |
| 106 | Prolactin-producing pituitary gland adenoma | Enrichment | LRP2 | 2.49 |
| 107 | Amyloidosis | Enrichment | TTR | 2.49 |
| 108 | Hereditary amyloidosis | Enrichment | TTR | 2.49 |
| 109 | Attrv30m amyloidosis | Enrichment | TTR | 2.49 |
| 110 | Aapoaii amyloidosis | Enrichment | APOA2 | 2.49 |
| 111 | Attrv122i amyloidosis | Enrichment | TTR | 2.49 |
| 112 | Vitamin k-dependent clotting factors, combined deficiency of, 2 | Enrichment | VKORC1 | 2.45 |
| 113 | Schnyder corneal dystrophy | Enrichment | UBIAD1 | 2.45 |
| 114 | Congenital vitamin k-dependent coagulation factors deficiency | Enrichment | VKORC1 | 2.45 |
| 115 | Macular dystrophy with or without cone dysfunction | Enrichment | RDH12 | 2.42 |
| 116 | Retinal detachment | Enrichment | RHO | 2.39 |
| 117 | Albinism, oculocutaneous, type ii | Enrichment | PDE6B | 2.39 |
| 118 | Night blindness, congenital stationary, type 1c | Enrichment | GNAT1 | 2.39 |
| 119 | Night blindness | Enrichment | RHO | 2.39 |
| 120 | Mitochondrial dna depletion syndrome 4a | Enrichment | RLBP1 | 2.38 |
| 121 | Polr3-related leukodystrophy | Enrichment | GUCY2D | 2.35 |
| 122 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.29 |
| 123 | Long qt syndrome 14 | Enrichment | CALM1 | 2.29 |
| 124 | 2p21 microdeletion syndrome without cystinuria | Enrichment | CAMKMT | 2.29 |
| 125 | Coats disease | Enrichment | RHO | 2.25 |
| 126 | Achromatopsia | Enrichment | OPN1MW | 2.23 |
| 127 | Hypothyroidism | Enrichment | GNB1 | 2.19 |
| 128 | Apolipoprotein c-ii deficiency | Enrichment | APOC2 | 2.19 |
| 129 | Omodysplasia 1 | Enrichment | GPC6 | 2.19 |
| 130 | Alzheimer disease 3 | Enrichment | APOE | 2.19 |
| 131 | Mononeuropathy of the median nerve, mild | Enrichment | TTR | 2.19 |
| 132 | Lipase deficiency, combined | Enrichment | LPL | 2.19 |
| 133 | Schwartz-jampel syndrome, type 1 | Enrichment | HSPG2 | 2.19 |
| 134 | Hypobetalipoproteinemia, familial, 1 | Enrichment | APOB | 2.19 |
| 135 | Amyotrophic lateral sclerosis 28 | Enrichment | LRP12 | 2.19 |
| 136 | Developmental dysplasia of the hip 3 | Enrichment | LRP1 | 2.19 |
| 137 | Familial apolipoprotein c-ii deficiency | Enrichment | APOC2 | 2.19 |
| 138 | Hypobetalipoproteinemia | Enrichment | APOB | 2.19 |
| 139 | Hypoalphalipoproteinemia, primary, 2, intermediate | Enrichment | APOA1 | 2.19 |
| 140 | Amyloidosis, hereditary systemic 3 | Enrichment | APOA1 | 2.19 |
| 141 | Non-syndromic syndactyly | Enrichment | LRP2 | 2.19 |
| 142 | Hereditary combined deficiency of vitamin k-dependent clotting factors | Enrichment | VKORC1 | 2.15 |
| 143 | Retinal degeneration | Enrichment | RPE65 | 2.14 |
| 144 | 3-methylglutaconic aciduria, type iii | Enrichment | GUCY2D | 2.13 |
| 145 | Deafness, autosomal recessive 2 | Enrichment | MYO7A | 2.12 |
| 146 | Mandibulofacial dysostosis with impaired intellectual development | Enrichment | ABCA4 | 2.12 |
| 147 | Deafness, autosomal dominant 11 | Enrichment | MYO7A | 2.12 |
| 148 | Ichthyosis, congenital, autosomal recessive 13 | Enrichment | SDR9C7 | 2.12 |
| 149 | Usher syndrome type 1b | Enrichment | MYO7A | 2.12 |
| 150 | Atypical hypotonia-cystinuria syndrome | Enrichment | CAMKMT | 2.11 |
| 151 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 2.05 |
| 152 | Myelodysplastic syndrome | Enrichment | GNB1 | 2.05 |
| 153 | Hyperalphalipoproteinemia 1 | Enrichment | APOC3 | 2.01 |
| 154 | Dyssegmental dysplasia, silverman-handmaker type | Enrichment | HSPG2 | 2.01 |
| 155 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | LDLR | 2.01 |
| 156 | Alzheimer disease 4 | Enrichment | APOE | 2.01 |
| 157 | Hypercholesterolemia, familial, 4 | Enrichment | LDLR | 2.01 |
| 158 | 46,xy sex reversal 8 | Enrichment | AKR1C4 | 2.01 |
| 159 | Hypoalphalipoproteinemia, primary, 2 | Enrichment | APOA1 | 2.01 |
| 160 | Keratosis follicularis spinulosa decalvans | Enrichment | LRP1 | 2.01 |
| 161 | Syndromic x-linked intellectual disability najm type | Enrichment | LDLR | 2.01 |
| 162 | Spastic paraplegia 50, autosomal recessive | Enrichment | APOA1 | 2.01 |
| 163 | Macs syndrome | Enrichment | RBP4, STRA6 | 2.01 |
| 164 | 2p21 microdeletion syndrome | Enrichment | CAMKMT | 1.99 |
| 165 | Coumarin resistance | Enrichment | VKORC1 | 1.98 |
| 166 | Cataract | Enrichment | RHO | 1.95 |
| 167 | Microphthalmia | Enrichment | RBP4, STRA6 | 1.93 |
| 168 | Microphthalmia/coloboma 12 | Enrichment | RBP4 | 1.91 |
| 169 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.89 |
| 170 | Hypoalphalipoproteinemia, primary, 1 | Enrichment | APOA1 | 1.89 |
| 171 | Prolactinoma | Enrichment | LRP2 | 1.89 |
| 172 | Cleft palate, isolated | Enrichment | GNB1 | 1.86 |
| 173 | Coloboma of macula | Enrichment | RBP4 | 1.85 |
| 174 | Anterior segment dysgenesis | Enrichment | RBP4 | 1.85 |
| 175 | Stargardt disease 3 | Enrichment | ABCA4 | 1.82 |
| 176 | Cone-rod dystrophy 3 | Enrichment | ABCA4 | 1.82 |
| 177 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.81 |
| 178 | Alzheimer disease 2 | Enrichment | APOE | 1.79 |
| 179 | Amyloidosis, hereditary systemic 2 | Enrichment | APOA1 | 1.79 |
| 180 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 1.79 |
| 181 | Developmental dysplasia of the hip 1 | Enrichment | AKR1C1 | 1.71 |
| 182 | Cowden syndrome 1 | Enrichment | LDLR | 1.71 |
| 183 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.69 |
| 184 | Strabismus | Enrichment | GNB1 | 1.66 |
| 185 | Macular degeneration, age-related, 2 | Enrichment | ABCA4 | 1.65 |
| 186 | Retinitis pigmentosa 1 | Enrichment | ABCA4 | 1.65 |
| 187 | Microphthalmia, syndromic 9 | Enrichment | STRA6 | 1.65 |
| 188 | Retinitis pigmentosa 19 | Enrichment | ABCA4 | 1.65 |
| 189 | Age related macular degeneration | Enrichment | ABCA4 | 1.65 |
| 190 | Oculopharyngodistal myopathy 1 | Enrichment | LRP12 | 1.65 |
| 191 | Thrombophilia due to thrombin defect | Enrichment | VKORC1 | 1.61 |
| 192 | Dystonia | Enrichment | GNB1 | 1.55 |
| 193 | Retinitis pigmentosa 91 | Enrichment | ABCA4 | 1.53 |
| 194 | Choroideremia | Enrichment | CYP4V2 | 1.53 |
| 195 | Vitreoretinopathy | Enrichment | ABCA4 | 1.53 |
| 196 | Cerebral palsy | Enrichment | GNB1 | 1.51 |
| 197 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 1.50 |
| 198 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.45 |
| 199 | Macular degeneration | Enrichment | ABCA4 | 1.43 |
| 200 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.42 |
| 201 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1 | 1.40 |
| 202 | Alzheimer's disease | Enrichment | APOE | 1.38 |
| 203 | Chromosome 1p36 deletion syndrome | Enrichment | HSPG2 | 1.38 |
| 204 | Sudden infant death syndrome | Enrichment | CALM2 | 1.37 |
| 205 | Syndromic rod-cone dystrophy | Enrichment | ABCA4 | 1.35 |
| 206 | Congenital myasthenic syndrome | Enrichment | AGRN | 1.35 |
| 207 | Wilms tumor 1 | Enrichment | GPC3 | 1.32 |
| 208 | Meniere disease | Enrichment | MYO7A | 1.29 |
| 209 | Alzheimer disease, familial, 1 | Enrichment | APOE | 1.27 |
| 210 | Craniosynostosis | Enrichment | GPC4 | 1.20 |
| 211 | Cardiomyopathy, dilated, 1a | Enrichment | LPL | 1.18 |
| 212 | Myocardial infarction | Enrichment | LRP8 | 1.16 |
| 213 | Autism | Enrichment | RPE65 | 1.14 |
| 214 | Congenital nonbullous ichthyosiform erythroderma | Enrichment | SDR9C7 | 1.14 |
| 215 | Usher syndrome type 2 | Enrichment | MYO7A | 1.10 |
| 216 | Autism spectrum disorder | Enrichment | GNB1 | 1.07 |
| 217 | Microcephaly | Enrichment | GNB1 | 1.02 |
| 218 | Usher syndrome, type i | Enrichment | MYO7A | 0.97 |
| 219 | Autosomal recessive congenital ichthyosis | Enrichment | SDR9C7 | 0.97 |
| 220 | Charcot-marie-tooth disease | Enrichment | TTR | 0.90 |
| 221 | Congenital nervous system abnormality | Enrichment | GNB5 | 0.84 |
| 222 | Nervous system disease | Enrichment | GNB5 | 0.84 |
| 223 | Body mass index quantitative trait locus 11 | Enrichment | SDC3 | 0.82 |
| 224 | Ear malformation | Enrichment | MYO7A | 0.78 |
| 225 | Auditory neuropathy | Enrichment | MYO7A | 0.75 |
| 226 | Non-syndromic genetic deafness | Enrichment | MYO7A | 0.62 |
| 227 | Nonsyndromic hearing loss | Enrichment | MYO7A | 0.57 |
| 228 | Sensorineural hearing loss | Enrichment | MYO7A | 0.52 |
| 229 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MYO7A | 0.49 |
| 230 | Hereditary breast ovarian cancer syndrome | Enrichment | MYO7A | 0.47 |
| 231 | Deafness, autosomal recessive | Enrichment | MYO7A | 0.42 |
| 232 | Autosomal recessive nonsyndromic deafness | Enrichment | MYO7A | 0.42 |
| 233 | Rare genetic deafness | Enrichment | MYO7A | 0.35 |
| 234 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MYO7A | 0.31 |