| 1 | Autosomal dominant hypocalcemia | Enrichment | CASR, GNA11 | 4.07 |
| 2 | Phakomatosis cesioflammea | Enrichment | GNA11, GNAQ | 4.07 |
| 3 | Anastomosing haemangioma | Enrichment | GNA11, GNAQ | 3.59 |
| 4 | Capillary malformations, congenital | Enrichment | GNA11, GNAQ | 3.08 |
| 5 | Melanoma, uveal | Enrichment | GNA11, GNAQ | 2.90 |
| 6 | Myopathy, centronuclear, 1 | Enrichment | MTMR14, RYR1 | 2.90 |
| 7 | Hypertrophic cardiomyopathy | Enrichment | CASR, PLN, TNNI3 | 2.13 |
| 8 | Precocious puberty, central, 1 | Enrichment | KISS1R | 2.03 |
| 9 | Cataract 41 | Enrichment | WFS1 | 2.03 |
| 10 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.03 |
| 11 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.03 |
| 12 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.03 |
| 13 | Sea-blue histiocyte disease | Enrichment | APOE | 2.03 |
| 14 | Wolfram syndrome 1 | Enrichment | WFS1 | 2.03 |
| 15 | Deafness, autosomal dominant 6 | Enrichment | WFS1 | 2.03 |
| 16 | Hypocalcemia, autosomal dominant 1 | Enrichment | CASR | 2.03 |
| 17 | Cardiomyopathy, dilated, 2a | Enrichment | TNNI3 | 2.03 |
| 18 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.03 |
| 19 | Resting heart rate, variation in | Enrichment | ADRB1 | 2.03 |
| 20 | Hypocalciuric hypercalcemia, familial, type i | Enrichment | CASR | 2.03 |
| 21 | Cardiomyopathy, familial hypertrophic, 7 | Enrichment | TNNI3 | 2.03 |
| 22 | Amyloidosis, finnish type | Enrichment | GSN | 2.03 |
| 23 | Myopathy with extrapyramidal signs | Enrichment | MICU1 | 2.03 |
| 24 | Lipoprotein glomerulopathy | Enrichment | APOE | 2.03 |
| 25 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 2.03 |
| 26 | Hypogonadotropic hypogonadism 8 with or without anosmia | Enrichment | KISS1R | 2.03 |
| 27 | Corneal dystrophy, gelatinous drop-like | Enrichment | TACSTD2 | 2.03 |
| 28 | Wolfram-like syndrome, autosomal dominant | Enrichment | WFS1 | 2.03 |
| 29 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.03 |
| 30 | Hyperthyroxinemia, familial dysalbuminemic | Enrichment | ALB | 2.03 |
| 31 | Neuroocular syndrome 2, paroxysmal type | Enrichment | DAGLA | 2.03 |
| 32 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.03 |
| 33 | Sturge-weber syndrome | Enrichment | GNAQ | 2.03 |
| 34 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.03 |
| 35 | Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | Enrichment | CHKA | 2.03 |
| 36 | Congenital disorder of glycosylation, type iiz | Enrichment | CAMLG | 2.03 |
| 37 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.03 |
| 38 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.03 |
| 39 | Tubulointerstitial kidney disease, autosomal dominant 6 | Enrichment | APOA4 | 2.03 |
| 40 | Baker-gordon syndrome | Enrichment | SYT1 | 2.03 |
| 41 | Intellectual developmental disorder, x-linked, syndromic, wu type | Enrichment | GRIA3 | 2.03 |
| 42 | Delpire-mcneill syndrome | Enrichment | SLC12A2 | 2.03 |
| 43 | Retinitis pigmentosa 47 | Enrichment | SAG | 2.03 |
| 44 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.03 |
| 45 | Oguchi disease 1 | Enrichment | SAG | 2.03 |
| 46 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.03 |
| 47 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.03 |
| 48 | Familial apolipoprotein a5 deficiency | Enrichment | APOA5 | 2.03 |
| 49 | Immunodeficiency 10 | Enrichment | STIM1 | 2.03 |
| 50 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.03 |
| 51 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.03 |
| 52 | Epilepsy, idiopathic generalized 8 | Enrichment | CASR | 2.03 |
| 53 | Periodic fever, menstrual cycle-dependent | Enrichment | HTR1A | 2.03 |
| 54 | Olmsted syndrome 1 | Enrichment | TRPV3 | 2.03 |
| 55 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.03 |
| 56 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.03 |
| 57 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.03 |
| 58 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | Enrichment | GRIA2 | 2.03 |
| 59 | Deafness, autosomal dominant 78 | Enrichment | SLC12A2 | 2.03 |
| 60 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.03 |
| 61 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.03 |
| 62 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.03 |
| 63 | Neurodevelopmental disorder with or without seizures and gait abnormalities | Enrichment | GRIA4 | 2.03 |
| 64 | Kilquist syndrome | Enrichment | SLC12A2 | 2.03 |
| 65 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.03 |
| 66 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.03 |
| 67 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.03 |
| 68 | Palmoplantar keratoderma, nonepidermolytic, focal 2 | Enrichment | TRPV3 | 2.03 |
| 69 | Congenital analbuminemia | Enrichment | ALB | 2.03 |
| 70 | Short sleep, familial natural, 2 | Enrichment | ADRB1 | 2.03 |
| 71 | Retinitis pigmentosa 96 | Enrichment | SAG | 2.03 |
| 72 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.03 |
| 73 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.03 |
| 74 | Congenital myopathy with myasthenic-like onset | Enrichment | RYR1 | 2.03 |
| 75 | Analbuminemia | Enrichment | ALB | 2.03 |
| 76 | Syndromic x-linked intellectual disability 94 | Enrichment | GRIA3 | 2.03 |
| 77 | Rickets | Enrichment | VDR | 2.03 |
| 78 | Hypercalcemia | Enrichment | CASR | 2.03 |
| 79 | Rhabdomyolysis 2 | Enrichment | ATP2A2 | 2.03 |
| 80 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.03 |
| 81 | Wolfram-like syndrome | Enrichment | WFS1 | 2.03 |
| 82 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.03 |
| 83 | Familial hypocalciuric hypercalcemia | Enrichment | CASR | 2.03 |
| 84 | Aquagenic palmoplantar keratoderma | Enrichment | CFTR | 2.03 |
| 85 | Atherosclerosis | Enrichment | ALOX5 | 2.03 |
| 86 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.03 |
| 87 | Gria2-related neurodevelopmental disorder | Enrichment | GRIA2 | 2.03 |
| 88 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.03 |
| 89 | Grin2a-related disorders | Enrichment | GRIN2A | 2.03 |
| 90 | Gnao1-related disorder | Enrichment | GNAO1 | 2.03 |
| 91 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.03 |
| 92 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.03 |
| 93 | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | Enrichment | RYR1 | 2.03 |
| 94 | Wfs1 spectrum disorder | Enrichment | WFS1 | 2.03 |
| 95 | Benign samaritan congenital myopathy | Enrichment | RYR1 | 2.03 |
| 96 | Pancreatitis, hereditary | Enrichment | CASR, CFTR | 1.97 |
| 97 | Sudden infant death syndrome | Enrichment | PLN, TNNI3 | 1.97 |
| 98 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.73 |
| 99 | Malignant hyperthermia 1 | Enrichment | RYR1 | 1.73 |
| 100 | Cardiomyopathy, familial restrictive, 1 | Enrichment | TNNI3 | 1.73 |
| 101 | Acrokeratosis verruciformis | Enrichment | ATP2A2 | 1.73 |
| 102 | Hyperlipoproteinemia, type v | Enrichment | APOA5 | 1.73 |
| 103 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 1.73 |
| 104 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 1.73 |
| 105 | Hyperparathyroidism, neonatal severe | Enrichment | CASR | 1.73 |
| 106 | Spermatogenic failure, y-linked, 2 | Enrichment | CFTR | 1.73 |
| 107 | Stormorken syndrome | Enrichment | STIM1 | 1.73 |
| 108 | Alzheimer disease 3 | Enrichment | APOE | 1.73 |
| 109 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 1.73 |
| 110 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 1.73 |
| 111 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.73 |
| 112 | Cardiomyopathy, dilated, 1p | Enrichment | PLN | 1.73 |
| 113 | Neutrophilia, hereditary | Enrichment | PIP4K2B | 1.73 |
| 114 | Cardiomyopathy, familial hypertrophic, 25 | Enrichment | TNNI3 | 1.73 |
| 115 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.73 |
| 116 | Spondylometaphyseal dysplasia with cone-rod dystrophy | Enrichment | PCYT1A | 1.73 |
| 117 | Neutropenia, severe congenital, 7, autosomal recessive | Enrichment | PIP4K2B | 1.73 |
| 118 | Cardiomyopathy, familial hypertrophic, 18 | Enrichment | PLN | 1.73 |
| 119 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | Enrichment | TRPV3 | 1.73 |
| 120 | Cardiomyopathy, dilated, 1ff | Enrichment | TNNI3 | 1.73 |
| 121 | Long qt syndrome 14 | Enrichment | CALM1 | 1.73 |
| 122 | Oguchi disease 2 | Enrichment | SAG | 1.73 |
| 123 | Encephalopathy, acute, infection-induced 10 | Enrichment | TPT1 | 1.73 |
| 124 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 1.73 |
| 125 | Usher syndrome, type iv | Enrichment | PRKAR1A | 1.73 |
| 126 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 1.73 |
| 127 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 1.73 |
| 128 | Central precocious puberty | Enrichment | KISS1R | 1.73 |
| 129 | King-denborough syndrome | Enrichment | RYR1 | 1.73 |
| 130 | Acrodysostosis | Enrichment | PRKAR1A | 1.73 |
| 131 | Severe congenital neutropenia 7 | Enrichment | PIP4K2B | 1.73 |
| 132 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.73 |
| 133 | Wolfram syndrome | Enrichment | WFS1 | 1.73 |
| 134 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | PIP5K1A | 1.73 |
| 135 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 1.73 |
| 136 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | PIP4K2A | 1.73 |
| 137 | Hypoalphalipoproteinemia, primary, 2, intermediate | Enrichment | APOA1 | 1.73 |
| 138 | Exercise-induced malignant hyperthermia | Enrichment | RYR1 | 1.73 |
| 139 | Amyloidosis, hereditary systemic 3 | Enrichment | APOA1 | 1.73 |
| 140 | Lipodystrophy, congenital generalized, type 5 | Enrichment | PCYT1A | 1.73 |
| 141 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 1.73 |
| 142 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 1.73 |
| 143 | Oguchi disease | Enrichment | SAG | 1.73 |
| 144 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 1.73 |
| 145 | Congenital stationary night blindness | Enrichment | GNB3, SAG | 1.72 |
| 146 | Darier-white disease | Enrichment | ATP2A2 | 1.56 |
| 147 | Thrombocythemia 1 | Enrichment | CALR | 1.56 |
| 148 | Gillespie syndrome | Enrichment | ITPR1 | 1.56 |
| 149 | Niemann-pick disease, type a | Enrichment | SMPD1 | 1.56 |
| 150 | Nuchal bleb, familial | Enrichment | CFTR | 1.56 |
| 151 | Alzheimer disease 4 | Enrichment | APOE | 1.56 |
| 152 | Niemann-pick disease, type b | Enrichment | SMPD1 | 1.56 |
| 153 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.56 |
| 154 | Lipodystrophy, familial partial, type 4 | Enrichment | PLIN1 | 1.56 |
| 155 | Lynch syndrome 5 | Enrichment | RYR1 | 1.56 |
| 156 | Hypoalphalipoproteinemia, primary, 2 | Enrichment | APOA1 | 1.56 |
| 157 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 1.56 |
| 158 | Bronchopulmonary dysplasia | Enrichment | RYR1 | 1.56 |
| 159 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Enrichment | TRPV3 | 1.56 |
| 160 | Intrinsic cardiomyopathy | Enrichment | PLN | 1.56 |
| 161 | Familial isolated hypoparathyroidism | Enrichment | CASR | 1.56 |
| 162 | Precocious puberty, central, 2 | Enrichment | KISS1R | 1.56 |
| 163 | Parathyroid adenoma | Enrichment | CASR | 1.56 |
| 164 | Spastic paraplegia 50, autosomal recessive | Enrichment | APOA1 | 1.56 |
| 165 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | ALB | 1.44 |
| 166 | Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia | Enrichment | RYR1 | 1.44 |
| 167 | Hypertriglyceridemia 1 | Enrichment | APOA5 | 1.44 |
| 168 | Myopathy, centronuclear, 2 | Enrichment | RYR1 | 1.44 |
| 169 | Sacral defect with anterior meningocele | Enrichment | RYR1 | 1.44 |
| 170 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.44 |
| 171 | Budd-chiari syndrome | Enrichment | CALR | 1.44 |
| 172 | Hypoalphalipoproteinemia, primary, 1 | Enrichment | APOA1 | 1.44 |
| 173 | Carney complex variant | Enrichment | PRKAR1A | 1.44 |
| 174 | Myopathy, autophagic vacuolar, infantile-onset | Enrichment | STIM1 | 1.44 |
| 175 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.44 |
| 176 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.44 |
| 177 | Pregnancy loss, recurrent 3 | Enrichment | ANXA5 | 1.44 |
| 178 | Intellectual developmental disorder, autosomal dominant 26 | Enrichment | RYR1 | 1.44 |
| 179 | Hereditary ataxia | Enrichment | PRKCG | 1.44 |
| 180 | Congenital myopathy 1a | Enrichment | RYR1 | 1.44 |
| 181 | Idiopathic bronchiectasis | Enrichment | CFTR | 1.44 |
| 182 | Malignant hyperthermia | Enrichment | RYR1 | 1.44 |
| 183 | Primary hyperparathyroidism | Enrichment | CASR | 1.44 |
| 184 | Genetic central precocious puberty in male | Enrichment | KISS1R | 1.44 |
| 185 | Dystonia | Enrichment | CAMK2B, GRIA3 | 1.38 |
| 186 | Developmental and epileptic encephalopathy | Enrichment | GNAO1, GRIA3 | 1.36 |
| 187 | Alzheimer disease 2 | Enrichment | APOE | 1.34 |
| 188 | Amyloidosis, hereditary systemic 2 | Enrichment | APOA1 | 1.34 |
| 189 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.34 |
| 190 | Congenital myopathy 1b, autosomal recessive | Enrichment | RYR1 | 1.34 |
| 191 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.34 |
| 192 | Cardiac arrest | Enrichment | PLN | 1.34 |
| 193 | Niemann-pick disease | Enrichment | SMPD1 | 1.34 |
| 194 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ | 1.26 |
| 195 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.26 |
| 196 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.26 |
| 197 | Lipid metabolism disorder | Enrichment | APOE | 1.26 |
| 198 | Adrenocortical carcinoma | Enrichment | PRKAR1A | 1.26 |
| 199 | West syndrome | Enrichment | GNAO1, GRIA3 | 1.20 |
| 200 | Myelofibrosis | Enrichment | CALR | 1.20 |
| 201 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | WFS1 | 1.20 |
| 202 | Essential thrombocythemia | Enrichment | CALR | 1.20 |
| 203 | Familial isolated restrictive cardiomyopathy | Enrichment | TNNI3 | 1.20 |
| 204 | Myopathy, tubular aggregate, 1 | Enrichment | STIM1 | 1.14 |
| 205 | Multiple pterygium syndrome, lethal type | Enrichment | RYR1 | 1.14 |
| 206 | Congenital muscular dystrophy | Enrichment | RYR1 | 1.14 |
| 207 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.14 |
| 208 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1 | 1.14 |
| 209 | Myocarditis | Enrichment | TNNI3 | 1.14 |
| 210 | Choreatic disease | Enrichment | GNAO1 | 1.14 |
| 211 | Congenital nervous system abnormality | Enrichment | CAMK2B, GNAO1, MICU1 | 1.12 |
| 212 | Nervous system disease | Enrichment | CAMK2B, GNAO1, MICU1 | 1.12 |
| 213 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B | 1.10 |
| 214 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | TNNI3 | 1.09 |
| 215 | Bronchiectasis with or without elevated sweat chloride 1 | Enrichment | CFTR | 1.09 |
| 216 | Vas deferens, congenital bilateral aplasia of | Enrichment | CFTR | 1.09 |
| 217 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.09 |
| 218 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.09 |
| 219 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | PLN | 1.09 |
| 220 | Bilateral perisylvian polymicrogyria | Enrichment | WFS1 | 1.09 |
| 221 | Hypogonadotropic hypogonadism | Enrichment | KISS1R | 1.09 |
| 222 | Autosomal dominant cerebellar ataxia | Enrichment | DAGLA | 1.09 |
| 223 | Hydrops fetalis | Enrichment | RYR1 | 1.09 |
| 224 | Spastic ataxia | Enrichment | ITPR1, WFS1 | 1.06 |
| 225 | Familial isolated dilated cardiomyopathy | Enrichment | PLN, TNNI3 | 1.06 |
| 226 | Leukemia, chronic lymphocytic | Enrichment | P2RX7 | 1.05 |
| 227 | Stroke, ischemic | Enrichment | PRKCH | 1.05 |
| 228 | Asthma | Enrichment | ALOX5 | 1.01 |
| 229 | Movement disease | Enrichment | GNAO1 | 1.01 |
| 230 | Diabetes mellitus | Enrichment | WFS1 | 1.01 |
| 231 | Cardiac conduction defect | Enrichment | PLN | 0.97 |
| 232 | Restrictive cardiomyopathy | Enrichment | TNNI3 | 0.97 |
| 233 | Microcephaly | Enrichment | CAMK2B, CHKA, GNAO1 | 0.97 |
| 234 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | RYR1 | 0.94 |
| 235 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 0.94 |
| 236 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 0.94 |
| 237 | Alzheimer's disease | Enrichment | APOE | 0.94 |
| 238 | Clubfoot | Enrichment | RYR1 | 0.94 |
| 239 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 0.94 |
| 240 | Multiple sclerosis | Enrichment | ITPR1 | 0.91 |
| 241 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | KISS1R | 0.91 |
| 242 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | PLN | 0.91 |
| 243 | Pituitary stalk interruption syndrome | Enrichment | KISS1R | 0.91 |
| 244 | Hereditary chronic pancreatitis | Enrichment | CFTR | 0.91 |
| 245 | Congenital myopathy 4a, autosomal dominant | Enrichment | RYR1 | 0.88 |
| 246 | Anterior segment dysgenesis | Enrichment | ITPR1 | 0.88 |
| 247 | Familial hypercholesterolemia | Enrichment | APOE | 0.88 |
| 248 | Lynch syndrome | Enrichment | CFTR | 0.88 |
| 249 | Rare genetic intellectual disability | Enrichment | GNAO1 | 0.88 |
| 250 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | RYR1 | 0.86 |
| 251 | Alzheimer disease, familial, 1 | Enrichment | APOE | 0.83 |
| 252 | Hypertension, essential | Enrichment | GNB3 | 0.83 |
| 253 | Syndromic intellectual disability | Enrichment | SYT1 | 0.83 |
| 254 | Beckwith-wiedemann syndrome | Enrichment | RYR1 | 0.81 |
| 255 | Neuromuscular disease | Enrichment | RYR1 | 0.81 |
| 256 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.81 |
| 257 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | KISS1R | 0.81 |
| 258 | Early-onset nuclear cataract | Enrichment | WFS1 | 0.81 |
| 259 | Congenital myopathy | Enrichment | RYR1 | 0.79 |
| 260 | Dilated cardiomyopathy | Enrichment | PLN, TNNI3 | 0.77 |
| 261 | Cardiomyopathy, dilated, 1a | Enrichment | TNNI3 | 0.75 |
| 262 | Centronuclear myopathy | Enrichment | RYR1 | 0.75 |
| 263 | Hepatocellular carcinoma | Enrichment | VDR | 0.73 |
| 264 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | TNNI3 | 0.70 |
| 265 | Cone dystrophy | Enrichment | SAG | 0.70 |
| 266 | Scoliosis | Enrichment | RYR1 | 0.70 |
| 267 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1 | 0.68 |
| 268 | Long qt syndrome 1 | Enrichment | CALM1 | 0.61 |
| 269 | Long qt syndrome | Enrichment | CALM1 | 0.60 |
| 270 | Cystic fibrosis | Enrichment | CFTR | 0.59 |
| 271 | Familial hypertrophic cardiomyopathy | Enrichment | TNNI3 | 0.58 |
| 272 | Male infertility | Enrichment | CFTR | 0.57 |
| 273 | Left ventricular noncompaction | Enrichment | TNNI3 | 0.55 |
| 274 | Non-syndromic genetic deafness | Enrichment | WFS1 | 0.54 |
| 275 | Fetal akinesia deformation sequence 1 | Enrichment | RYR1 | 0.53 |
| 276 | Epilepsy | Enrichment | GRIN2A | 0.51 |
| 277 | Myopathy | Enrichment | RYR1 | 0.51 |
| 278 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN2A | 0.50 |
| 279 | Type 2 diabetes mellitus | Enrichment | WFS1 | 0.49 |
| 280 | Distal arthrogryposis | Enrichment | RYR1 | 0.49 |
| 281 | Nonsyndromic hearing loss | Enrichment | WFS1 | 0.49 |
| 282 | Centralopathic epilepsy | Enrichment | GRIN2A | 0.48 |
| 283 | Optic atrophy plus syndrome | Enrichment | WFS1 | 0.47 |
| 284 | Sensorineural hearing loss | Enrichment | SLC12A2 | 0.44 |
| 285 | Body mass index quantitative trait locus 11 | Enrichment | GRIA4 | 0.43 |
| 286 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | WFS1 | 0.41 |
| 287 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | CFTR | 0.39 |
| 288 | Autosomal recessive non-syndromic intellectual disability | Enrichment | CHKA | 0.38 |
| 289 | Autism | Enrichment | CAMK2G | 0.31 |
| 290 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.29 |
| 291 | Rare genetic deafness | Enrichment | WFS1 | 0.28 |
| 292 | Leber plus disease | Enrichment | PCYT1A | 0.23 |
| 293 | Complex neurodevelopmental disorder | Enrichment | GRIA4 | 0.16 |
| 294 | Inherited cancer-predisposing syndrome | Enrichment | PRKAR1A | 0.15 |
| 295 | Hereditary retinal dystrophy | Enrichment | SAG, WFS1 | 0.12 |
| 296 | Fundus dystrophy | Enrichment | SAG, WFS1 | 0.12 |
| 297 | Retinitis pigmentosa | Enrichment | SAG | 0.06 |