| 1 | Brugada syndrome | Enrichment | CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SCNN1A | 11.72 |
| 2 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2 | 11.07 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 10.73 |
| 4 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2 | 10.70 |
| 5 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS | 9.69 |
| 6 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.22 |
| 7 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 8.22 |
| 8 | Developmental and epileptic encephalopathy | Enrichment | CACNA1E, CACNA2D2, GNAO1, SCN1A, SCN2A, SCN3A, SCN8A | 7.91 |
| 9 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 6.69 |
| 10 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA1A, CACNA1B, CACNA2D1, SCN1A, SCN1B, SCN3A, SCN8A | 6.52 |
| 11 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 6.39 |
| 12 | Liddle syndrome 1 | Enrichment | SCNN1A, SCNN1B, SCNN1G | 6.30 |
| 13 | Pseudohypoaldosteronism, type ib1, autosomal recessive | Enrichment | SCNN1A, SCNN1B, SCNN1G | 6.30 |
| 14 | Hereditary sodium channelopathy-related small fibers neuropathy | Enrichment | SCN10A, SCN11A, SCN9A | 6.30 |
| 15 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 6.16 |
| 16 | Dravet syndrome | Enrichment | SCN1A, SCN1B, SCN2A, SCN9A | 6.10 |
| 17 | Familial atrial fibrillation | Enrichment | SCN1B, SCN2B, SCN3B, SCN4B, SCN5A | 5.94 |
| 18 | Erythermalgia, primary | Enrichment | SCN10A, SCN11A, SCN9A | 5.70 |
| 19 | Idiopathic bronchiectasis | Enrichment | SCNN1A, SCNN1B, SCNN1G | 5.70 |
| 20 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.56 |
| 21 | Long qt syndrome 1 | Enrichment | CACNA1C, ITPR3, SCN10A, SCN4B, SCN5A | 5.43 |
| 22 | Generalized epilepsy with febrile seizures plus | Enrichment | SCN1A, SCN1B, SCN2A, SCN9A | 5.43 |
| 23 | Paroxysmal extreme pain disorder | Enrichment | SCN10A, SCN11A, SCN9A | 5.30 |
| 24 | Cone-rod dystrophy 6 | Enrichment | CACNA1F, CACNA2D4, GNAT2, GUCY2D | 4.83 |
| 25 | Brugada syndrome 1 | Enrichment | CACNA2D1, SCN10A, SCN5A | 4.76 |
| 26 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | SCN10A, SCN11A, SCN9A | 4.76 |
| 27 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1, SCN1A, SCN1B, SCN2A, SCN9A | 4.74 |
| 28 | Polydactyly, postaxial, type a1 | Enrichment | EP300, GLI1, GLI3, PTCH1 | 4.70 |
| 29 | Centralopathic epilepsy | Enrichment | PLCB1, SCN1A, SCN1B, SCN2A, SCN9A | 4.64 |
| 30 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 4.63 |
| 31 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 4.63 |
| 32 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 4.63 |
| 33 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 4.63 |
| 34 | West syndrome | Enrichment | GNAO1, PLCB1, SCN1A, SCN2A, SCN8A | 4.59 |
| 35 | Congenital stationary night blindness | Enrichment | CACNA1F, CACNA2D4, GNAT1, GNB3 | 4.51 |
| 36 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1, SCN1A, SCN2A | 4.39 |
| 37 | Primary hyperaldosteronism | Enrichment | BRAF, CACNA1H, GNAS | 4.25 |
| 38 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS, PRKAR1A | 4.19 |
| 39 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 4.11 |
| 40 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.10 |
| 41 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.10 |
| 42 | Cardiac conduction defect | Enrichment | CACNA1C, SCN1B, SCN5A | 3.98 |
| 43 | Ellis-van creveld syndrome | Enrichment | GLI1, PRKACA, PRKACB | 3.94 |
| 44 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 3.92 |
| 45 | Postaxial polydactyly type b | Enrichment | GLI1, GLI3 | 3.89 |
| 46 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, RRAS | 3.84 |
| 47 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, HRAS | 3.84 |
| 48 | Generalized epilepsy with febrile seizures plus, type 1 | Enrichment | SCN1A, SCN1B | 3.72 |
| 49 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Enrichment | CACNA1A, CACNA1C | 3.72 |
| 50 | Isolated growth hormone deficiency, type ib | Enrichment | GH1, GHRHR | 3.72 |
| 51 | Anastomosing haemangioma | Enrichment | GNA11, GNA14 | 3.72 |
| 52 | Hereditary episodic ataxia | Enrichment | CACNA1A, SCN2A | 3.72 |
| 53 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300, GNAO1 | 3.67 |
| 54 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, KRAS | 3.63 |
| 55 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11, PIK3R1 | 3.63 |
| 56 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.63 |
| 57 | Epilepsy | Enrichment | SCN1A, SCN2A, SCN3A, SCN8A | 3.54 |
| 58 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1, SCN1B, SCN2A | 3.42 |
| 59 | Auriculocondylar syndrome 1 | Enrichment | GNAI3, PLCB4 | 3.42 |
| 60 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | CACNA1C, SCN5A | 3.42 |
| 61 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1, SCN2A | 3.42 |
| 62 | Achromatopsia 4 | Enrichment | GNAI3, GNAT2 | 3.42 |
| 63 | Developmental and epileptic encephalopathy 52 | Enrichment | CACNA1A, SCN1B | 3.42 |
| 64 | Episodic ataxia | Enrichment | CACNA1A, SCN2A | 3.42 |
| 65 | Hereditary progressive cardiac conduction defect | Enrichment | SCN1B, SCN5A | 3.42 |
| 66 | Familial or sporadic hemiplegic migraine | Enrichment | CACNA1A, SCN1A | 3.42 |
| 67 | Familial sick sinus syndrome | Enrichment | GNB2, SCN5A | 3.42 |
| 68 | Long qt syndrome | Enrichment | CACNA1C, CACNA1S, CALM1, CALM2 | 3.40 |
| 69 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.33 |
| 70 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.33 |
| 71 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.33 |
| 72 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.33 |
| 73 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, KRAS | 3.22 |
| 74 | Heart conduction disease | Enrichment | CACNA1C, SCN5A | 3.20 |
| 75 | Cardiac arrest | Enrichment | CACNA2D1, SCN5A | 3.20 |
| 76 | Self-limited infantile epilepsy | Enrichment | SCN2A, SCN8A | 3.20 |
| 77 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CACNA1I, CACNG2, GNB1, SCN8A | 3.17 |
| 78 | Spastic ataxia | Enrichment | CACNA1G, CACNB4, ITPR1, SCN2A | 3.07 |
| 79 | Melanoma, uveal | Enrichment | GNA11, PLCB4 | 3.03 |
| 80 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S, SCN4A | 3.03 |
| 81 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.03 |
| 82 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.03 |
| 83 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1, SCN1A, SCN8A | 2.99 |
| 84 | Colorectal cancer | Enrichment | AKT1, BRAF, NRAS, PIK3R1, SRC | 2.97 |
| 85 | Breast adenocarcinoma | Enrichment | AKT1, KRAS | 2.94 |
| 86 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 2.94 |
| 87 | Focal epilepsy | Enrichment | SCN2A, SCN8A | 2.88 |
| 88 | Craniosynostosis | Enrichment | GLI2, GLI3, NPR2 | 2.85 |
| 89 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 2.79 |
| 90 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.79 |
| 91 | Gallbladder cancer | Enrichment | BRAF, KRAS | 2.79 |
| 92 | Lennox-gastaut syndrome | Enrichment | CACNA1A, SCN1A | 2.76 |
| 93 | Alternating hemiplegia of childhood | Enrichment | CACNA1A, SCN2A | 2.76 |
| 94 | Basal cell nevus syndrome 1 | Enrichment | PTCH1, PTCH2 | 2.73 |
| 95 | Basal cell carcinoma 1 | Enrichment | PTCH1, PTCH2 | 2.73 |
| 96 | Adrenocortical carcinoma | Enrichment | CDKN2A, PRKAR1A | 2.73 |
| 97 | Bladder cancer | Enrichment | EGFR, HRAS, KRAS | 2.67 |
| 98 | Cone dystrophy | Enrichment | CACNA2D4, GNAT2, GUCY2D | 2.61 |
| 99 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, BDNF, GNAS, POMC | 2.61 |
| 100 | Autism | Enrichment | CREBBP, SCN1A, SCN2A, SCN8A | 2.57 |
| 101 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 2.56 |
| 102 | Eye disease | Enrichment | CACNA1F, CACNA2D4, GNAT2 | 2.56 |
| 103 | Lung cancer | Enrichment | BRAF, EGFR, KRAS | 2.55 |
| 104 | Fetal akinesia deformation sequence 1 | Enrichment | SCN4A, SCN5A, SCN8A | 2.49 |
| 105 | Movement disease | Enrichment | GNAO1, SCN2A | 2.47 |
| 106 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 2.47 |
| 107 | Cerebral palsy | Enrichment | CACNA1A, CACNA1C, GNB1 | 2.43 |
| 108 | Congenital long qt syndrome | Enrichment | ITPR3, SCN5A | 2.40 |
| 109 | Breast cancer | Enrichment | AKT1, CACNA2D1, GNG3, KRAS | 2.35 |
| 110 | Distal arthrogryposis | Enrichment | SCN4A, SCN5A, SCN8A | 2.34 |
| 111 | Stroke, ischemic | Enrichment | NOS3, PRKCH | 2.27 |
| 112 | Melanoma | Enrichment | BRAF, CDKN2A | 2.27 |
| 113 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A, GNB1 | 2.18 |
| 114 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.09 |
| 115 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.09 |
| 116 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.09 |
| 117 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 2.09 |
| 118 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.09 |
| 119 | Epilepsy, idiopathic generalized 9 | Enrichment | CACNB4 | 2.09 |
| 120 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.09 |
| 121 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.09 |
| 122 | Brugada syndrome 5 | Enrichment | SCN1B | 2.09 |
| 123 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.09 |
| 124 | Bronchiectasis with or without elevated sweat chloride 2 | Enrichment | SCNN1A | 2.09 |
| 125 | Bronchiectasis with or without elevated sweat chloride 3 | Enrichment | SCNN1G | 2.09 |
| 126 | Nail disorder, nonsyndromic congenital, 3 | Enrichment | PLCD1 | 2.09 |
| 127 | Long qt syndrome 10 | Enrichment | SCN4B | 2.09 |
| 128 | Episodic pain syndrome, familial, 3 | Enrichment | SCN11A | 2.09 |
| 129 | Developmental and epileptic encephalopathy 11 | Enrichment | SCN2A | 2.09 |
| 130 | Neuropathy, hereditary sensory and autonomic, type vii | Enrichment | SCN11A | 2.09 |
| 131 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.09 |
| 132 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.09 |
| 133 | Episodic ataxia, type 5 | Enrichment | CACNB4 | 2.09 |
| 134 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.09 |
| 135 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.09 |
| 136 | Atrial fibrillation, familial, 14 | Enrichment | SCN2B | 2.09 |
| 137 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.09 |
| 138 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.09 |
| 139 | Pseudohypoaldosteronism, type ib2, autosomal recessive | Enrichment | SCNN1B | 2.09 |
| 140 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.09 |
| 141 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.09 |
| 142 | Neurodevelopmental disorder with speech impairment and with or without seizures | Enrichment | CACNA1I | 2.09 |
| 143 | Liddle syndrome 2 | Enrichment | SCNN1G | 2.09 |
| 144 | Congenital myopathy 18 | Enrichment | CACNA1S | 2.09 |
| 145 | Myoclonus, familial, 2 | Enrichment | SCN8A | 2.09 |
| 146 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.09 |
| 147 | Developmental and epileptic encephalopathy 62 | Enrichment | SCN3A | 2.09 |
| 148 | Liddle syndrome 3 | Enrichment | SCNN1A | 2.09 |
| 149 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.09 |
| 150 | Cone-rod dystrophy, x-linked, 3 | Enrichment | CACNA1F | 2.09 |
| 151 | Retinal cone dystrophy 4 | Enrichment | CACNA2D4 | 2.09 |
| 152 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.09 |
| 153 | Atrial fibrillation, familial, 13 | Enrichment | SCN1B | 2.09 |
| 154 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.09 |
| 155 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.09 |
| 156 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.09 |
| 157 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 2.09 |
| 158 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.09 |
| 159 | Brugada syndrome 3 | Enrichment | CACNA1C | 2.09 |
| 160 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.09 |
| 161 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 2.09 |
| 162 | Night blindness, congenital stationary, autosomal dominant 3 | Enrichment | GNAT1 | 2.09 |
| 163 | Episodic ataxia, type 9 | Enrichment | SCN2A | 2.09 |
| 164 | Intellectual developmental disorder, autosomal dominant 10 | Enrichment | CACNG2 | 2.09 |
| 165 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 2.09 |
| 166 | Episodic pain syndrome, familial, 2 | Enrichment | SCN10A | 2.09 |
| 167 | Dystonia 25 | Enrichment | GNAL | 2.09 |
| 168 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.09 |
| 169 | Night blindness, congenital stationary, type 1g | Enrichment | GNAT1 | 2.09 |
| 170 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.09 |
| 171 | Benign familial infantile epilepsy | Enrichment | SCN2A | 2.09 |
| 172 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.09 |
| 173 | Brugada syndrome 7 | Enrichment | SCN3B | 2.09 |
| 174 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 2.09 |
| 175 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.09 |
| 176 | Developmental and epileptic encephalopathy 110 | Enrichment | CACNA2D1 | 2.09 |
| 177 | Disorders of gnas inactivation | Enrichment | GNAS | 2.09 |
| 178 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.09 |
| 179 | Epilepsy, familial focal, with variable foci 4 | Enrichment | SCN3A | 2.09 |
| 180 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.09 |
| 181 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.09 |
| 182 | Developmental and epileptic encephalopathy 69 | Enrichment | CACNA1E | 2.09 |
| 183 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.09 |
| 184 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.09 |
| 185 | Isolated growth hormone deficiency, type iv | Enrichment | GHRHR | 2.09 |
| 186 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.09 |
| 187 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.09 |
| 188 | Muscular channelopathy | Enrichment | SCN4A | 2.09 |
| 189 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.09 |
| 190 | Pseudohypoaldosteronism, type ib3, autosomal recessive | Enrichment | SCNN1G | 2.09 |
| 191 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.09 |
| 192 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.09 |
| 193 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.09 |
| 194 | Conn's syndrome | Enrichment | CACNA1H | 2.09 |
| 195 | Sporadic hemiplegic migraine | Enrichment | CACNA1A | 2.09 |
| 196 | Atypical timothy syndrome | Enrichment | CACNA1C | 2.09 |
| 197 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 2.09 |
| 198 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.09 |
| 199 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.09 |
| 200 | Timothy syndrome type 2 | Enrichment | CACNA1C | 2.09 |
| 201 | Gnao1-related disorder | Enrichment | GNAO1 | 2.09 |
| 202 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 2.09 |
| 203 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.09 |
| 204 | Kaposiform hemangioendothelioma | Enrichment | GNA14 | 2.09 |
| 205 | Mazabraud syndrome | Enrichment | GNAS | 2.09 |
| 206 | Timothy syndrome type 1 | Enrichment | CACNA1C | 2.09 |
| 207 | Cacna1c-related disorders | Enrichment | CACNA1C | 2.09 |
| 208 | Benign paroxysmal torticollis of infancy | Enrichment | CACNA1A | 2.09 |
| 209 | Sudden infant death syndrome | Enrichment | SCN1A, SCN5A | 2.09 |
| 210 | Proteus syndrome | Enrichment | AKT1 | 2.05 |
| 211 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.05 |
| 212 | Oculoectodermal syndrome | Enrichment | KRAS | 2.05 |
| 213 | Pallister-killian syndrome | Enrichment | ARAF | 2.05 |
| 214 | Noonan syndrome 5 | Enrichment | RAF1 | 2.05 |
| 215 | Noonan syndrome 4 | Enrichment | SOS1 | 2.05 |
| 216 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.05 |
| 217 | Long qt syndrome 13 | Enrichment | KCNJ5 | 2.05 |
| 218 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.05 |
| 219 | Noonan syndrome 7 | Enrichment | BRAF | 2.05 |
| 220 | Leopard syndrome 3 | Enrichment | BRAF | 2.05 |
| 221 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.05 |
| 222 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.05 |
| 223 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.05 |
| 224 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.05 |
| 225 | Noonan syndrome 9 | Enrichment | SOS2 | 2.05 |
| 226 | Noonan syndrome 6 | Enrichment | NRAS | 2.05 |
| 227 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.05 |
| 228 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.05 |
| 229 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.05 |
| 230 | Noonan syndrome 11 | Enrichment | MRAS | 2.05 |
| 231 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.05 |
| 232 | Short syndrome | Enrichment | PIK3R1 | 2.05 |
| 233 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.05 |
| 234 | Isolated growth hormone deficiency type iii | Enrichment | BTK | 2.05 |
| 235 | Intellectual developmental disorder, x-linked 46 | Enrichment | ARHGEF6 | 2.05 |
| 236 | Hyperaldosteronism, familial, type iii | Enrichment | KCNJ5 | 2.05 |
| 237 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.05 |
| 238 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.05 |
| 239 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.05 |
| 240 | Lymphangioma | Enrichment | BRAF | 2.05 |
| 241 | Phace association | Enrichment | BRAF | 2.05 |
| 242 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.05 |
| 243 | Melorheostosis | Enrichment | MAP2K1 | 2.05 |
| 244 | Leopard syndrome 2 | Enrichment | RAF1 | 2.05 |
| 245 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.05 |
| 246 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.05 |
| 247 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.05 |
| 248 | Cowden syndrome 6 | Enrichment | AKT1 | 2.05 |
| 249 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.05 |
| 250 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.05 |
| 251 | Thrombocytopenia 6 | Enrichment | SRC | 2.05 |
| 252 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.05 |
| 253 | Trigonitis | Enrichment | RAF1 | 2.05 |
| 254 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.05 |
| 255 | Capillary hemangioma | Enrichment | AKT3 | 2.05 |
| 256 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.05 |
| 257 | Nocarh syndrome | Enrichment | CDC42 | 2.05 |
| 258 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.05 |
| 259 | Ganglioglioma | Enrichment | BRAF | 2.05 |
| 260 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.05 |
| 261 | Phace syndrome | Enrichment | BRAF | 2.05 |
| 262 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.05 |
| 263 | Classic hairy cell leukemia | Enrichment | BRAF | 2.05 |
| 264 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.05 |
| 265 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.05 |
| 266 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.05 |
| 267 | Congenital myopathy | Enrichment | CACNA1S, SCN4A | 2.00 |
| 268 | Congenital nervous system abnormality | Enrichment | CACNA1A, CREBBP, GNAO1, GNB5 | 1.98 |
| 269 | Nervous system disease | Enrichment | CACNA1A, CREBBP, GNAO1, GNB5 | 1.98 |
| 270 | Medulloblastoma | Enrichment | PTCH1, PTCH2 | 1.97 |
| 271 | Ichthyosis hystrix, curth-macklin type | Enrichment | KRT1 | 1.94 |
| 272 | Pallister-hall syndrome | Enrichment | GLI3 | 1.94 |
| 273 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 1.94 |
| 274 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 1.94 |
| 275 | Palmoplantar keratoderma, nonepidermolytic | Enrichment | KRT1 | 1.94 |
| 276 | Curry-jones syndrome | Enrichment | SMO | 1.94 |
| 277 | Schilbach-rott syndrome | Enrichment | PTCH1 | 1.94 |
| 278 | Polydactyly, preaxial iv | Enrichment | GLI3 | 1.94 |
| 279 | Polydactyly, preaxial i | Enrichment | GLI1 | 1.94 |
| 280 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 1.94 |
| 281 | Culler-jones syndrome | Enrichment | GLI2 | 1.94 |
| 282 | Ichthyosis, annular epidermolytic, 2 | Enrichment | KRT1 | 1.94 |
| 283 | Polydactyly, postaxial, type a8 | Enrichment | GLI1 | 1.94 |
| 284 | Hereditary lymphedema id | Enrichment | VEGFC | 1.94 |
| 285 | Night blindness, congenital stationary, type1i | Enrichment | GUCY2D | 1.94 |
| 286 | Lymphatic malformation 4 | Enrichment | VEGFC | 1.94 |
| 287 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 1.94 |
| 288 | Keratosis palmoplantaris striata iii | Enrichment | KRT1 | 1.94 |
| 289 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 1.94 |
| 290 | Coronary artery disease, autosomal dominant, 1 | Enrichment | MEF2A | 1.94 |
| 291 | Holoprosencephaly 9 | Enrichment | GLI2 | 1.94 |
| 292 | Moyamoya disease 6 with or without achalasia | Enrichment | GUCY1A1 | 1.94 |
| 293 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 1.94 |
| 294 | Long qt syndrome 16 | Enrichment | CALM3 | 1.94 |
| 295 | Moyamoya disease with early-onset achalasia | Enrichment | GUCY1A1 | 1.94 |
| 296 | Long qt syndrome 15 | Enrichment | CALM2 | 1.94 |
| 297 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 1.94 |
| 298 | Palmoplantar keratoderma, epidermolytic, 2 | Enrichment | KRT1 | 1.94 |
| 299 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 1.94 |
| 300 | Cerebral cavernous malformations 5 | Enrichment | MAP3K3 | 1.94 |
| 301 | Turner syndrome | Enrichment | PTCH1 | 1.94 |
| 302 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 1.94 |
| 303 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 1.94 |
| 304 | Monosomy 9q22.3 | Enrichment | PTCH1 | 1.94 |
| 305 | Mef2c-related disorder | Enrichment | MEF2C | 1.94 |
| 306 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 1.94 |
| 307 | Verrucous hemangioma | Enrichment | MAP3K3 | 1.94 |
| 308 | Septopreoptic holoprosencephaly | Enrichment | GLI2, PTCH1 | 1.91 |
| 309 | Midline interhemispheric variant of holoprosencephaly | Enrichment | GLI2, PTCH1 | 1.91 |
| 310 | Diffuse large b-cell lymphoma | Enrichment | BRAF, BTK | 1.91 |
| 311 | Ovarian cancer | Enrichment | AKT1, EGFR, KRAS, RRAS2 | 1.90 |
| 312 | Myeloma, multiple | Enrichment | BRAF, KRAS, PIK3R2 | 1.87 |
| 313 | Microform holoprosencephaly | Enrichment | GLI2, PTCH1 | 1.86 |
| 314 | Lobar holoprosencephaly | Enrichment | GLI2, PTCH1 | 1.86 |
| 315 | Centronuclear myopathy | Enrichment | CACNA1S, DNM2 | 1.83 |
| 316 | Hypertension, essential | Enrichment | GNB3, NOS3 | 1.81 |
| 317 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF, CDKN2A | 1.81 |
| 318 | Alobar holoprosencephaly | Enrichment | GLI2, PTCH1 | 1.81 |
| 319 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.80 |
| 320 | Atrial standstill 1 | Enrichment | SCN5A | 1.80 |
| 321 | Progressive familial heart block, type ia | Enrichment | SCN5A | 1.80 |
| 322 | Paramyotonia congenita | Enrichment | SCN4A | 1.80 |
| 323 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.80 |
| 324 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 1.80 |
| 325 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 1.80 |
| 326 | Batten-turner congenital myopathy | Enrichment | SCN4A | 1.80 |
| 327 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 1.80 |
| 328 | Thumb deformity | Enrichment | CREBBP | 1.80 |
| 329 | Indifference to pain, congenital, autosomal recessive | Enrichment | SCN9A | 1.80 |
| 330 | Polymyoclonus, infantile | Enrichment | SCNN1B | 1.80 |
| 331 | Timothy syndrome | Enrichment | CACNA1C | 1.80 |
| 332 | Night blindness, congenital stationary, type 2a | Enrichment | CACNA1F | 1.80 |
| 333 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.80 |
| 334 | Alternating hemiplegia of childhood 1 | Enrichment | CACNA1A | 1.80 |
| 335 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.80 |
| 336 | Seizures, benign familial infantile, 3 | Enrichment | SCN2A | 1.80 |
| 337 | Sick sinus syndrome 1 | Enrichment | SCN5A | 1.80 |
| 338 | Myotonia, potassium-aggravated | Enrichment | SCN4A | 1.80 |
| 339 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.80 |
| 340 | Angioma, tufted | Enrichment | GNA14 | 1.80 |
| 341 | Atrial fibrillation, familial, 10 | Enrichment | SCN5A | 1.80 |
| 342 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.80 |
| 343 | Spermatogenic failure 17 | Enrichment | PLCZ1 | 1.80 |
| 344 | Migraine, familial hemiplegic, 3 | Enrichment | SCN1A | 1.80 |
| 345 | Cognitive impairment with or without cerebellar ataxia | Enrichment | SCN8A | 1.80 |
| 346 | Long qt syndrome 3 | Enrichment | SCN5A | 1.80 |
| 347 | Long qt syndrome 8 | Enrichment | CACNA1C | 1.80 |
| 348 | Developmental and epileptic encephalopathy 6b | Enrichment | SCN1A | 1.80 |
| 349 | Sinoatrial node disease | Enrichment | SCN5A | 1.80 |
| 350 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 1.80 |
| 351 | Congenital myopathy 22a, classic | Enrichment | SCN4A | 1.80 |
| 352 | Congenital myopathy 22b, severe fetal | Enrichment | SCN4A | 1.80 |
| 353 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.80 |
| 354 | Usher syndrome, type iv | Enrichment | PRKAR1A | 1.80 |
| 355 | Kowarski syndrome | Enrichment | GH1 | 1.80 |
| 356 | Myasthenic syndrome, congenital, 16 | Enrichment | SCN4A | 1.80 |
| 357 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 1.80 |
| 358 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 1.80 |
| 359 | Acrodysostosis | Enrichment | PRKAR1A | 1.80 |
| 360 | Benign familial neonatal epilepsy | Enrichment | SCN2A | 1.80 |
| 361 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.80 |
| 362 | Developmental and epileptic encephalopathy 30 | Enrichment | SCN2A | 1.80 |
| 363 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 1.80 |
| 364 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.80 |
| 365 | Ocular melanoma | Enrichment | PLCB4 | 1.80 |
| 366 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 1.80 |
| 367 | Hypopituitarism | Enrichment | GNAI2 | 1.80 |
| 368 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 1.80 |
| 369 | Hypokalemic periodic paralysis, type 2 | Enrichment | SCN4A | 1.80 |
| 370 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.80 |
| 371 | Scn1a seizure disorders | Enrichment | SCN1A | 1.80 |
| 372 | Seizures, benign familial infantile, 5 | Enrichment | SCN8A | 1.80 |
| 373 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | Enrichment | CACNA1B | 1.80 |
| 374 | Malignant migrating partial seizures of infancy | Enrichment | SCN2A | 1.80 |
| 375 | Developmental and epileptic encephalopathy 76 | Enrichment | SCN1A | 1.80 |
| 376 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 1.80 |
| 377 | Short stature due to growth hormone qualitative anomaly | Enrichment | GH1 | 1.80 |
| 378 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.80 |
| 379 | Small fiber neuropathy | Enrichment | SCN9A | 1.80 |
| 380 | Benign neonatal seizures | Enrichment | SCN2A | 1.80 |
| 381 | Isolated atrial standstill | Enrichment | SCN5A | 1.80 |
| 382 | Pseudohypoaldosteronism | Enrichment | SCNN1A | 1.80 |
| 383 | Progressive bulbar palsy | Enrichment | CACNA1A | 1.80 |
| 384 | Cerebral visual impairment | Enrichment | GNB1 | 1.80 |
| 385 | Phakomatosis cesioflammea | Enrichment | GNA11 | 1.80 |
| 386 | Microcephaly | Enrichment | EP300, GNAO1, GNB1, SCN1A | 1.76 |
| 387 | Semilobar holoprosencephaly | Enrichment | GLI2, PTCH1 | 1.76 |
| 388 | Complex neurodevelopmental disorder | Enrichment | CACNA1C, GNB2, SCN2A, SCN8A | 1.75 |
| 389 | Andersen cardiodysrhythmic periodic paralysis | Enrichment | KCNJ5 | 1.75 |
| 390 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.75 |
| 391 | Costello syndrome | Enrichment | HRAS | 1.75 |
| 392 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.75 |
| 393 | Isolated growth hormone deficiency, type iii, with agammaglobulinemia | Enrichment | BTK | 1.75 |
| 394 | Keppen-lubinsky syndrome | Enrichment | KCNJ6 | 1.75 |
| 395 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.75 |
| 396 | Agammaglobulinemia, x-linked | Enrichment | BTK | 1.75 |
| 397 | Noonan syndrome 12 | Enrichment | RRAS2 | 1.75 |
| 398 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.75 |
| 399 | Immune system disease | Enrichment | CDC42 | 1.75 |
| 400 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.75 |
| 401 | Tafro syndrome | Enrichment | MAP2K2 | 1.75 |
| 402 | Wooly hair nevus | Enrichment | HRAS | 1.75 |
| 403 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | CACNA1C, RAF1 | 1.72 |
| 404 | Strabismus | Enrichment | CACNA1A, GNB1 | 1.71 |
| 405 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.65 |
| 406 | Pallister-hall-like syndrome | Enrichment | SMO | 1.65 |
| 407 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | KRT1 | 1.65 |
| 408 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.65 |
| 409 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.65 |
| 410 | White-sutton syndrome | Enrichment | GLI2 | 1.65 |
| 411 | Epiphyseal chondrodysplasia, miura type | Enrichment | NPR2 | 1.65 |
| 412 | Long qt syndrome 14 | Enrichment | CALM1 | 1.65 |
| 413 | Tibial hemimelia | Enrichment | GLI3 | 1.65 |
| 414 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.65 |
| 415 | Synpolydactyly | Enrichment | GLI3 | 1.65 |
| 416 | Acromesomelic dysplasia 1 | Enrichment | NPR2 | 1.65 |
| 417 | Commissural facial cleft | Enrichment | PTCH2 | 1.65 |
| 418 | Mccune-albright syndrome | Enrichment | GNAS | 1.62 |
| 419 | Dystonia 12 | Enrichment | SCN2A | 1.62 |
| 420 | Van der woude syndrome 1 | Enrichment | CACNA1E | 1.62 |
| 421 | Gillespie syndrome | Enrichment | ITPR1 | 1.62 |
| 422 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.62 |
| 423 | Generalized epilepsy with febrile seizures plus, type 2 | Enrichment | SCN1A | 1.62 |
| 424 | Developmental and epileptic encephalopathy 13 | Enrichment | SCN8A | 1.62 |
| 425 | Generalized epilepsy with febrile seizures plus, type 7 | Enrichment | SCN9A | 1.62 |
| 426 | Tremor, hereditary essential, 6 | Enrichment | SCN4A | 1.62 |
| 427 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.62 |
| 428 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.62 |
| 429 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.62 |
| 430 | Melanoma of soft tissue | Enrichment | CREB1 | 1.62 |
| 431 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 1.62 |
| 432 | Ataxia-telangiectasia | Enrichment | BRAF | 1.58 |
| 433 | Agammaglobulinemia 1, autosomal recessive | Enrichment | BTK | 1.58 |
| 434 | Nuchal bleb, familial | Enrichment | SOS1 | 1.58 |
| 435 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.58 |
| 436 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.58 |
| 437 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.58 |
| 438 | Agammaglobulinemia 1 | Enrichment | BTK | 1.58 |
| 439 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.58 |
| 440 | Spermatocytoma | Enrichment | HRAS | 1.58 |
| 441 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.58 |
| 442 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 1.51 |
| 443 | Migraine, familial hemiplegic, 1 | Enrichment | CACNA1A | 1.50 |
| 444 | Isolated growth hormone deficiency, type ii | Enrichment | GH1 | 1.50 |
| 445 | Spinocerebellar ataxia 6 | Enrichment | CACNA1A | 1.50 |
| 446 | Neuropathy, hereditary sensory and autonomic, type iia | Enrichment | SCN9A | 1.50 |
| 447 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.50 |
| 448 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.50 |
| 449 | Aland island eye disease | Enrichment | CACNA1F | 1.50 |
| 450 | Developmental and epileptic encephalopathy 2 | Enrichment | CACNA1A | 1.50 |
| 451 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.50 |
| 452 | Carney complex variant | Enrichment | PRKAR1A | 1.50 |
| 453 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.50 |
| 454 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.50 |
| 455 | Long qt syndrome 2 | Enrichment | SCN5A | 1.50 |
| 456 | Hyperkalemic periodic paralysis | Enrichment | SCN4A | 1.50 |
| 457 | Developmental and epileptic encephalopathy 42 | Enrichment | CACNA1A | 1.50 |
| 458 | Cerebellar atrophy with seizures and variable developmental delay | Enrichment | CACNA2D2 | 1.50 |
| 459 | Hereditary sensory and autonomic neuropathy type 2 | Enrichment | SCN9A | 1.50 |
| 460 | Atrial fibrillation | Enrichment | SCN5A | 1.50 |
| 461 | Sotos syndrome 1 | Enrichment | SCN4A | 1.50 |
| 462 | Malignant hyperthermia | Enrichment | CACNA1S | 1.50 |
| 463 | Sick sinus syndrome | Enrichment | SCN5A | 1.50 |
| 464 | Paroxysmal familial ventricular fibrillation | Enrichment | SCN5A | 1.50 |
| 465 | Dystonia | Enrichment | GNAL, GNB1 | 1.49 |
| 466 | Palmoplantar keratoderma, epidermolytic, 1 | Enrichment | KRT1 | 1.47 |
| 467 | Acrocallosal syndrome | Enrichment | GLI3 | 1.47 |
| 468 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 1.47 |
| 469 | Aarskog-scott syndrome | Enrichment | GLI3 | 1.47 |
| 470 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 1.47 |
| 471 | Ichthyosis with confetti | Enrichment | KRT1 | 1.47 |
| 472 | Holoprosencephaly 7 | Enrichment | PTCH1 | 1.47 |
| 473 | Ichthyosis, annular epidermolytic, 1 | Enrichment | KRT1 | 1.47 |
| 474 | Epilepsy, familial focal, with variable foci 2 | Enrichment | NPR2 | 1.47 |
| 475 | Umbilical hernia | Enrichment | GLI3 | 1.47 |
| 476 | Keratosis palmoplantaris striata | Enrichment | KRT1 | 1.47 |
| 477 | Polr3-related leukodystrophy | Enrichment | GUCY2D | 1.47 |
| 478 | Annular epidermolytic ichthyosis | Enrichment | KRT1 | 1.47 |
| 479 | Mpv17-related mitochondrial dna maintenance defect | Enrichment | UCN | 1.47 |
| 480 | Autosomal dominant epidermolytic ichthyosis | Enrichment | KRT1 | 1.47 |
| 481 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 1.47 |
| 482 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.45 |
| 483 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.45 |
| 484 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.45 |
| 485 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.45 |
| 486 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.45 |
| 487 | Hereditary ataxia | Enrichment | PRKCG | 1.45 |
| 488 | Craniopharyngioma | Enrichment | BRAF | 1.45 |
| 489 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.45 |
| 490 | Pilocytic astrocytoma | Enrichment | KRAS | 1.45 |
| 491 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.45 |
| 492 | Epidermolytic nevus | Enrichment | HRAS | 1.45 |
| 493 | Gingival fibromatosis | Enrichment | SOS1 | 1.45 |
| 494 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.45 |
| 495 | Capillary malformations, congenital | Enrichment | GNA11 | 1.40 |
| 496 | Sotos syndrome | Enrichment | SCN4A | 1.40 |
| 497 | Episodic ataxia, type 2 | Enrichment | CACNA1A | 1.40 |
| 498 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | SCN8A | 1.40 |
| 499 | Night blindness, congenital stationary, type 1c | Enrichment | GNAT1 | 1.40 |
| 500 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.40 |
| 501 | Amblyopia | Enrichment | CACNA1F | 1.40 |
| 502 | Congenital short qt syndrome | Enrichment | CACNA2D1 | 1.40 |
| 503 | Sensory peripheral neuropathy | Enrichment | SCN11A | 1.40 |
| 504 | Cone-rod dystrophy 2 | Enrichment | CACNA1F, CACNA2D4, GUCY2D | 1.38 |
| 505 | Hirschsprung disease 1 | Enrichment | GLI3, SMO | 1.37 |
| 506 | Hemimegalencephaly | Enrichment | AKT3 | 1.36 |
| 507 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.36 |
| 508 | Polydactyly, preaxial ii | Enrichment | PTCH1 | 1.35 |
| 509 | Mitochondrial dna depletion syndrome 6 | Enrichment | UCN | 1.35 |
| 510 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 1.35 |
| 511 | Short stature with nonspecific skeletal abnormalities 1 | Enrichment | NPR2 | 1.35 |
| 512 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.35 |
| 513 | Charcot-marie-tooth disease, axonal, type 2ee | Enrichment | UCN | 1.35 |
| 514 | Idiopathic achalasia | Enrichment | NOS1 | 1.35 |
| 515 | Epidermolytic hyperkeratosis | Enrichment | KRT1 | 1.35 |
| 516 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.33 |
| 517 | Pain disorder | Enrichment | SCN4A | 1.33 |
| 518 | Hypertrichosis | Enrichment | CREBBP | 1.33 |
| 519 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.33 |
| 520 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.31 |
| 521 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.28 |
| 522 | Cowden syndrome 1 | Enrichment | EGFR | 1.28 |
| 523 | Wilms tumor 5 | Enrichment | BRAF | 1.28 |
| 524 | Limited scleroderma | Enrichment | CAV1 | 1.28 |
| 525 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | SCN3A | 1.26 |
| 526 | Brachydactyly | Enrichment | GNAS | 1.26 |
| 527 | Alzheimer disease 2 | Enrichment | NOS3 | 1.26 |
| 528 | Epidermolytic hyperkeratosis 1 | Enrichment | KRT1 | 1.26 |
| 529 | Choroidal dystrophy, central areolar, 1 | Enrichment | GUCY2D | 1.26 |
| 530 | 3-methylglutaconic aciduria, type iii | Enrichment | GUCY2D | 1.26 |
| 531 | Pre-eclampsia | Enrichment | NOS3 | 1.26 |
| 532 | Histiocytoid hemangioma | Enrichment | FOS | 1.26 |
| 533 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS | 1.23 |
| 534 | Myelofibrosis | Enrichment | SRC | 1.22 |
| 535 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.22 |
| 536 | Megacolon | Enrichment | AKT3 | 1.22 |
| 537 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.22 |
| 538 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.20 |
| 539 | Isolated growth hormone deficiency, type ia | Enrichment | GH1 | 1.20 |
| 540 | Hypothyroidism | Enrichment | GNB1 | 1.20 |
| 541 | Choreatic disease | Enrichment | GNAO1 | 1.20 |
| 542 | Difference of sex development | Enrichment | CACNA1A | 1.20 |
| 543 | Li-fraumeni syndrome | Enrichment | CDKN2A | 1.18 |
| 544 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.18 |
| 545 | Moyamoya disease 1 | Enrichment | GUCY1A1 | 1.18 |
| 546 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.18 |
| 547 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.16 |
| 548 | Bronchiectasis with or without elevated sweat chloride 1 | Enrichment | SCNN1B | 1.15 |
| 549 | Nephrotic syndrome, type 1 | Enrichment | PLCE1 | 1.15 |
| 550 | Charge syndrome | Enrichment | EP300 | 1.15 |
| 551 | Myoclonic-atonic epilepsy | Enrichment | SCN1A | 1.15 |
| 552 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | CACNA1C | 1.15 |
| 553 | Bilateral perisylvian polymicrogyria | Enrichment | SCN3A | 1.15 |
| 554 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | SCN5A | 1.15 |
| 555 | Autosomal dominant sleep-related hypermotor epilepsy | Enrichment | CRH | 1.11 |
| 556 | Congenital hydrocephalus | Enrichment | PTCH1 | 1.11 |
| 557 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.11 |
| 558 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.11 |
| 559 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.11 |
| 560 | Ventricular septal defect | Enrichment | BRAF | 1.11 |
| 561 | Cowden syndrome | Enrichment | AKT1 | 1.11 |
| 562 | Polymicrogyria | Enrichment | SCN3A | 1.11 |
| 563 | Achromatopsia | Enrichment | GNAT2 | 1.11 |
| 564 | Migraine with or without aura 1 | Enrichment | CACNA1A | 1.07 |
| 565 | Epilepsy, myoclonic juvenile | Enrichment | CACNB4 | 1.07 |
| 566 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.07 |
| 567 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.07 |
| 568 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.07 |
| 569 | Leber congenital amaurosis 1 | Enrichment | GUCY2D | 1.06 |
| 570 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.06 |
| 571 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 1.06 |
| 572 | Optic atrophy plus syndrome | Enrichment | CACNA1F, GUCY2D | 1.05 |
| 573 | Postsynaptic congenital myasthenic syndromes | Enrichment | SCN4A | 1.03 |
| 574 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.03 |
| 575 | Specific learning disability | Enrichment | MAPK1 | 1.03 |
| 576 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 1.01 |
| 577 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.00 |
| 578 | Meningioma | Enrichment | AKT1 | 0.99 |
| 579 | Multiple sclerosis | Enrichment | ITPR1 | 0.97 |
| 580 | Heart disease | Enrichment | CREBBP | 0.97 |
| 581 | Aortic valve disease 1 | Enrichment | SOS1 | 0.96 |
| 582 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 0.96 |
| 583 | Protein-deficiency anemia | Enrichment | NRAS | 0.96 |
| 584 | Corpus callosum, agenesis of | Enrichment | CREBBP | 0.94 |
| 585 | Myopia | Enrichment | CACNA1F | 0.94 |
| 586 | Anterior segment dysgenesis | Enrichment | ITPR1 | 0.94 |
| 587 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 0.94 |
| 588 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 0.94 |
| 589 | Osteoporosis | Enrichment | SRC | 0.93 |
| 590 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.93 |
| 591 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 0.93 |
| 592 | Wolff-parkinson-white syndrome | Enrichment | SCN5A | 0.92 |
| 593 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | SCN5A | 0.92 |
| 594 | Wilms tumor 1 | Enrichment | BRAF | 0.90 |
| 595 | Lynch syndrome | Enrichment | KRAS | 0.90 |
| 596 | Autism spectrum disorder | Enrichment | GNB1, MAP2K1, MEF2C | 0.90 |
| 597 | Cleft palate, isolated | Enrichment | GNB1 | 0.89 |
| 598 | Cardiomyopathy, dilated, 1e | Enrichment | SCN5A | 0.89 |
| 599 | Rhabdomyosarcoma | Enrichment | HRAS | 0.87 |
| 600 | Gliosarcoma | Enrichment | EGFR | 0.87 |
| 601 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 0.86 |
| 602 | Dandy-walker syndrome | Enrichment | BRAF | 0.85 |
| 603 | Giant cell glioblastoma | Enrichment | EGFR | 0.85 |
| 604 | Heart, malformation of | Enrichment | MAPK1 | 0.83 |
| 605 | Focal segmental glomerulosclerosis | Enrichment | PLCE1 | 0.83 |
| 606 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 0.80 |
| 607 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.79 |
| 608 | Malaria | Enrichment | SCN8A | 0.77 |
| 609 | Scoliosis | Enrichment | CREBBP | 0.75 |
| 610 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 0.75 |
| 611 | Auditory neuropathy | Enrichment | CACNA1A | 0.72 |
| 612 | Inherited cancer-predisposing syndrome | Enrichment | CDKN2A, PRKAR1A, PTCH1 | 0.72 |
| 613 | Pancreatic cancer | Enrichment | KRAS | 0.70 |
| 614 | Macs syndrome | Enrichment | PTCH1 | 0.69 |
| 615 | Hereditary retinal dystrophy | Enrichment | CACNA1F, CACNA2D4, GNAT1, GNAT2 | 0.69 |
| 616 | Fundus dystrophy | Enrichment | CACNA1F, CACNA2D4, GNAT1, GNAT2 | 0.69 |
| 617 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.68 |
| 618 | Retinitis pigmentosa | Enrichment | CACNA1F, CACNA2D4, GNAT1, GUCY2D | 0.66 |
| 619 | Myocardial infarction | Enrichment | GUCY1A1 | 0.65 |
| 620 | Microphthalmia | Enrichment | PTCH1 | 0.65 |
| 621 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 0.64 |
| 622 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PLCE1 | 0.62 |
| 623 | Left ventricular noncompaction | Enrichment | SCN5A | 0.61 |
| 624 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.59 |
| 625 | Non-syndromic x-linked intellectual disability | Enrichment | ARHGEF6 | 0.56 |
| 626 | Myopathy | Enrichment | SCN4A | 0.56 |
| 627 | Nephrotic syndrome | Enrichment | PLCE1 | 0.53 |
| 628 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.51 |
| 629 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.50 |
| 630 | Gastric cancer | Enrichment | KRAS | 0.49 |
| 631 | Familial isolated dilated cardiomyopathy | Enrichment | SCN5A | 0.46 |
| 632 | Thrombocytopenia | Enrichment | SRC | 0.46 |
| 633 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.41 |
| 634 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.34 |
| 635 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GLI2 | 0.33 |
| 636 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.31 |
| 637 | Primary ovarian insufficiency | Enrichment | NOS3 | 0.31 |
| 638 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.29 |
| 639 | Leber plus disease | Enrichment | GUCY2D | 0.18 |