| 1 | Chronic granulomatous disease | Enrichment | CYBA, CYBB, NCF1, NCF2 | 6.15 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, MAP2K2, PPP1CB, RAF1 | 5.83 |
| 3 | Rasopathy | Enrichment | HRAS, MAP2K1, MAP2K2, PPP1CB, RAF1 | 5.55 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, MAP2K2, RAF1 | 5.13 |
| 5 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 4.44 |
| 6 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.27 |
| 7 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | MYH6, MYH7, MYLK2, RAF1 | 4.27 |
| 8 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2, MYH7, MYL2, MYL3 | 4.02 |
| 9 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3 | 3.87 |
| 10 | Granulomatous disease, chronic, autosomal recessive, 2 | Enrichment | NCF1, NCF2 | 3.64 |
| 11 | Hypertrophic cardiomyopathy | Enrichment | ACTN2, MYH7, MYL2, MYL3 | 3.56 |
| 12 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYH11, MYLK | 3.50 |
| 13 | Familial sick sinus syndrome | Enrichment | GNB2, MYH6 | 3.50 |
| 14 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 3.34 |
| 15 | Granulomatous disease, chronic, x-linked | Enrichment | CYBB, NCF1 | 3.34 |
| 16 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 3.34 |
| 17 | Visceral myopathy 1 | Enrichment | MYH11, MYLK | 3.28 |
| 18 | Microcephaly | Enrichment | ACTB, ACTG1, DIAPH1, GNAO1, GNB1, MAPK1 | 3.11 |
| 19 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 2.80 |
| 20 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYH11, MYLK | 2.73 |
| 21 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 2.68 |
| 22 | Long qt syndrome | Enrichment | CALM1, CALM2, MYH6 | 2.60 |
| 23 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | MYH7, NCF1 | 2.57 |
| 24 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 2.57 |
| 25 | Dilated cardiomyopathy | Enrichment | ACTN2, MYH6, MYH7, MYL2 | 2.54 |
| 26 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 2.48 |
| 27 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1 | 2.39 |
| 28 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYH11, MYLK | 2.34 |
| 29 | Congenital myopathy 4a, autosomal dominant | Enrichment | MYH7, MYL2 | 2.28 |
| 30 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, MYH14, MYH9 | 2.18 |
| 31 | Cardiomyopathy, dilated, 1e | Enrichment | MYH7, MYL2 | 2.17 |
| 32 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2, MYH6, MYH7 | 2.16 |
| 33 | Proteus syndrome | Enrichment | AKT1 | 2.13 |
| 34 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.13 |
| 35 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a | Enrichment | MYH3 | 2.13 |
| 36 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.13 |
| 37 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.13 |
| 38 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.13 |
| 39 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.13 |
| 40 | Cardiomyopathy, familial hypertrophic, 8 | Enrichment | MYL3 | 2.13 |
| 41 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.13 |
| 42 | Cardiac valvular dysplasia 1 | Enrichment | PLD1 | 2.13 |
| 43 | Cardiomyopathy, dilated, 1ee | Enrichment | MYH6 | 2.13 |
| 44 | Sick sinus syndrome 3 | Enrichment | MYH6 | 2.13 |
| 45 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.13 |
| 46 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.13 |
| 47 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.13 |
| 48 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.13 |
| 49 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.13 |
| 50 | Deafness, autosomal dominant 4a | Enrichment | MYH14 | 2.13 |
| 51 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.13 |
| 52 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.13 |
| 53 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.13 |
| 54 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | Enrichment | ARPC1B | 2.13 |
| 55 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.13 |
| 56 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.13 |
| 57 | Atrial fibrillation, familial, 18 | Enrichment | MYL4 | 2.13 |
| 58 | Nemaline myopathy 7 | Enrichment | CFL2 | 2.13 |
| 59 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.13 |
| 60 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.13 |
| 61 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.13 |
| 62 | Actn3 deficiency | Enrichment | ACTN3 | 2.13 |
| 63 | Becker nevus syndrome | Enrichment | ACTB | 2.13 |
| 64 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.13 |
| 65 | Cardiomyopathy, familial hypertrophic, 14 | Enrichment | MYH6 | 2.13 |
| 66 | Cowden syndrome 6 | Enrichment | AKT1 | 2.13 |
| 67 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.13 |
| 68 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | Enrichment | MYH14 | 2.13 |
| 69 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 2.13 |
| 70 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.13 |
| 71 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.13 |
| 72 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.13 |
| 73 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.13 |
| 74 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.13 |
| 75 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.13 |
| 76 | Congenital myopathy 14 | Enrichment | MYL1 | 2.13 |
| 77 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.13 |
| 78 | Whim syndrome 2 | Enrichment | CXCR2 | 2.13 |
| 79 | Baraitser-winter syndrome | Enrichment | ACTB | 2.13 |
| 80 | Capillary hemangioma | Enrichment | AKT3 | 2.13 |
| 81 | Aquagenic palmoplantar keratoderma | Enrichment | CFTR | 2.13 |
| 82 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.13 |
| 83 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.13 |
| 84 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.13 |
| 85 | Capillary leak syndrome | Enrichment | TLN1 | 2.13 |
| 86 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.13 |
| 87 | Autosomal recessive severe congenital neutropenia due to cxcr2 deficiency | Enrichment | CXCR2 | 2.13 |
| 88 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.13 |
| 89 | Gnao1-related disorder | Enrichment | GNAO1 | 2.13 |
| 90 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.13 |
| 91 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.13 |
| 92 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.13 |
| 93 | Heart, malformation of | Enrichment | MAPK1, MYH6 | 2.12 |
| 94 | Thrombocytopenia | Enrichment | MYH9, SRC, WAS | 2.06 |
| 95 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.05 |
| 96 | Granulomatous disease, chronic, autosomal recessive, 4 | Enrichment | CYBA | 2.05 |
| 97 | Thrombocytopenia 1 | Enrichment | WAS | 2.05 |
| 98 | Immunodeficiency 34 | Enrichment | CYBB | 2.05 |
| 99 | Noonan syndrome 5 | Enrichment | RAF1 | 2.05 |
| 100 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.05 |
| 101 | Deafness, autosomal dominant 1, with or without thrombocytopenia | Enrichment | DIAPH1 | 2.05 |
| 102 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.05 |
| 103 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.05 |
| 104 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 2.05 |
| 105 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.05 |
| 106 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.05 |
| 107 | Melorheostosis | Enrichment | MAP2K1 | 2.05 |
| 108 | Leopard syndrome 2 | Enrichment | RAF1 | 2.05 |
| 109 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.05 |
| 110 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.05 |
| 111 | Long qt syndrome 16 | Enrichment | CALM3 | 2.05 |
| 112 | Thrombocytopenia 6 | Enrichment | SRC | 2.05 |
| 113 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.05 |
| 114 | Was-related disorders | Enrichment | WAS | 2.05 |
| 115 | Seizures, cortical blindness, and microcephaly syndrome | Enrichment | DIAPH1 | 2.05 |
| 116 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.05 |
| 117 | Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | Enrichment | DIAPH1 | 2.05 |
| 118 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.05 |
| 119 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.05 |
| 120 | Trigonitis | Enrichment | RAF1 | 2.05 |
| 121 | Long qt syndrome 15 | Enrichment | CALM2 | 2.05 |
| 122 | Autoinflammation with pulmonary and cutaneous vasculitis | Enrichment | HCK | 2.05 |
| 123 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.05 |
| 124 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.05 |
| 125 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.05 |
| 126 | Human immunodeficiency virus type 1 | Enrichment | CCL11, CCL5 | 1.97 |
| 127 | Aortic aneurysm, familial thoracic 4 | Enrichment | MYH11 | 1.83 |
| 128 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.83 |
| 129 | Arthrogryposis, distal, type 2a | Enrichment | MYH3 | 1.83 |
| 130 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 1.83 |
| 131 | Spermatogenic failure, y-linked, 2 | Enrichment | CFTR | 1.83 |
| 132 | Ebstein anomaly | Enrichment | MYH7 | 1.83 |
| 133 | Cataract 35 | Enrichment | MYH9 | 1.83 |
| 134 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 1.83 |
| 135 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.83 |
| 136 | Arthrogryposis, distal, type 7 | Enrichment | MYH8 | 1.83 |
| 137 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.83 |
| 138 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.83 |
| 139 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.83 |
| 140 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.83 |
| 141 | Arthrogryposis, distal, type 2b3 | Enrichment | MYH3 | 1.83 |
| 142 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | Enrichment | MYH11 | 1.83 |
| 143 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 1.83 |
| 144 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.83 |
| 145 | Developmental delay, language impairment, and ocular abnormalities | Enrichment | ARPC4 | 1.83 |
| 146 | Atrial septal defect 3 | Enrichment | MYH6 | 1.83 |
| 147 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB | 1.83 |
| 148 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.83 |
| 149 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 1.83 |
| 150 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | PIP5K1A | 1.83 |
| 151 | Immunodeficiency 113 with autoimmunity and autoinflammation | Enrichment | ARPC5 | 1.83 |
| 152 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | Enrichment | MYH2 | 1.83 |
| 153 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 1.83 |
| 154 | Visceral myopathy 2 | Enrichment | MYH11 | 1.83 |
| 155 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 1.83 |
| 156 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.83 |
| 157 | Hypopituitarism | Enrichment | GNAI2 | 1.83 |
| 158 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.83 |
| 159 | Arthrogryposis, distal, type 1c | Enrichment | MYL11 | 1.83 |
| 160 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 1.83 |
| 161 | Immunodeficiency 133 | Enrichment | ARPC5 | 1.83 |
| 162 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Enrichment | MYH2 | 1.83 |
| 163 | Cerebral visual impairment | Enrichment | GNB1 | 1.83 |
| 164 | Carney complex - trismus - pseudocamptodactyly syndrome | Enrichment | MYH8 | 1.83 |
| 165 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.75 |
| 166 | Costello syndrome | Enrichment | HRAS | 1.75 |
| 167 | Granulomatous disease, chronic, autosomal recessive, 1 | Enrichment | NCF1 | 1.75 |
| 168 | Neutropenia, severe congenital, x-linked | Enrichment | WAS | 1.75 |
| 169 | Wiskott-aldrich syndrome | Enrichment | WAS | 1.75 |
| 170 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.75 |
| 171 | Long qt syndrome 14 | Enrichment | CALM1 | 1.75 |
| 172 | Tafro syndrome | Enrichment | MAP2K2 | 1.75 |
| 173 | Wooly hair nevus | Enrichment | HRAS | 1.75 |
| 174 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.66 |
| 175 | Nuchal bleb, familial | Enrichment | CFTR | 1.66 |
| 176 | Spondylocarpotarsal synostosis syndrome | Enrichment | MYH3 | 1.66 |
| 177 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.66 |
| 178 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | Enrichment | MYH15 | 1.66 |
| 179 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 1.66 |
| 180 | Qualitative or quantitative defects of beta-myosin heavy chain | Enrichment | MYH7 | 1.66 |
| 181 | Idiopathic camptocormia | Enrichment | MYH7 | 1.66 |
| 182 | Tricuspid valve insufficiency | Enrichment | MYH11 | 1.66 |
| 183 | Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia | Enrichment | CYBA | 1.58 |
| 184 | Gillespie syndrome | Enrichment | ITPR1 | 1.58 |
| 185 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.58 |
| 186 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.58 |
| 187 | Spermatocytoma | Enrichment | HRAS | 1.58 |
| 188 | Autoimmune polyendocrine syndrome type 1 | Enrichment | CYBA | 1.58 |
| 189 | Left ventricular noncompaction | Enrichment | ACTN2, MYH7 | 1.56 |
| 190 | Non-syndromic genetic deafness | Enrichment | ACTG1, MYH14 | 1.54 |
| 191 | Myopathy, distal, 1 | Enrichment | MYH7 | 1.54 |
| 192 | Congenital myopathy 7b, myosin storage, autosomal recessive | Enrichment | MYH7 | 1.54 |
| 193 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.54 |
| 194 | Auriculocondylar syndrome 1 | Enrichment | GNAI3 | 1.54 |
| 195 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.54 |
| 196 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3 | 1.54 |
| 197 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.54 |
| 198 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.54 |
| 199 | Carney complex variant | Enrichment | MYH8 | 1.54 |
| 200 | Congenital myopathy 7a, myosin storage, autosomal dominant | Enrichment | MYH7 | 1.54 |
| 201 | Congenital myopathy 6 with ophthalmoplegia | Enrichment | MYH2 | 1.54 |
| 202 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.54 |
| 203 | Achromatopsia 4 | Enrichment | GNAI3 | 1.54 |
| 204 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b | Enrichment | MYH3 | 1.54 |
| 205 | Hyaline body myopathy | Enrichment | MYH7 | 1.54 |
| 206 | Idiopathic bronchiectasis | Enrichment | CFTR | 1.54 |
| 207 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | MYH11 | 1.54 |
| 208 | Cerebral malaria | Enrichment | ICAM1 | 1.54 |
| 209 | Mitral valve insufficiency | Enrichment | MYH11 | 1.54 |
| 210 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.54 |
| 211 | Rare genetic deafness | Enrichment | ACTG1, DIAPH1, MYH9 | 1.48 |
| 212 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.46 |
| 213 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.46 |
| 214 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.46 |
| 215 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.46 |
| 216 | Epidermolytic nevus | Enrichment | HRAS | 1.46 |
| 217 | Myopathy | Enrichment | MYH2, MYH7 | 1.46 |
| 218 | Arthrogryposis, distal, type 2b1 | Enrichment | MYH3 | 1.44 |
| 219 | Congenital myopathy 3 with rigid spine | Enrichment | MYH7 | 1.44 |
| 220 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.44 |
| 221 | Congenital ptosis | Enrichment | MYH10 | 1.44 |
| 222 | Hemimegalencephaly | Enrichment | AKT3 | 1.44 |
| 223 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.44 |
| 224 | Distal arthrogryposis | Enrichment | MYH3, MYL11 | 1.42 |
| 225 | Nonsyndromic hearing loss | Enrichment | ACTG1, MYH14 | 1.42 |
| 226 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYH11, MYLK | 1.38 |
| 227 | Hemangioma, capillary infantile | Enrichment | MYH9 | 1.36 |
| 228 | Intestinal pseudo-obstruction | Enrichment | MYH11 | 1.36 |
| 229 | Breast adenocarcinoma | Enrichment | AKT1 | 1.36 |
| 230 | Inherited arrhythmogenic cardiomyopathy | Enrichment | MYH7 | 1.36 |
| 231 | Typical nemaline myopathy | Enrichment | CFL2 | 1.36 |
| 232 | Megacolon | Enrichment | AKT3 | 1.30 |
| 233 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2 | 1.30 |
| 234 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.28 |
| 235 | Moyamoya disease 1 | Enrichment | DIAPH1 | 1.28 |
| 236 | Pendred syndrome | Enrichment | DIAPH1 | 1.28 |
| 237 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.28 |
| 238 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.28 |
| 239 | Arthrogryposis, distal, type 1a | Enrichment | MYH3 | 1.24 |
| 240 | Hypothyroidism | Enrichment | GNB1 | 1.24 |
| 241 | Myocarditis | Enrichment | MYH7 | 1.24 |
| 242 | Choreatic disease | Enrichment | GNAO1 | 1.24 |
| 243 | Hypoplastic left heart syndrome | Enrichment | MYH6 | 1.24 |
| 244 | Nevus, epidermal | Enrichment | HRAS | 1.22 |
| 245 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.22 |
| 246 | Myelofibrosis | Enrichment | SRC | 1.22 |
| 247 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.22 |
| 248 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.22 |
| 249 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.22 |
| 250 | Bronchiectasis with or without elevated sweat chloride 1 | Enrichment | CFTR | 1.19 |
| 251 | Vas deferens, congenital bilateral aplasia of | Enrichment | CFTR | 1.19 |
| 252 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.19 |
| 253 | Cowden syndrome | Enrichment | AKT1 | 1.19 |
| 254 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | MYH7 | 1.19 |
| 255 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.16 |
| 256 | Cat eye syndrome | Enrichment | ACTG1 | 1.15 |
| 257 | Polymicrogyria | Enrichment | AKT3 | 1.15 |
| 258 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1 | 1.15 |
| 259 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.11 |
| 260 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.11 |
| 261 | Combined immunodeficiency | Enrichment | ARPC1B | 1.11 |
| 262 | Movement disease | Enrichment | GNAO1 | 1.11 |
| 263 | Combined t cell and b cell immunodeficiency | Enrichment | ARPC1B | 1.11 |
| 264 | Specific learning disability | Enrichment | MAPK1 | 1.11 |
| 265 | Combined t and b cell immunodeficiency | Enrichment | ARPC1B | 1.11 |
| 266 | Meningioma | Enrichment | AKT1 | 1.07 |
| 267 | Restrictive cardiomyopathy | Enrichment | MYH7 | 1.07 |
| 268 | Microphthalmia/coloboma 12 | Enrichment | MYH10 | 1.04 |
| 269 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.04 |
| 270 | Asthma | Enrichment | CCL11 | 1.03 |
| 271 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.03 |
| 272 | Complex neurodevelopmental disorder | Enrichment | GNB2, MYH10, TIAM1 | 1.01 |
| 273 | Heart disease | Enrichment | MYL2 | 1.01 |
| 274 | Hereditary chronic pancreatitis | Enrichment | CFTR | 1.01 |
| 275 | Lip and oral cavity carcinoma | Enrichment | HRAS | 0.99 |
| 276 | Congenital long qt syndrome | Enrichment | ITPR3 | 0.99 |
| 277 | Coloboma of macula | Enrichment | MYH10 | 0.98 |
| 278 | Myopia | Enrichment | MYH11 | 0.98 |
| 279 | Lynch syndrome | Enrichment | CFTR | 0.98 |
| 280 | Rare genetic intellectual disability | Enrichment | GNAO1 | 0.98 |
| 281 | Breast cancer | Enrichment | AKT1, GNG3 | 0.98 |
| 282 | Wolff-parkinson-white syndrome | Enrichment | MYH7 | 0.95 |
| 283 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2 | 0.95 |
| 284 | Hypertension | Enrichment | MYH9 | 0.95 |
| 285 | Multiple sclerosis | Enrichment | ITPR1 | 0.93 |
| 286 | Osteoporosis | Enrichment | SRC | 0.93 |
| 287 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 0.93 |
| 288 | Hypertension, essential | Enrichment | GNB3 | 0.93 |
| 289 | Pancreatitis, hereditary | Enrichment | CFTR | 0.93 |
| 290 | Cleft palate, isolated | Enrichment | GNB1 | 0.93 |
| 291 | Dandy-walker syndrome | Enrichment | PPP1CB | 0.93 |
| 292 | Neuromuscular disease | Enrichment | MYH7 | 0.90 |
| 293 | Patent foramen ovale | Enrichment | MYH6 | 0.90 |
| 294 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.90 |
| 295 | Anterior segment dysgenesis | Enrichment | ITPR1 | 0.90 |
| 296 | Congenital myopathy | Enrichment | MYH7 | 0.88 |
| 297 | Rhabdomyosarcoma | Enrichment | HRAS | 0.88 |
| 298 | Williams-beuren syndrome | Enrichment | LIMK1 | 0.86 |
| 299 | Sudden infant death syndrome | Enrichment | CALM2 | 0.85 |
| 300 | Lissencephaly | Enrichment | ACTG1 | 0.84 |
| 301 | Centronuclear myopathy | Enrichment | CFL2 | 0.84 |
| 302 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.82 |
| 303 | Malaria | Enrichment | ICAM1 | 0.81 |
| 304 | Congenital stationary night blindness | Enrichment | GNB3 | 0.81 |
| 305 | Familial atrial fibrillation | Enrichment | MYL4 | 0.79 |
| 306 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1 | 0.77 |
| 307 | Strabismus | Enrichment | GNB1 | 0.74 |
| 308 | Congenital nervous system abnormality | Enrichment | GNAO1, GNB5 | 0.74 |
| 309 | Nervous system disease | Enrichment | GNAO1, GNB5 | 0.74 |
| 310 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.69 |
| 311 | Auditory neuropathy | Enrichment | DIAPH1 | 0.69 |
| 312 | Cystic fibrosis | Enrichment | CFTR | 0.68 |
| 313 | Male infertility | Enrichment | CFTR | 0.65 |
| 314 | Cakut | Enrichment | ACTG1 | 0.65 |
| 315 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4 | 0.65 |
| 316 | Bladder cancer | Enrichment | HRAS | 0.64 |
| 317 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.64 |
| 318 | Dystonia | Enrichment | GNB1 | 0.64 |
| 319 | Developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.63 |
| 320 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.62 |
| 321 | Autism spectrum disorder | Enrichment | GNB1, MAP2K1 | 0.60 |
| 322 | Cerebral palsy | Enrichment | GNB1 | 0.60 |
| 323 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.57 |
| 324 | West syndrome | Enrichment | GNAO1 | 0.56 |
| 325 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.56 |
| 326 | Epilepsy | Enrichment | DIAPH1 | 0.52 |
| 327 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.51 |
| 328 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1 | 0.51 |
| 329 | Hypertelorism | Enrichment | MYH10 | 0.50 |
| 330 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | CFTR | 0.47 |
| 331 | Undetermined early-onset epileptic encephalopathy | Enrichment | LIMK1 | 0.47 |
| 332 | Deafness, autosomal recessive | Enrichment | MYH9 | 0.43 |
| 333 | Spastic ataxia | Enrichment | ITPR1 | 0.42 |
| 334 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9 | 0.42 |
| 335 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PFN1 | 0.39 |
| 336 | Colorectal cancer | Enrichment | AKT1 | 0.32 |
| 337 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MYH9 | 0.32 |
| 338 | Ovarian cancer | Enrichment | AKT1 | 0.28 |