| 1 | Lissencephaly | Enrichment | ACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3 | 9.66 |
| 2 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 7.18 |
| 3 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 6.58 |
| 4 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 5.88 |
| 5 | Cakut | Enrichment | ACTG1, ROBO1, SLIT2, SRGAP1 | 4.81 |
| 6 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.78 |
| 7 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, YWHAZ | 4.00 |
| 8 | Microcephaly | Enrichment | ABL1, ACTB, ACTG1, CTNNB1, TUBB4A | 3.83 |
| 9 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.66 |
| 10 | Typical nemaline myopathy | Enrichment | ACTA1, CFL2 | 3.53 |
| 11 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 3.46 |
| 12 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 3.23 |
| 13 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBA8, TUBB1 | 3.13 |
| 14 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 3.12 |
| 15 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, RAF1 | 3.00 |
| 16 | Isolated congenital microcephaly | Enrichment | OCLN, TUBA3E | 2.71 |
| 17 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR | 2.71 |
| 18 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR | 2.63 |
| 19 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR | 2.49 |
| 20 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, RAF1 | 2.43 |
| 21 | Centronuclear myopathy | Enrichment | ACTA1, CFL2 | 2.40 |
| 22 | Skin creases, congenital symmetric circumferential, 1 | Enrichment | TUBB | 2.38 |
| 23 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 2.38 |
| 24 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.38 |
| 25 | Thrombocytopenia 1 | Enrichment | WAS | 2.38 |
| 26 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.38 |
| 27 | Legionnaire disease | Enrichment | TLR5 | 2.38 |
| 28 | Cortical dysplasia, complex, with other brain malformations 6 | Enrichment | TUBB | 2.38 |
| 29 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.38 |
| 30 | Neurodevelopmental disorder with midbrain and hindbrain malformations | Enrichment | ARHGEF2 | 2.38 |
| 31 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.38 |
| 32 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.38 |
| 33 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | Enrichment | ARPC1B | 2.38 |
| 34 | Systemic lupus erythematosus 1 | Enrichment | TLR5 | 2.38 |
| 35 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.38 |
| 36 | Becker nevus syndrome | Enrichment | ACTB | 2.38 |
| 37 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.38 |
| 38 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.38 |
| 39 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.38 |
| 40 | Melioidosis | Enrichment | TLR5 | 2.38 |
| 41 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.38 |
| 42 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.38 |
| 43 | Was-related disorders | Enrichment | WAS | 2.38 |
| 44 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.38 |
| 45 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.38 |
| 46 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.38 |
| 47 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.38 |
| 48 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.38 |
| 49 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 2.38 |
| 50 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.38 |
| 51 | Baraitser-winter syndrome | Enrichment | ACTB | 2.38 |
| 52 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.38 |
| 53 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.38 |
| 54 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.38 |
| 55 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.38 |
| 56 | Breast lobular carcinoma | Enrichment | CDH1 | 2.38 |
| 57 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 2.38 |
| 58 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.38 |
| 59 | Nocarh syndrome | Enrichment | CDC42 | 2.38 |
| 60 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.38 |
| 61 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.38 |
| 62 | Nystagmus 8, congenital, autosomal recessive | Enrichment | ROBO1 | 2.35 |
| 63 | Vesicoureteral reflux 2 | Enrichment | ROBO2 | 2.35 |
| 64 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.35 |
| 65 | Amyotrophic lateral sclerosis 18 | Enrichment | PFN1 | 2.35 |
| 66 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.35 |
| 67 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 2.35 |
| 68 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.35 |
| 69 | Parkinson-dementia syndrome | Enrichment | MAPT | 2.35 |
| 70 | Aortic valve disease 3 | Enrichment | ROBO4 | 2.35 |
| 71 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 2.35 |
| 72 | Nemaline myopathy 7 | Enrichment | CFL2 | 2.35 |
| 73 | Progressive supranuclear palsy | Enrichment | MAPT | 2.35 |
| 74 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.35 |
| 75 | Conjugate gaze palsy | Enrichment | ROBO3 | 2.35 |
| 76 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.35 |
| 77 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.35 |
| 78 | Thrombocytopenia 6 | Enrichment | SRC | 2.35 |
| 79 | Autosomal recessive congenital nystagmus | Enrichment | ROBO1 | 2.35 |
| 80 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.35 |
| 81 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.35 |
| 82 | Pituitary hormone deficiency, combined or isolated, 8 | Enrichment | ROBO1 | 2.35 |
| 83 | Neurooculorenal syndrome | Enrichment | ROBO1 | 2.35 |
| 84 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 2.35 |
| 85 | Zebra body myopathy | Enrichment | ACTA1 | 2.35 |
| 86 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.35 |
| 87 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.35 |
| 88 | Congenital nystagmus | Enrichment | ROBO1 | 2.35 |
| 89 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.35 |
| 90 | Dandy-walker syndrome | Enrichment | BRAF, TUBA1A | 2.32 |
| 91 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR | 2.23 |
| 92 | Noonan syndrome 5 | Enrichment | RAF1 | 2.21 |
| 93 | Noonan syndrome 7 | Enrichment | BRAF | 2.21 |
| 94 | Leopard syndrome 3 | Enrichment | BRAF | 2.21 |
| 95 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.21 |
| 96 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.21 |
| 97 | Lymphangioma | Enrichment | BRAF | 2.21 |
| 98 | Phace association | Enrichment | BRAF | 2.21 |
| 99 | Leopard syndrome 2 | Enrichment | RAF1 | 2.21 |
| 100 | Hypogonadotropic hypogonadism 16 with or without anosmia | Enrichment | SEMA3A | 2.21 |
| 101 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.21 |
| 102 | Trigonitis | Enrichment | RAF1 | 2.21 |
| 103 | Dworschak-punetha neurodevelopmental syndrome | Enrichment | PLXNA1 | 2.21 |
| 104 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.21 |
| 105 | Ganglioglioma | Enrichment | BRAF | 2.21 |
| 106 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.21 |
| 107 | Phace syndrome | Enrichment | BRAF | 2.21 |
| 108 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.21 |
| 109 | Classic hairy cell leukemia | Enrichment | BRAF | 2.21 |
| 110 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 2.08 |
| 111 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 2.08 |
| 112 | Neutropenia, severe congenital, x-linked | Enrichment | WAS | 2.08 |
| 113 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.08 |
| 114 | Wiskott-aldrich syndrome | Enrichment | WAS | 2.08 |
| 115 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 2.08 |
| 116 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.08 |
| 117 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.08 |
| 118 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 2.08 |
| 119 | Developmental delay, language impairment, and ocular abnormalities | Enrichment | ARPC4 | 2.08 |
| 120 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.08 |
| 121 | Keratoconus 9 | Enrichment | TUBA3D | 2.08 |
| 122 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 2.08 |
| 123 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.08 |
| 124 | Lissencephaly 3 | Enrichment | TUBA1A | 2.08 |
| 125 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 2.08 |
| 126 | Immunodeficiency 113 with autoimmunity and autoinflammation | Enrichment | ARPC5 | 2.08 |
| 127 | Immune system disease | Enrichment | CDC42 | 2.08 |
| 128 | Torsion dystonia 4 | Enrichment | TUBB4A | 2.08 |
| 129 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.08 |
| 130 | Multiple benign circumferential skin creases on limbs | Enrichment | TUBB | 2.08 |
| 131 | Immunodeficiency 133 | Enrichment | ARPC5 | 2.08 |
| 132 | Teratoma | Enrichment | CTNNB1 | 2.08 |
| 133 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 2.08 |
| 134 | Noonan syndrome 1 | Enrichment | BRAF, RAF1 | 2.07 |
| 135 | Gaze palsy, familial horizontal, with progressive scoliosis 1 | Enrichment | ROBO3 | 2.05 |
| 136 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.05 |
| 137 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.05 |
| 138 | Pick disease of brain | Enrichment | MAPT | 2.05 |
| 139 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.05 |
| 140 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.05 |
| 141 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.05 |
| 142 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.05 |
| 143 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.05 |
| 144 | Horizontal gaze palsy with progressive scoliosis | Enrichment | ROBO3 | 2.05 |
| 145 | Intestinal obstruction | Enrichment | ACTG2 | 2.05 |
| 146 | Congenital nervous system abnormality | Enrichment | CTNNB1, TUBA1A, TUBB4A | 2.02 |
| 147 | Nervous system disease | Enrichment | CTNNB1, TUBA1A, TUBB4A | 2.02 |
| 148 | Rasopathy | Enrichment | BRAF, RAF1 | 1.96 |
| 149 | Cerebral palsy | Enrichment | TUBA1A, TUBB4A | 1.95 |
| 150 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1, TUBA1A | 1.92 |
| 151 | Pulmonic stenosis | Enrichment | BRAF | 1.91 |
| 152 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.91 |
| 153 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.91 |
| 154 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 1.91 |
| 155 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 1.91 |
| 156 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.91 |
| 157 | Oocyte/zygote/embryo maturation arrest 2 | Enrichment | TUBB8 | 1.91 |
| 158 | Anus, imperforate | Enrichment | CTNNB1 | 1.91 |
| 159 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 1.91 |
| 160 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.91 |
| 161 | Desmoid tumor | Enrichment | CTNNB1 | 1.91 |
| 162 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.91 |
| 163 | Cryptogenic cirrhosis | Enrichment | KRT18 | 1.91 |
| 164 | Familial vesicoureteral reflux | Enrichment | ROBO2 | 1.87 |
| 165 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1 | 1.82 |
| 166 | Lung cancer | Enrichment | BRAF, EGFR | 1.79 |
| 167 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.78 |
| 168 | Pilomatrixoma | Enrichment | CTNNB1 | 1.78 |
| 169 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.78 |
| 170 | Alazami syndrome | Enrichment | CTNNB1 | 1.78 |
| 171 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.78 |
| 172 | Craniopharyngioma | Enrichment | CTNNB1 | 1.78 |
| 173 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.78 |
| 174 | Thrombocytopenia | Enrichment | TUBB1, WAS | 1.78 |
| 175 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.75 |
| 176 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.75 |
| 177 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.75 |
| 178 | Amyotrophy, monomelic | Enrichment | SLIT1 | 1.75 |
| 179 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.75 |
| 180 | Ataxia-telangiectasia | Enrichment | BRAF | 1.74 |
| 181 | Langerhans cell histiocytosis | Enrichment | BRAF | 1.74 |
| 182 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.74 |
| 183 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.74 |
| 184 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.74 |
| 185 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.69 |
| 186 | Female infertility due to oocyte meiotic arrest | Enrichment | TUBB8 | 1.69 |
| 187 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.69 |
| 188 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.65 |
| 189 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.65 |
| 190 | Dementia | Enrichment | MAPT | 1.65 |
| 191 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.65 |
| 192 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF | 1.62 |
| 193 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.62 |
| 194 | Cardiofaciocutaneous syndrome | Enrichment | BRAF | 1.62 |
| 195 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.62 |
| 196 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.61 |
| 197 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.61 |
| 198 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.61 |
| 199 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.61 |
| 200 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.61 |
| 201 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.61 |
| 202 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.57 |
| 203 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.57 |
| 204 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT, PFN1 | 1.55 |
| 205 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.54 |
| 206 | Gallbladder cancer | Enrichment | CTNNB1 | 1.54 |
| 207 | Moyamoya angiopathy | Enrichment | ABL1 | 1.54 |
| 208 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.54 |
| 209 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.52 |
| 210 | Cholangitis, primary sclerosing | Enrichment | SEMA4D | 1.52 |
| 211 | Aniridia | Enrichment | EPHA2 | 1.52 |
| 212 | Thyroid cancer, nonmedullary, 2 | Enrichment | SRGAP1 | 1.51 |
| 213 | Myelofibrosis | Enrichment | SRC | 1.51 |
| 214 | Semantic dementia | Enrichment | MAPT | 1.51 |
| 215 | Follicular thyroid carcinoma | Enrichment | SRGAP1 | 1.51 |
| 216 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.51 |
| 217 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.49 |
| 218 | Cryptorchidism | Enrichment | TUBA1A | 1.49 |
| 219 | Cowden syndrome 1 | Enrichment | EGFR | 1.44 |
| 220 | Wilms tumor 5 | Enrichment | BRAF | 1.44 |
| 221 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.44 |
| 222 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.44 |
| 223 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.44 |
| 224 | Progressive non-fluent aphasia | Enrichment | MAPT | 1.40 |
| 225 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT | 1.40 |
| 226 | Renal agenesis, bilateral | Enrichment | ROBO1 | 1.40 |
| 227 | Cat eye syndrome | Enrichment | ACTG1 | 1.39 |
| 228 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.38 |
| 229 | Noonan syndrome 3 | Enrichment | RAF1 | 1.38 |
| 230 | Nemaline myopathy | Enrichment | ACTA1 | 1.36 |
| 231 | Combined immunodeficiency | Enrichment | ARPC1B | 1.35 |
| 232 | Combined t cell and b cell immunodeficiency | Enrichment | ARPC1B | 1.35 |
| 233 | Combined t and b cell immunodeficiency | Enrichment | ARPC1B | 1.35 |
| 234 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.32 |
| 235 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.32 |
| 236 | Frontotemporal dementia 1 | Enrichment | MAPT | 1.32 |
| 237 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.31 |
| 238 | Colorectal cancer | Enrichment | CDH1, CTNNB1 | 1.30 |
| 239 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1 | 1.30 |
| 240 | Neural tube defects | Enrichment | ITGB1 | 1.28 |
| 241 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.27 |
| 242 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.27 |
| 243 | Primary hyperaldosteronism | Enrichment | BRAF | 1.27 |
| 244 | Ventricular septal defect | Enrichment | BRAF | 1.27 |
| 245 | Medulloblastoma | Enrichment | CTNNB1 | 1.25 |
| 246 | Heart disease | Enrichment | ABL1 | 1.25 |
| 247 | Cleft lip/palate | Enrichment | CDH1 | 1.25 |
| 248 | Aortic valve disease 1 | Enrichment | ROBO4 | 1.24 |
| 249 | Diaphragmatic hernia, congenital | Enrichment | ROBO4 | 1.24 |
| 250 | Alzheimer's disease | Enrichment | MAPT | 1.24 |
| 251 | Melanoma | Enrichment | BRAF | 1.23 |
| 252 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.22 |
| 253 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.22 |
| 254 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.22 |
| 255 | Osteoporosis | Enrichment | SRC | 1.21 |
| 256 | Aortic aneurysm, familial thoracic 1 | Enrichment | ROBO4 | 1.21 |
| 257 | Pituitary stalk interruption syndrome | Enrichment | ROBO1 | 1.21 |
| 258 | Hydrocephalus, congenital, 1 | Enrichment | TUBB | 1.19 |
| 259 | Ovarian cancer | Enrichment | CDH1, CTNNB1 | 1.19 |
| 260 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.18 |
| 261 | Polycystic liver disease | Enrichment | CTNNB1 | 1.17 |
| 262 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.17 |
| 263 | Alzheimer disease, familial, 1 | Enrichment | MAPT | 1.13 |
| 264 | Behcet syndrome | Enrichment | TLR4 | 1.12 |
| 265 | Neuromuscular disease | Enrichment | ACTA1 | 1.11 |
| 266 | Patent foramen ovale | Enrichment | ACTC1 | 1.11 |
| 267 | Congenital myopathy | Enrichment | ACTA1 | 1.09 |
| 268 | Cataract | Enrichment | EPHA2 | 1.08 |
| 269 | Endometrial cancer | Enrichment | CDH1 | 1.08 |
| 270 | Hepatoblastoma | Enrichment | CTNNB1 | 1.08 |
| 271 | Williams-beuren syndrome | Enrichment | LIMK1 | 1.06 |
| 272 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.06 |
| 273 | Wilms tumor 1 | Enrichment | BRAF | 1.06 |
| 274 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.04 |
| 275 | Gliosarcoma | Enrichment | EGFR | 1.03 |
| 276 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 1.00 |
| 277 | Cataract 44 | Enrichment | EPHA2 | 1.00 |
| 278 | Giant cell glioblastoma | Enrichment | EGFR | 1.00 |
| 279 | Auditory neuropathy | Enrichment | TUBB4A | 0.99 |
| 280 | Parkinson disease, late-onset | Enrichment | MAPT | 0.99 |
| 281 | Early-onset nuclear cataract | Enrichment | EPHA2 | 0.98 |
| 282 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 0.96 |
| 283 | Tetralogy of fallot | Enrichment | ROBO1 | 0.96 |
| 284 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 0.96 |
| 285 | Bladder cancer | Enrichment | CTNNB1 | 0.95 |
| 286 | Prostate cancer | Enrichment | CDH1 | 0.95 |
| 287 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.88 |
| 288 | Kallmann syndrome | Enrichment | SEMA3A | 0.88 |
| 289 | Connective tissue disease | Enrichment | ACTA2 | 0.87 |
| 290 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.86 |
| 291 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1 | 0.86 |
| 292 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.86 |
| 293 | Left ventricular noncompaction | Enrichment | ACTC1 | 0.84 |
| 294 | Brugada syndrome | Enrichment | SEMA3A | 0.83 |
| 295 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.80 |
| 296 | Gastric cancer | Enrichment | CDH1 | 0.79 |
| 297 | Differentiated thyroid carcinoma | Enrichment | BRAF | 0.79 |
| 298 | Myopathy | Enrichment | ACTA1 | 0.78 |
| 299 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.78 |
| 300 | West syndrome | Enrichment | TUBA1A | 0.78 |
| 301 | Hereditary breast carcinoma | Enrichment | CDH1 | 0.78 |
| 302 | Complex neurodevelopmental disorder | Enrichment | PLXNA1, TIAM1 | 0.76 |
| 303 | Hypertrophic cardiomyopathy | Enrichment | ACTC1 | 0.75 |
| 304 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.74 |
| 305 | Autosomal dominant non-syndromic intellectual disability | Enrichment | YWHAZ | 0.73 |
| 306 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.71 |
| 307 | Spastic ataxia | Enrichment | TUBB3 | 0.71 |
| 308 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1 | 0.67 |
| 309 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.67 |
| 310 | Undetermined early-onset epileptic encephalopathy | Enrichment | LIMK1 | 0.65 |
| 311 | Body mass index quantitative trait locus 11 | Enrichment | SDC3 | 0.58 |
| 312 | Breast cancer | Enrichment | CDH1 | 0.57 |
| 313 | Rare genetic deafness | Enrichment | ACTG1 | 0.55 |
| 314 | Myeloma, multiple | Enrichment | BRAF | 0.54 |
| 315 | Leber plus disease | Enrichment | TUBB4B | 0.49 |
| 316 | Inherited cancer-predisposing syndrome | Enrichment | CDH1 | 0.37 |