| 1 | Influenza | Direct | | |
| 2 | Lissencephaly | Enrichment | ACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3 | 9.74 |
| 3 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 7.69 |
| 4 | Deafness, autosomal recessive 1a | Enrichment | GJB2, GJB3, GJB6 | 7.09 |
| 5 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 7.09 |
| 6 | Gjb2-related autosomal recessive nonsyndromic hearing loss | Enrichment | GJB2, GJB3, GJB6 | 7.09 |
| 7 | Nonsyndromic hearing loss | Enrichment | ACTG1, GJB2, GJB3, GJB6, MYO6 | 6.42 |
| 8 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 6.39 |
| 9 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 6.22 |
| 10 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1, GJB3, GJB4 | 5.95 |
| 11 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, GJB2, GJB3, GJB6, MYO6 | 5.94 |
| 12 | Deafness, autosomal recessive 1b | Enrichment | GJB2, GJB6 | 5.12 |
| 13 | Keratitis ichthyosis and deafness syndrome | Enrichment | GJB2, GJB6 | 5.12 |
| 14 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1, GJB2, GJB3, GJB6, MYO6 | 4.78 |
| 15 | Deafness, x-linked 2 | Enrichment | GJB2, GJB6 | 4.64 |
| 16 | X-linked mixed hearing loss with perilymphatic gusher | Enrichment | GJB2, GJB6 | 4.64 |
| 17 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 3.80 |
| 18 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 3.66 |
| 19 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 3.66 |
| 20 | Oculodentodigital dysplasia | Enrichment | GJA1 | 3.66 |
| 21 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 3.66 |
| 22 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 3.66 |
| 23 | Thrombocytopenia 6 | Enrichment | SRC | 3.66 |
| 24 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 3.66 |
| 25 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 3.57 |
| 26 | Non-syndromic genetic deafness | Enrichment | ACTG1, GJB2, MYO6 | 3.54 |
| 27 | Cataract 30, multiple types | Enrichment | GJA3, GJA8 | 3.47 |
| 28 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBA8, TUBB1 | 3.47 |
| 29 | Hallermann-streiff syndrome | Enrichment | GJA1 | 3.35 |
| 30 | Syndactyly, type iii | Enrichment | GJA1 | 3.35 |
| 31 | Syndactyly, type v | Enrichment | GJA1 | 3.35 |
| 32 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 3.35 |
| 33 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 3.09 |
| 34 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 3.09 |
| 35 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 3.09 |
| 36 | Becker nevus syndrome | Enrichment | ACTB | 3.09 |
| 37 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 3.09 |
| 38 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 3.09 |
| 39 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 3.09 |
| 40 | Baraitser-winter syndrome | Enrichment | ACTB | 3.09 |
| 41 | Congenital insensitivity to pain with severe intellectual disability | Enrichment | CLTCL1 | 3.09 |
| 42 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 3.09 |
| 43 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 3.09 |
| 44 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 3.09 |
| 45 | Deafness, autosomal dominant 22 | Enrichment | MYO6 | 3.05 |
| 46 | Deafness, autosomal recessive 37 | Enrichment | MYO6 | 3.05 |
| 47 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | Enrichment | MYO6 | 3.05 |
| 48 | Autosomal dominant nonsyndromic hearing loss 22 | Enrichment | MYO6 | 3.05 |
| 49 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC, DNM1 | 3.05 |
| 50 | Cleft upper lip | Enrichment | GJA1 | 2.96 |
| 51 | Early-onset nuclear cataract | Enrichment | GJA3, GJA8 | 2.94 |
| 52 | Myelofibrosis | Enrichment | SRC | 2.81 |
| 53 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.79 |
| 54 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.79 |
| 55 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | AP2M1 | 2.79 |
| 56 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 2.75 |
| 57 | Isolated congenital microcephaly | Enrichment | OCLN, TUBA3E | 2.73 |
| 58 | Rare genetic deafness | Enrichment | ACTG1, MYO6 | 2.67 |
| 59 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 2.61 |
| 60 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 2.61 |
| 61 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 2.61 |
| 62 | Bart-pumphrey syndrome | Enrichment | GJB2 | 2.55 |
| 63 | Clouston syndrome | Enrichment | GJB6 | 2.55 |
| 64 | Vohwinkel syndrome | Enrichment | GJB2 | 2.55 |
| 65 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.55 |
| 66 | Cataract 14, multiple types | Enrichment | GJA3 | 2.55 |
| 67 | Deafness, autosomal dominant 3a | Enrichment | GJB2 | 2.55 |
| 68 | Lymphatic malformation 3 | Enrichment | GJC2 | 2.55 |
| 69 | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | Enrichment | GJB2 | 2.55 |
| 70 | Deafness, autosomal dominant 3b | Enrichment | GJB6 | 2.55 |
| 71 | Cataract 1, multiple types | Enrichment | GJA8 | 2.55 |
| 72 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.55 |
| 73 | Deafness, autosomal dominant 2b | Enrichment | GJB3 | 2.55 |
| 74 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.55 |
| 75 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.55 |
| 76 | Ichthyosis, hystrix-like, with deafness | Enrichment | GJB2 | 2.55 |
| 77 | Spastic paraplegia 44, autosomal recessive | Enrichment | GJC2 | 2.55 |
| 78 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.55 |
| 79 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.55 |
| 80 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.55 |
| 81 | Hemangioma of liver | Enrichment | GJA4 | 2.55 |
| 82 | Erythrokeratodermia variabilis et progressiva 2 | Enrichment | GJB4 | 2.55 |
| 83 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.55 |
| 84 | Gjc2-related late-onset primary lymphedema | Enrichment | GJC2 | 2.55 |
| 85 | Neuropathy with hearing impairment | Enrichment | GJB3 | 2.55 |
| 86 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 2.55 |
| 87 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.55 |
| 88 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.55 |
| 89 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.55 |
| 90 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.55 |
| 91 | Porokeratotic eccrine ostial and dermal duct nevus | Enrichment | GJB2 | 2.55 |
| 92 | Autosomal dominant nonsyndromic hearing loss 3a | Enrichment | GJB2 | 2.55 |
| 93 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 2.55 |
| 94 | Skin hemangioma | Enrichment | GJA4 | 2.55 |
| 95 | Osteoporosis | Enrichment | SRC | 2.51 |
| 96 | Congenital nervous system abnormality | Enrichment | GJC2, TUBA1A, TUBB4A | 2.49 |
| 97 | Nervous system disease | Enrichment | GJC2, TUBA1A, TUBB4A | 2.49 |
| 98 | Aminoacylase 1 deficiency | Enrichment | ACTB | 2.49 |
| 99 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 2.49 |
| 100 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 2.49 |
| 101 | Ear malformation | Enrichment | GJB2, MYO6 | 2.47 |
| 102 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 2.39 |
| 103 | Coloboma of choroid and retina | Enrichment | ACTG1 | 2.39 |
| 104 | Skin creases, congenital symmetric circumferential, 1 | Enrichment | TUBB | 2.39 |
| 105 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 2.39 |
| 106 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.39 |
| 107 | Deafness, autosomal dominant 51 | Enrichment | TJP2 | 2.39 |
| 108 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.39 |
| 109 | Cortical dysplasia, complex, with other brain malformations 6 | Enrichment | TUBB | 2.39 |
| 110 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.39 |
| 111 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.39 |
| 112 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.39 |
| 113 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.39 |
| 114 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.39 |
| 115 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.39 |
| 116 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.39 |
| 117 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.39 |
| 118 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.39 |
| 119 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.39 |
| 120 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.39 |
| 121 | Zebra body myopathy | Enrichment | ACTA1 | 2.39 |
| 122 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.39 |
| 123 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.39 |
| 124 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.39 |
| 125 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.39 |
| 126 | Microcephaly | Enrichment | ACTB, ACTG1 | 2.37 |
| 127 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 2.31 |
| 128 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 2.31 |
| 129 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | MYO6 | 2.28 |
| 130 | Cerebral palsy | Enrichment | TUBA1A, TUBB4A | 2.28 |
| 131 | Atrial standstill 1 | Enrichment | GJA5 | 2.25 |
| 132 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 2.25 |
| 133 | Spinocerebellar ataxia, x-linked 1 | Enrichment | GJB1 | 2.25 |
| 134 | Congenital cataracts, facial dysmorphism, and neuropathy | Enrichment | GJA3 | 2.25 |
| 135 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 2.25 |
| 136 | Atrial fibrillation, familial, 11 | Enrichment | GJA5 | 2.25 |
| 137 | Deafness, autosomal recessive 104 | Enrichment | GJB2 | 2.25 |
| 138 | Keratoconus 9 | Enrichment | TUBA3D | 2.25 |
| 139 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 2.25 |
| 140 | Lissencephaly 3 | Enrichment | TUBA1A | 2.25 |
| 141 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 2.25 |
| 142 | Torsion dystonia 4 | Enrichment | TUBB4A | 2.25 |
| 143 | Hereditary palmoplantar keratoderma | Enrichment | GJB2 | 2.25 |
| 144 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 2.25 |
| 145 | Noonan syndrome 3 | Enrichment | CLTC | 2.25 |
| 146 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 2.25 |
| 147 | Lennox-gastaut syndrome | Enrichment | DNM1 | 2.19 |
| 148 | Myoclonic-atonic epilepsy | Enrichment | AP2M1 | 2.14 |
| 149 | Cat eye syndrome | Enrichment | ACTG1 | 2.09 |
| 150 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.09 |
| 151 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.09 |
| 152 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.09 |
| 153 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.09 |
| 154 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.09 |
| 155 | Cholestasis, progressive familial intrahepatic, 4 | Enrichment | TJP2 | 2.09 |
| 156 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.09 |
| 157 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.09 |
| 158 | Multiple benign circumferential skin creases on limbs | Enrichment | TUBB | 2.09 |
| 159 | Intestinal obstruction | Enrichment | ACTG2 | 2.09 |
| 160 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 2.08 |
| 161 | Keratoderma, palmoplantar, with deafness | Enrichment | GJB2 | 2.08 |
| 162 | Pelizaeus-merzbacher disease | Enrichment | GJC2 | 2.08 |
| 163 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | GJB2 | 2.08 |
| 164 | Charcot-marie-tooth disease, x-linked dominant, 1 | Enrichment | GJB1 | 2.08 |
| 165 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 2.08 |
| 166 | Leukodystrophy, hypomyelinating, 2 | Enrichment | GJC2 | 2.08 |
| 167 | Oocyte/zygote/embryo maturation arrest 2 | Enrichment | TUBB8 | 2.08 |
| 168 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 2.08 |
| 169 | Sclerocornea | Enrichment | GJA8 | 2.08 |
| 170 | Pelizeaus-merzbacher spectrum disorder | Enrichment | GJC2 | 2.08 |
| 171 | Charcot-marie-tooth disease | Enrichment | DNM2, GJB1 | 2.02 |
| 172 | Spastic ataxia | Enrichment | GJC2, TUBB3 | 2.02 |
| 173 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1, TUBA1A | 2.01 |
| 174 | Stereotypic movement disorder | Enrichment | DNM1 | 1.98 |
| 175 | Thrombocytopenia | Enrichment | SRC | 1.98 |
| 176 | West syndrome | Enrichment | DNM1, TUBA1A | 1.96 |
| 177 | Hypercholanemia, familial 1 | Enrichment | TJP2 | 1.92 |
| 178 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1 | 1.90 |
| 179 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | GJB1 | 1.86 |
| 180 | Female infertility due to oocyte meiotic arrest | Enrichment | TUBB8 | 1.86 |
| 181 | Sensory peripheral neuropathy | Enrichment | GJB1 | 1.86 |
| 182 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.79 |
| 183 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.79 |
| 184 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.79 |
| 185 | Hereditary ataxia | Enrichment | PRKCG | 1.79 |
| 186 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.79 |
| 187 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.78 |
| 188 | Deafness, autosomal recessive 12 | Enrichment | GJB2 | 1.78 |
| 189 | Pain disorder | Enrichment | GJB1 | 1.78 |
| 190 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.78 |
| 191 | Early-onset sutural cataract | Enrichment | GJA8 | 1.78 |
| 192 | Centronuclear myopathy | Enrichment | DNM2 | 1.77 |
| 193 | Colorectal cancer | Enrichment | SRC | 1.72 |
| 194 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.70 |
| 195 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.70 |
| 196 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.70 |
| 197 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.70 |
| 198 | Cryptorchidism | Enrichment | TUBA1A | 1.65 |
| 199 | Cataract - microcornea syndrome | Enrichment | GJA8 | 1.65 |
| 200 | Early-onset posterior polar cataract | Enrichment | GJA3 | 1.65 |
| 201 | Branchiootorenal syndrome 1 | Enrichment | TJP2 | 1.62 |
| 202 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.62 |
| 203 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.62 |
| 204 | Limited scleroderma | Enrichment | CAV1 | 1.62 |
| 205 | Familial hypercholanemia | Enrichment | TJP2 | 1.62 |
| 206 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.62 |
| 207 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.60 |
| 208 | Cakut | Enrichment | ACTG1 | 1.56 |
| 209 | Branchiootorenal syndrome | Enrichment | TJP2 | 1.55 |
| 210 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.55 |
| 211 | Myopathy | Enrichment | DNM2 | 1.50 |
| 212 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.48 |
| 213 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.44 |
| 214 | Primary biliary cholangitis | Enrichment | TJP2 | 1.44 |
| 215 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC | 1.40 |
| 216 | Stroke, ischemic | Enrichment | PRKCH | 1.40 |
| 217 | Nemaline myopathy | Enrichment | ACTA1 | 1.40 |
| 218 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.38 |
| 219 | Anterior segment dysgenesis | Enrichment | GJA8 | 1.38 |
| 220 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.38 |
| 221 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.38 |
| 222 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1 | 1.38 |
| 223 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.36 |
| 224 | Dandy-walker syndrome | Enrichment | TUBA1A | 1.33 |
| 225 | Cataract 44 | Enrichment | GJA8 | 1.33 |
| 226 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.29 |
| 227 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.26 |
| 228 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.23 |
| 229 | Microphthalmia | Enrichment | GJA8 | 1.22 |
| 230 | Noonan syndrome 1 | Enrichment | GJB2 | 1.20 |
| 231 | Hydrocephalus, congenital, 1 | Enrichment | TUBB | 1.20 |
| 232 | Familial atrial fibrillation | Enrichment | GJA5 | 1.19 |
| 233 | Tetralogy of fallot | Enrichment | GJA5 | 1.15 |
| 234 | Auditory neuropathy | Enrichment | TUBB4A | 1.15 |
| 235 | Neuromuscular disease | Enrichment | ACTA1 | 1.15 |
| 236 | Patent foramen ovale | Enrichment | ACTC1 | 1.15 |
| 237 | Congenital myopathy | Enrichment | ACTA1 | 1.13 |
| 238 | Peripheral nervous system disease | Enrichment | GJB1 | 1.07 |
| 239 | Neuropathy | Enrichment | GJB1 | 1.07 |
| 240 | Dystonia | Enrichment | GJC2 | 1.03 |
| 241 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.00 |
| 242 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.93 |
| 243 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.93 |
| 244 | Lung cancer | Enrichment | ACTA2 | 0.91 |
| 245 | Connective tissue disease | Enrichment | ACTA2 | 0.91 |
| 246 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1 | 0.90 |
| 247 | Sensorineural hearing loss | Enrichment | GJB2 | 0.90 |
| 248 | Left ventricular noncompaction | Enrichment | ACTC1 | 0.88 |
| 249 | Hypertrophic cardiomyopathy | Enrichment | ACTC1 | 0.79 |
| 250 | Deafness, autosomal recessive | Enrichment | GJB2 | 0.79 |
| 251 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.79 |
| 252 | Autosomal recessive nonsyndromic deafness | Enrichment | GJB2 | 0.78 |
| 253 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1 | 0.71 |
| 254 | Leber plus disease | Enrichment | TUBB4B | 0.63 |
| 255 | Autism spectrum disorder | Enrichment | GJB2 | 0.58 |