| 1 | Respiratory syncytial virus infectious disease | Direct | | |
| 2 | Lissencephaly | Enrichment | ACTG1, TUBA1A, TUBA3E, TUBB2B, TUBB3 | 8.01 |
| 3 | Self-limited infantile epilepsy | Enrichment | KCNQ2, KCNQ3, SCN2A, SCN8A | 7.54 |
| 4 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 7.35 |
| 5 | West syndrome | Enrichment | DNM1, KCNQ2, SCN1A, SCN2A, SCN8A, SPTAN1, TUBA1A | 6.98 |
| 6 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 6.75 |
| 7 | Developmental and epileptic encephalopathy | Enrichment | KCNQ2, SCN1A, SCN2A, SCN3A, SCN8A, SPTAN1 | 6.18 |
| 8 | Hereditary sodium channelopathy-related small fibers neuropathy | Enrichment | SCN10A, SCN11A, SCN9A | 6.17 |
| 9 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 6.06 |
| 10 | Dravet syndrome | Enrichment | SCN1A, SCN1B, SCN2A, SCN9A | 5.93 |
| 11 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGA2B, ITGB3, TUBA8, TUBB1 | 5.93 |
| 12 | Benign epilepsy with centrotemporal spikes | Enrichment | KCNQ3, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN1 | 5.83 |
| 13 | Familial atrial fibrillation | Enrichment | SCN1B, SCN2B, SCN3B, SCN4B, SCN5A | 5.73 |
| 14 | Centralopathic epilepsy | Enrichment | KCNQ3, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN1 | 5.71 |
| 15 | Erythermalgia, primary | Enrichment | SCN10A, SCN11A, SCN9A | 5.57 |
| 16 | Brugada syndrome | Enrichment | SCN10A, SCN1B, SCN2B, SCN3B, SCN5A | 5.55 |
| 17 | Generalized epilepsy with febrile seizures plus | Enrichment | SCN1A, SCN1B, SCN2A, SCN9A | 5.26 |
| 18 | Paroxysmal extreme pain disorder | Enrichment | SCN10A, SCN11A, SCN9A | 5.18 |
| 19 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC, DNM1, SCN1A, SCN1B, SCN3A, SCN8A | 5.02 |
| 20 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.89 |
| 21 | Hereditary spherocytosis | Enrichment | ANK1, SPTA1, SPTB | 4.88 |
| 22 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGA2B, ITGB3 | 4.88 |
| 23 | Complex neurodevelopmental disorder | Enrichment | ANK2, CNTN2, CSNK2A1, DLG4, NRCAM, SCN2A, SCN8A, SPTBN1 | 4.86 |
| 24 | Fetal akinesia deformation sequence 1 | Enrichment | CNTNAP1, SCN4A, SCN5A, SCN8A, TUBA1A | 4.76 |
| 25 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | SCN3A, TUBA1A, TUBB2B | 4.64 |
| 26 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | SCN10A, SCN11A, SCN9A | 4.64 |
| 27 | Focal epilepsy | Enrichment | SCN2A, SCN8A, SPTAN1 | 4.64 |
| 28 | Developmental and epileptic encephalopathy 14 | Enrichment | KCNQ2, SCN1A, SCN2A | 4.26 |
| 29 | Bilateral perisylvian polymicrogyria | Enrichment | SCN3A, TUBA1A, TUBB2B | 4.26 |
| 30 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC, CSNK2B, DPYSL2, KCNQ2, SCN8A | 4.11 |
| 31 | Seizures, benign familial neonatal, 2 | Enrichment | KCNQ2, KCNQ3 | 4.11 |
| 32 | Pyropoikilocytosis, hereditary | Enrichment | SPTA1, SPTB | 4.11 |
| 33 | Seizures, benign familial infantile, 3 | Enrichment | KCNQ2, SCN2A | 4.11 |
| 34 | Benign familial neonatal epilepsy | Enrichment | KCNQ3, SCN2A | 4.11 |
| 35 | Seizures, benign familial infantile, 5 | Enrichment | KCNQ3, SCN8A | 4.11 |
| 36 | Self-limited neonatal epilepsy | Enrichment | KCNQ2, KCNQ3 | 4.11 |
| 37 | Benign neonatal seizures | Enrichment | KCNQ3, SCN2A | 4.11 |
| 38 | Long qt syndrome 1 | Enrichment | ANK2, SCN10A, SCN4B, SCN5A | 3.87 |
| 39 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGA2B, ITGB3 | 3.64 |
| 40 | Generalized epilepsy with febrile seizures plus, type 1 | Enrichment | SCN1A, SCN1B | 3.64 |
| 41 | Autism spectrum disorder | Enrichment | ANK2, CNTN6, CSNK2A1, CSNK2B, MAP2K1, SCN2A | 3.39 |
| 42 | Epilepsy | Enrichment | SCN1A, SCN2A, SCN3A, SCN8A | 3.38 |
| 43 | Congenital myopathy 12 | Enrichment | CNTN1 | 3.35 |
| 44 | Lissencephaly, x-linked, 1 | Enrichment | DCX | 3.35 |
| 45 | Lethal congenital contracture syndrome 7 | Enrichment | CNTNAP1 | 3.35 |
| 46 | 8p11.2 deletion syndrome | Enrichment | ANK1 | 3.35 |
| 47 | Neuropathy, congenital hypomyelinating, 3 | Enrichment | CNTNAP1 | 3.35 |
| 48 | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | Enrichment | NRCAM | 3.35 |
| 49 | Neurodevelopmental disorder with central and peripheral motor dysfunction | Enrichment | NFASC | 3.35 |
| 50 | Dcx-related disorders | Enrichment | DCX | 3.35 |
| 51 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 3.34 |
| 52 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 3.34 |
| 53 | Hereditary elliptocytosis | Enrichment | SPTA1, SPTB | 3.34 |
| 54 | Hereditary progressive cardiac conduction defect | Enrichment | SCN1B, SCN5A | 3.34 |
| 55 | Distal arthrogryposis | Enrichment | CNTNAP1, SCN4A, SCN5A, SCN8A | 3.30 |
| 56 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 3.18 |
| 57 | Specific learning disability | Enrichment | MAPK1, RPS6KA3 | 3.16 |
| 58 | Thrombocytopenia | Enrichment | ITGA2B, ITGB3, SRC, TUBB1 | 3.08 |
| 59 | Microcephaly | Enrichment | ACTB, ACTG1, MAPK1, TUBB4A | 3.00 |
| 60 | Epilepsy, early-onset, 5, with or without developmental delay | Enrichment | CNTN2 | 2.99 |
| 61 | Intellectual developmental disorder, x-linked 90 | Enrichment | DLG3 | 2.99 |
| 62 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 2.99 |
| 63 | Band heterotopia | Enrichment | DCX | 2.88 |
| 64 | Hypomyelination neuropathy-arthrogryposis syndrome | Enrichment | CNTNAP1 | 2.88 |
| 65 | Developmental and epileptic encephalopathy 1 | Enrichment | KCNQ2, SCN1A, SCN8A | 2.87 |
| 66 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 2.81 |
| 67 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 2.81 |
| 68 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 2.81 |
| 69 | Dlg4-related synaptopathy | Enrichment | DLG4 | 2.81 |
| 70 | Brugada syndrome 1 | Enrichment | SCN10A, SCN5A | 2.80 |
| 71 | Glanzmann thrombasthenia 1 | Enrichment | ITGA2B, ITGB3 | 2.80 |
| 72 | Hemolytic anemia | Enrichment | SPTA1, SPTB | 2.80 |
| 73 | Fucosidosis | Enrichment | DCX | 2.75 |
| 74 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 2.69 |
| 75 | Lennox-gastaut syndrome | Enrichment | DNM1, SCN1A | 2.68 |
| 76 | Spherocytosis, type 1 | Enrichment | ANK1 | 2.66 |
| 77 | Myoclonic-atonic epilepsy | Enrichment | AP2M1, SCN1A | 2.57 |
| 78 | Familial adult myoclonic epilepsy | Enrichment | CNTN2 | 2.51 |
| 79 | Arthrogryposis, distal, type 1a | Enrichment | CNTNAP1 | 2.45 |
| 80 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | Enrichment | L1CAM | 2.44 |
| 81 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.44 |
| 82 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.44 |
| 83 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.44 |
| 84 | Intellectual developmental disorder, x-linked 100 | Enrichment | KIF4A | 2.44 |
| 85 | Hypocalciuric hypercalcemia, familial, type iii | Enrichment | AP2S1 | 2.44 |
| 86 | Immunodeficiency 50 | Enrichment | MSN | 2.44 |
| 87 | Taurodontism, microdontia, and dens invaginatus | Enrichment | KIF4A | 2.44 |
| 88 | Deafness, autosomal recessive 24 | Enrichment | RDX | 2.44 |
| 89 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.44 |
| 90 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.44 |
| 91 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.44 |
| 92 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.44 |
| 93 | Corpus callosum, partial agenesis of, x-linked | Enrichment | L1CAM | 2.44 |
| 94 | Hydrocephalus, congenital, x-linked | Enrichment | L1CAM | 2.44 |
| 95 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.44 |
| 96 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.44 |
| 97 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.44 |
| 98 | Masa syndrome | Enrichment | L1CAM | 2.44 |
| 99 | Becker nevus syndrome | Enrichment | ACTB | 2.44 |
| 100 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.44 |
| 101 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.44 |
| 102 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.44 |
| 103 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.44 |
| 104 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.44 |
| 105 | Thrombocytopenia 6 | Enrichment | SRC | 2.44 |
| 106 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.44 |
| 107 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.44 |
| 108 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 2.44 |
| 109 | Baraitser-winter syndrome | Enrichment | ACTB | 2.44 |
| 110 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.44 |
| 111 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.44 |
| 112 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.44 |
| 113 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.44 |
| 114 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.44 |
| 115 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.44 |
| 116 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 2.44 |
| 117 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.44 |
| 118 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.44 |
| 119 | X-linked complicated spastic paraplegia type 1 | Enrichment | L1CAM | 2.44 |
| 120 | Autism | Enrichment | CNTN6, SCN1A, SCN2A, SCN8A | 2.42 |
| 121 | Lung non-small cell carcinoma | Enrichment | EGFR, MAP2K1 | 2.39 |
| 122 | Cardiac conduction defect | Enrichment | SCN1B, SCN5A | 2.32 |
| 123 | Protein-deficiency anemia | Enrichment | SPTA1, SPTB | 2.25 |
| 124 | Cleft lip/palate | Enrichment | DLG1 | 2.14 |
| 125 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 2.14 |
| 126 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.14 |
| 127 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.14 |
| 128 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 2.14 |
| 129 | Keratoconus 9 | Enrichment | TUBA3D | 2.14 |
| 130 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 2.14 |
| 131 | Lissencephaly 3 | Enrichment | TUBA1A | 2.14 |
| 132 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 2.14 |
| 133 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | AP2M1 | 2.14 |
| 134 | Torsion dystonia 4 | Enrichment | TUBB4A | 2.14 |
| 135 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 2.14 |
| 136 | Non-syndromic genetic deafness | Enrichment | ACTG1, RDX | 2.13 |
| 137 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, MAP2K2 | 2.12 |
| 138 | Gliosarcoma | Enrichment | EGFR, FGFR1 | 2.07 |
| 139 | Neural tube defects | Enrichment | ITGB1 | 2.07 |
| 140 | Cerebral palsy | Enrichment | TUBA1A, TUBB4A | 2.06 |
| 141 | Elliptocytosis 2 | Enrichment | SPTA1 | 2.05 |
| 142 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.05 |
| 143 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.05 |
| 144 | Cardiac arrhythmia, ankyrin-b-related | Enrichment | ANK2 | 2.05 |
| 145 | Spinocerebellar ataxia 5 | Enrichment | SPTBN2 | 2.05 |
| 146 | Brugada syndrome 5 | Enrichment | SCN1B | 2.05 |
| 147 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.05 |
| 148 | Long qt syndrome 10 | Enrichment | SCN4B | 2.05 |
| 149 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 2.05 |
| 150 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.05 |
| 151 | Intellectual developmental disorder, autosomal recessive 37 | Enrichment | ANK3 | 2.05 |
| 152 | Episodic pain syndrome, familial, 3 | Enrichment | SCN11A | 2.05 |
| 153 | Developmental and epileptic encephalopathy 7 | Enrichment | KCNQ2 | 2.05 |
| 154 | Developmental and epileptic encephalopathy 11 | Enrichment | SCN2A | 2.05 |
| 155 | Lissencephaly 5 | Enrichment | LAMB1 | 2.05 |
| 156 | Neuropathy, hereditary sensory and autonomic, type vii | Enrichment | SCN11A | 2.05 |
| 157 | Atrial fibrillation, familial, 14 | Enrichment | SCN2B | 2.05 |
| 158 | Spherocytosis, type 3 | Enrichment | SPTA1 | 2.05 |
| 159 | Myoclonus, familial, 2 | Enrichment | SCN8A | 2.05 |
| 160 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.05 |
| 161 | Fetomaternal alloimmune thrombocytopenia 2 | Enrichment | ITGA2B | 2.05 |
| 162 | Developmental and epileptic encephalopathy 62 | Enrichment | SCN3A | 2.05 |
| 163 | Long qt syndrome 4 | Enrichment | ANK2 | 2.05 |
| 164 | Atrial fibrillation, familial, 13 | Enrichment | SCN1B | 2.05 |
| 165 | Spinocerebellar ataxia, autosomal recessive 14 | Enrichment | SPTBN2 | 2.05 |
| 166 | Developmental delay, impaired speech, and behavioral abnormalities | Enrichment | SPTBN1 | 2.05 |
| 167 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 2.05 |
| 168 | Melorheostosis | Enrichment | MAP2K1 | 2.05 |
| 169 | Hyperpigmentation, familial progressive, 1 | Enrichment | SPTA1 | 2.05 |
| 170 | Episodic ataxia, type 9 | Enrichment | SCN2A | 2.05 |
| 171 | Episodic pain syndrome, familial, 2 | Enrichment | SCN10A | 2.05 |
| 172 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.05 |
| 173 | Benign familial infantile epilepsy | Enrichment | SCN2A | 2.05 |
| 174 | Brugada syndrome 7 | Enrichment | SCN3B | 2.05 |
| 175 | Epilepsy, familial focal, with variable foci 4 | Enrichment | SCN3A | 2.05 |
| 176 | Hartsfield syndrome | Enrichment | FGFR1 | 2.05 |
| 177 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 2.05 |
| 178 | Spherocytosis, type 2 | Enrichment | SPTB | 2.05 |
| 179 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 2.05 |
| 180 | Elliptocytosis 3 | Enrichment | SPTB | 2.05 |
| 181 | Muscular channelopathy | Enrichment | SCN4A | 2.05 |
| 182 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 2.05 |
| 183 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 2.05 |
| 184 | Kcnq3-related disorders | Enrichment | KCNQ3 | 2.05 |
| 185 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 2.05 |
| 186 | Craniodigital syndrome and intellectual disability syndrome | Enrichment | CSNK2B | 2.05 |
| 187 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.05 |
| 188 | Kcnq2-related disorders | Enrichment | KCNQ2 | 2.05 |
| 189 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.05 |
| 190 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.05 |
| 191 | Sudden infant death syndrome | Enrichment | SCN1A, SCN5A | 2.01 |
| 192 | Giant cell glioblastoma | Enrichment | EGFR, FGFR1 | 2.01 |
| 193 | Nonsyndromic hearing loss | Enrichment | ACTG1, RDX | 2.00 |
| 194 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 1.97 |
| 195 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.97 |
| 196 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 1.97 |
| 197 | Oocyte/zygote/embryo maturation arrest 2 | Enrichment | TUBB8 | 1.97 |
| 198 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 1.97 |
| 199 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.97 |
| 200 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.97 |
| 201 | Early infantile developmental and epileptic encephalopathy | Enrichment | SCN1B, SCN2A | 1.97 |
| 202 | Spastic ataxia | Enrichment | SCN2A, SPTAN1, TUBB3 | 1.94 |
| 203 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.84 |
| 204 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.84 |
| 205 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.84 |
| 206 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.84 |
| 207 | Congenital nervous system abnormality | Enrichment | ANK3, DCX, TUBA1A, TUBB4A | 1.84 |
| 208 | Nervous system disease | Enrichment | ANK3, DCX, TUBA1A, TUBB4A | 1.84 |
| 209 | Noonan syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 1.76 |
| 210 | Seizures, benign familial neonatal, 1 | Enrichment | KCNQ2 | 1.75 |
| 211 | Atrial standstill 1 | Enrichment | SCN5A | 1.75 |
| 212 | Progressive familial heart block, type ia | Enrichment | SCN5A | 1.75 |
| 213 | Paramyotonia congenita | Enrichment | SCN4A | 1.75 |
| 214 | Batten-turner congenital myopathy | Enrichment | SCN4A | 1.75 |
| 215 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 1.75 |
| 216 | Indifference to pain, congenital, autosomal recessive | Enrichment | SCN9A | 1.75 |
| 217 | Sick sinus syndrome 1 | Enrichment | SCN5A | 1.75 |
| 218 | Myotonia, potassium-aggravated | Enrichment | SCN4A | 1.75 |
| 219 | Pfeiffer syndrome | Enrichment | FGFR1 | 1.75 |
| 220 | Jackson-weiss syndrome | Enrichment | FGFR1 | 1.75 |
| 221 | Lissencephaly 1 | Enrichment | LAMB1 | 1.75 |
| 222 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.75 |
| 223 | Chudley-mccullough syndrome | Enrichment | SPTB | 1.75 |
| 224 | Atrial fibrillation, familial, 10 | Enrichment | SCN5A | 1.75 |
| 225 | Migraine, familial hemiplegic, 3 | Enrichment | SCN1A | 1.75 |
| 226 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Enrichment | SPTBN4 | 1.75 |
| 227 | Cognitive impairment with or without cerebellar ataxia | Enrichment | SCN8A | 1.75 |
| 228 | Long qt syndrome 3 | Enrichment | SCN5A | 1.75 |
| 229 | Developmental and epileptic encephalopathy 6b | Enrichment | SCN1A | 1.75 |
| 230 | Sinoatrial node disease | Enrichment | SCN5A | 1.75 |
| 231 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.75 |
| 232 | Congenital myopathy 22a, classic | Enrichment | SCN4A | 1.75 |
| 233 | Poirier-bienvenu neurodevelopmental syndrome | Enrichment | CSNK2B | 1.75 |
| 234 | Congenital myopathy 22b, severe fetal | Enrichment | SCN4A | 1.75 |
| 235 | Myasthenic syndrome, congenital, 16 | Enrichment | SCN4A | 1.75 |
| 236 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.75 |
| 237 | Developmental and epileptic encephalopathy 30 | Enrichment | SCN2A | 1.75 |
| 238 | Congenital hemolytic anemia | Enrichment | SPTA1 | 1.75 |
| 239 | Ichthyosis, congenital, autosomal recessive 10 | Enrichment | KCNQ2 | 1.75 |
| 240 | Hypokalemic periodic paralysis, type 2 | Enrichment | SCN4A | 1.75 |
| 241 | Scn1a seizure disorders | Enrichment | SCN1A | 1.75 |
| 242 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.75 |
| 243 | Malignant migrating partial seizures of infancy | Enrichment | SCN2A | 1.75 |
| 244 | Developmental and epileptic encephalopathy 76 | Enrichment | SCN1A | 1.75 |
| 245 | Small fiber neuropathy | Enrichment | SCN9A | 1.75 |
| 246 | Isolated atrial standstill | Enrichment | SCN5A | 1.75 |
| 247 | Tafro syndrome | Enrichment | MAP2K2 | 1.75 |
| 248 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.75 |
| 249 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | L1CAM | 1.75 |
| 250 | Female infertility due to oocyte meiotic arrest | Enrichment | TUBB8 | 1.75 |
| 251 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.75 |
| 252 | Non-syndromic x-linked intellectual disability | Enrichment | DLG3 | 1.73 |
| 253 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.67 |
| 254 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.67 |
| 255 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 1.67 |
| 256 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.67 |
| 257 | Multicystic kidney dysplasia | Enrichment | KIF4A | 1.67 |
| 258 | Multicystic dysplastic kidney | Enrichment | KIF4A | 1.67 |
| 259 | Rasopathy | Enrichment | MAP2K1, MAP2K2 | 1.66 |
| 260 | Myelofibrosis | Enrichment | SRC | 1.60 |
| 261 | Noonan syndrome 3 | Enrichment | CLTC | 1.60 |
| 262 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 1.60 |
| 263 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.58 |
| 264 | Dystonia 12 | Enrichment | SCN2A | 1.58 |
| 265 | Prognathism, mandibular | Enrichment | CSNK2B | 1.58 |
| 266 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.58 |
| 267 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.58 |
| 268 | Generalized epilepsy with febrile seizures plus, type 2 | Enrichment | SCN1A | 1.58 |
| 269 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.58 |
| 270 | Developmental and epileptic encephalopathy 13 | Enrichment | SCN8A | 1.58 |
| 271 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.58 |
| 272 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | Enrichment | SPTBN1 | 1.58 |
| 273 | Generalized epilepsy with febrile seizures plus, type 7 | Enrichment | SCN9A | 1.58 |
| 274 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 1.58 |
| 275 | Tremor, hereditary essential, 6 | Enrichment | SCN4A | 1.58 |
| 276 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 1.58 |
| 277 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.58 |
| 278 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.58 |
| 279 | Hereditary episodic ataxia | Enrichment | SCN2A | 1.58 |
| 280 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.54 |
| 281 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.54 |
| 282 | Cryptorchidism | Enrichment | TUBA1A | 1.54 |
| 283 | Long qt syndrome | Enrichment | ANK2, SCN5A | 1.52 |
| 284 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.49 |
| 285 | Ventricular septal defect | Enrichment | RPS6KA3 | 1.49 |
| 286 | Hydrops fetalis | Enrichment | L1CAM | 1.49 |
| 287 | Rare genetic deafness | Enrichment | ACTG1, RDX | 1.48 |
| 288 | Neuropathy, hereditary sensory and autonomic, type iia | Enrichment | SCN9A | 1.46 |
| 289 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.46 |
| 290 | Ventricular fibrillation, paroxysmal familial, 1 | Enrichment | SCN5A | 1.46 |
| 291 | Long qt syndrome 2 | Enrichment | SCN5A | 1.46 |
| 292 | Hyperkalemic periodic paralysis | Enrichment | SCN4A | 1.46 |
| 293 | Developmental and epileptic encephalopathy 12 | Enrichment | SCN2A | 1.46 |
| 294 | Hereditary sensory and autonomic neuropathy type 2 | Enrichment | SCN9A | 1.46 |
| 295 | Developmental and epileptic encephalopathy 52 | Enrichment | SCN1B | 1.46 |
| 296 | Enophthalmos | Enrichment | CSNK2B | 1.46 |
| 297 | Syndactyly | Enrichment | CSNK2B | 1.46 |
| 298 | Atrial fibrillation | Enrichment | SCN5A | 1.46 |
| 299 | Sotos syndrome 1 | Enrichment | SCN4A | 1.46 |
| 300 | Episodic ataxia | Enrichment | SCN2A | 1.46 |
| 301 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 1.46 |
| 302 | Familial or sporadic hemiplegic migraine | Enrichment | SCN1A | 1.46 |
| 303 | Sick sinus syndrome | Enrichment | SCN5A | 1.46 |
| 304 | Paroxysmal familial ventricular fibrillation | Enrichment | SCN5A | 1.46 |
| 305 | Familial sick sinus syndrome | Enrichment | SCN5A | 1.46 |
| 306 | Cat eye syndrome | Enrichment | ACTG1 | 1.45 |
| 307 | Schizophrenia | Enrichment | CNTN6 | 1.41 |
| 308 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.37 |
| 309 | Sotos syndrome | Enrichment | SCN4A | 1.36 |
| 310 | Convulsions, familial infantile, with paroxysmal choreoathetosis | Enrichment | SCN8A | 1.36 |
| 311 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.36 |
| 312 | Heart conduction disease | Enrichment | SCN5A | 1.36 |
| 313 | Pervasive developmental disorder | Enrichment | SPTBN1 | 1.36 |
| 314 | Cardiac arrest | Enrichment | SCN5A | 1.36 |
| 315 | Holoprosencephaly | Enrichment | FGFR1 | 1.36 |
| 316 | Sensory peripheral neuropathy | Enrichment | SCN11A | 1.36 |
| 317 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.36 |
| 318 | Rare pervasive developmental disorder | Enrichment | SPTBN1 | 1.36 |
| 319 | Stereotypic movement disorder | Enrichment | DNM1 | 1.34 |
| 320 | Myopathy | Enrichment | DNM2, SCN4A | 1.31 |
| 321 | Osteoporosis | Enrichment | SRC | 1.31 |
| 322 | Hypokalemic periodic paralysis, type 1 | Enrichment | SCN4A | 1.28 |
| 323 | Cowden syndrome 1 | Enrichment | EGFR | 1.28 |
| 324 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.28 |
| 325 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | ANK2 | 1.28 |
| 326 | Pain disorder | Enrichment | SCN4A | 1.28 |
| 327 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.28 |
| 328 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.28 |
| 329 | Hydrocephalus | Enrichment | KIF4A | 1.28 |
| 330 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.28 |
| 331 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.28 |
| 332 | Hydrocephalus, congenital, 1 | Enrichment | KIF4A | 1.25 |
| 333 | Isolated congenital microcephaly | Enrichment | TUBA3E | 1.25 |
| 334 | Dandy-walker syndrome | Enrichment | TUBA1A | 1.22 |
| 335 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.22 |
| 336 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.22 |
| 337 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.22 |
| 338 | Heart, malformation of | Enrichment | MAPK1 | 1.20 |
| 339 | Alternating hemiplegia of childhood | Enrichment | SCN2A | 1.16 |
| 340 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | ANK2 | 1.16 |
| 341 | Centronuclear myopathy | Enrichment | DNM2 | 1.14 |
| 342 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.11 |
| 343 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.11 |
| 344 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.11 |
| 345 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | SCN5A | 1.11 |
| 346 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.07 |
| 347 | Polymicrogyria | Enrichment | SCN3A | 1.07 |
| 348 | Auditory neuropathy | Enrichment | TUBB4A | 1.05 |
| 349 | Epilepsy, myoclonic juvenile | Enrichment | KCNQ3 | 1.03 |
| 350 | Movement disease | Enrichment | SCN2A | 1.03 |
| 351 | Epicanthus | Enrichment | KCNQ2 | 0.99 |
| 352 | Septooptic dysplasia | Enrichment | FGFR1 | 0.99 |
| 353 | Lip and oral cavity carcinoma | Enrichment | EGFR | 0.99 |
| 354 | Congenital long qt syndrome | Enrichment | SCN5A | 0.99 |
| 355 | Postsynaptic congenital myasthenic syndromes | Enrichment | SCN4A | 0.99 |
| 356 | Cakut | Enrichment | ACTG1 | 0.94 |
| 357 | Multiple sclerosis | Enrichment | LAMB1 | 0.93 |
| 358 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.93 |
| 359 | Medulloblastoma | Enrichment | ANK3 | 0.93 |
| 360 | Lung cancer susceptibility 3 | Enrichment | EGFR | 0.93 |
| 361 | Wolff-parkinson-white syndrome | Enrichment | SCN5A | 0.88 |
| 362 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | SCN5A | 0.88 |
| 363 | Microform holoprosencephaly | Enrichment | FGFR1 | 0.88 |
| 364 | Lobar holoprosencephaly | Enrichment | FGFR1 | 0.88 |
| 365 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.86 |
| 366 | Cardiomyopathy, dilated, 1e | Enrichment | SCN5A | 0.85 |
| 367 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.83 |
| 368 | Neuromuscular disease | Enrichment | SPTAN1 | 0.83 |
| 369 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 0.83 |
| 370 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.83 |
| 371 | Arteriovenous malformations of the brain | Enrichment | EGFR | 0.81 |
| 372 | Congenital myopathy | Enrichment | SCN4A | 0.81 |
| 373 | Hypertelorism | Enrichment | RPS6KA3 | 0.76 |
| 374 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.76 |
| 375 | Myocardial infarction | Enrichment | ITGB3 | 0.75 |
| 376 | Tooth agenesis | Enrichment | FGFR1 | 0.75 |
| 377 | Malaria | Enrichment | SCN8A | 0.73 |
| 378 | Kallmann syndrome | Enrichment | FGFR1 | 0.73 |
| 379 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.72 |
| 380 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 0.70 |
| 381 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 0.66 |
| 382 | Bladder cancer | Enrichment | EGFR | 0.64 |
| 383 | Prostate cancer | Enrichment | EPHB2 | 0.64 |
| 384 | Severe covid-19 | Enrichment | ITGAV | 0.64 |
| 385 | Lung cancer | Enrichment | EGFR | 0.61 |
| 386 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 0.59 |
| 387 | Left ventricular noncompaction | Enrichment | SCN5A | 0.57 |
| 388 | Colorectal cancer | Enrichment | SRC | 0.57 |
| 389 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | RDX | 0.56 |
| 390 | Leber plus disease | Enrichment | TUBB4B | 0.53 |
| 391 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 0.51 |
| 392 | Body mass index quantitative trait locus 11 | Enrichment | SCN1A | 0.44 |
| 393 | Familial isolated dilated cardiomyopathy | Enrichment | SCN5A | 0.42 |
| 394 | Dilated cardiomyopathy | Enrichment | SCN5A | 0.29 |
| 395 | Ovarian cancer | Enrichment | EGFR | 0.23 |
| 396 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.16 |
| 397 | Hereditary retinal dystrophy | Enrichment | LAMA1 | 0.03 |
| 398 | Fundus dystrophy | Enrichment | LAMA1 | 0.03 |