| 1 | Hepatocellular carcinoma | Enrichment | APC, CASP8, CTNNB1 | 5.25 |
| 2 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 5.12 |
| 3 | Desmoid tumor | Enrichment | APC, CTNNB1 | 5.12 |
| 4 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 4.82 |
| 5 | Histiocytoid hemangioma | Enrichment | LMNA, VIM | 4.60 |
| 6 | Caspase 8 deficiency | Enrichment | CASP8 | 4.13 |
| 7 | Adult hepatocellular carcinoma | Enrichment | CASP8, CTNNB1 | 4.05 |
| 8 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 3.66 |
| 9 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 3.66 |
| 10 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 3.66 |
| 11 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 3.66 |
| 12 | Premature aging | Enrichment | VIM | 3.66 |
| 13 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 3.66 |
| 14 | Medulloblastoma | Enrichment | APC, CTNNB1 | 3.65 |
| 15 | Deafness, autosomal dominant 51 | Enrichment | TJP2 | 3.53 |
| 16 | Blistering, acantholytic, of oral and laryngeal mucosa | Enrichment | DSG3 | 3.53 |
| 17 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 3.53 |
| 18 | Microcystic stromal tumor | Enrichment | CTNNB1 | 3.53 |
| 19 | Neuromuscular disease | Enrichment | LMNA, SPTAN1 | 3.42 |
| 20 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 3.35 |
| 21 | Cataract 30 | Enrichment | VIM | 3.35 |
| 22 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 3.29 |
| 23 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 3.23 |
| 24 | Cholestasis, progressive familial intrahepatic, 4 | Enrichment | TJP2 | 3.23 |
| 25 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 3.23 |
| 26 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 3.23 |
| 27 | Teratoma | Enrichment | CTNNB1 | 3.23 |
| 28 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 3.18 |
| 29 | Hypercholanemia, familial 1 | Enrichment | TJP2 | 3.05 |
| 30 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 3.05 |
| 31 | Anus, imperforate | Enrichment | CTNNB1 | 3.05 |
| 32 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 3.05 |
| 33 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 3.05 |
| 34 | Pilomatrixoma | Enrichment | CTNNB1 | 2.93 |
| 35 | Alazami syndrome | Enrichment | CTNNB1 | 2.93 |
| 36 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 2.83 |
| 37 | Focal epilepsy | Enrichment | SPTAN1 | 2.81 |
| 38 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical | Enrichment | LMNB1 | 2.79 |
| 39 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.79 |
| 40 | Developmental delay with dysmorphic facies and dental anomalies | Enrichment | SATB1 | 2.79 |
| 41 | Deafness, dystonia, and cerebral hypomyelination | Enrichment | BCAP31 | 2.79 |
| 42 | Adult onset demyelinating leukodystrophy | Enrichment | LMNB1 | 2.79 |
| 43 | Microcephaly 26, primary, autosomal dominant | Enrichment | LMNB1 | 2.79 |
| 44 | Atypical werner syndrome | Enrichment | LMNA | 2.79 |
| 45 | Den hoed-de boer-voisin syndrome | Enrichment | SATB1 | 2.79 |
| 46 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.79 |
| 47 | Atrioventricular block | Enrichment | LMNA | 2.79 |
| 48 | Familial adenomatous polyposis | Enrichment | APC | 2.79 |
| 49 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.79 |
| 50 | Gardner syndrome | Enrichment | APC | 2.79 |
| 51 | 5q22 microdeletion syndrome | Enrichment | APC | 2.79 |
| 52 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.79 |
| 53 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.79 |
| 54 | Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndrome | Enrichment | SATB1 | 2.79 |
| 55 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.79 |
| 56 | Laminopathy | Enrichment | LMNA | 2.79 |
| 57 | Branchiootorenal syndrome 1 | Enrichment | TJP2 | 2.75 |
| 58 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 2.75 |
| 59 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 2.75 |
| 60 | Familial hypercholanemia | Enrichment | TJP2 | 2.75 |
| 61 | Optic atrophy 5 | Enrichment | DNM1L | 2.70 |
| 62 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | Enrichment | DNM1L | 2.70 |
| 63 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.70 |
| 64 | Encephalopathy due to mitochondrial and peroxisomal fission defect | Enrichment | DNM1L | 2.70 |
| 65 | Branchiootorenal syndrome | Enrichment | TJP2 | 2.69 |
| 66 | Gallbladder cancer | Enrichment | CTNNB1 | 2.69 |
| 67 | Cataract 30, multiple types | Enrichment | VIM | 2.66 |
| 68 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 2.63 |
| 69 | Lung cancer | Enrichment | CASP8 | 2.63 |
| 70 | Primary biliary cholangitis | Enrichment | TJP2 | 2.58 |
| 71 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.49 |
| 72 | Hyperaldosteronism, familial, type ii | Enrichment | SATB1 | 2.49 |
| 73 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.49 |
| 74 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.49 |
| 75 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.49 |
| 76 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.49 |
| 77 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.49 |
| 78 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.49 |
| 79 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.49 |
| 80 | Periampullary adenoma | Enrichment | APC | 2.49 |
| 81 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.49 |
| 82 | Autosomal dominant primary microcephaly | Enrichment | LMNB1 | 2.49 |
| 83 | Familial partial lipodystrophy | Enrichment | LMNA | 2.49 |
| 84 | Cadds | Enrichment | BCAP31 | 2.49 |
| 85 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.49 |
| 86 | Restrictive dermopathy 1 | Enrichment | LMNA | 2.31 |
| 87 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 2.31 |
| 88 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 2.31 |
| 89 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 2.31 |
| 90 | Restrictive dermopathy | Enrichment | LMNA | 2.31 |
| 91 | Colon adenocarcinoma | Enrichment | APC | 2.31 |
| 92 | Apc-associated polyposis conditions | Enrichment | APC | 2.31 |
| 93 | Polycystic liver disease | Enrichment | CTNNB1 | 2.30 |
| 94 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 2.30 |
| 95 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 2.26 |
| 96 | Breast cancer | Enrichment | CASP8 | 2.26 |
| 97 | Autosomal dominant optic atrophy, classic form | Enrichment | DNM1L | 2.22 |
| 98 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 2.21 |
| 99 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA | 2.19 |
| 100 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 2.19 |
| 101 | Microtia-anotia | Enrichment | LMNA | 2.19 |
| 102 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 2.19 |
| 103 | Sick sinus syndrome | Enrichment | LMNA | 2.19 |
| 104 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 2.14 |
| 105 | Knobloch syndrome | Enrichment | PAK2 | 2.10 |
| 106 | Developmental and epileptic encephalopathy | Enrichment | SPTAN1 | 2.10 |
| 107 | Familial adenomatous polyposis 1 | Enrichment | APC | 2.09 |
| 108 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 2.09 |
| 109 | Bladder cancer | Enrichment | CTNNB1 | 2.07 |
| 110 | Colorectal cancer | Enrichment | APC, CTNNB1 | 2.06 |
| 111 | Benign epilepsy with centrotemporal spikes | Enrichment | SPTAN1 | 2.04 |
| 112 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 2.03 |
| 113 | Centralopathic epilepsy | Enrichment | SPTAN1 | 2.02 |
| 114 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 2.01 |
| 115 | West syndrome | Enrichment | SPTAN1 | 2.01 |
| 116 | Knobloch syndrome 1 | Enrichment | PAK2 | 2.00 |
| 117 | Bethlem myopathy 1a | Enrichment | LMNA | 1.95 |
| 118 | Ovarian cancer | Enrichment | APC, CTNNB1 | 1.94 |
| 119 | Spastic ataxia | Enrichment | SPTAN1 | 1.93 |
| 120 | Congenital muscular dystrophy | Enrichment | LMNA | 1.89 |
| 121 | Myocarditis | Enrichment | LMNA | 1.89 |
| 122 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.84 |
| 123 | Colonic benign neoplasm | Enrichment | APC | 1.84 |
| 124 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TJP2 | 1.82 |
| 125 | Cardiac conduction defect | Enrichment | LMNA | 1.71 |
| 126 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 1.71 |
| 127 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 1.71 |
| 128 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 1.71 |
| 129 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 1.65 |
| 130 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 1.59 |
| 131 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 1.56 |
| 132 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA | 1.52 |
| 133 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 1.51 |
| 134 | Nervous system disease | Enrichment | CTNNB1 | 1.51 |
| 135 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 1.47 |
| 136 | Microcephaly | Enrichment | CTNNB1 | 1.45 |
| 137 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA | 1.42 |
| 138 | Muscular dystrophy | Enrichment | LMNA | 1.42 |
| 139 | Brugada syndrome | Enrichment | LMNA | 1.38 |
| 140 | Long qt syndrome | Enrichment | LMNA | 1.31 |
| 141 | Peripheral nervous system disease | Enrichment | LMNA | 1.30 |
| 142 | Neuropathy | Enrichment | LMNA | 1.30 |
| 143 | Left ventricular noncompaction | Enrichment | LMNA | 1.26 |
| 144 | Charcot-marie-tooth disease | Enrichment | LMNA | 1.19 |
| 145 | Gastric cancer | Enrichment | APC | 1.17 |
| 146 | Hereditary breast carcinoma | Enrichment | APC | 1.16 |
| 147 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA | 1.08 |
| 148 | Body mass index quantitative trait locus 11 | Enrichment | DNM1L | 1.02 |
| 149 | Dilated cardiomyopathy | Enrichment | LMNA | 0.91 |
| 150 | Mitochondrial disease | Enrichment | DNM1L | 0.80 |
| 151 | Inherited cancer-predisposing syndrome | Enrichment | APC | 0.71 |