| 1 | Amyotrophic lateral sclerosis 1 | Enrichment | NEFH, PRPH, SOD1 | 5.69 |
| 2 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ALS2, NEFH, PRPH, SOD1 | 4.80 |
| 3 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 2.58 |
| 4 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.58 |
| 5 | Amyotrophic lateral sclerosis 2, juvenile | Enrichment | ALS2 | 2.58 |
| 6 | Macular degeneration, age-related, 11 | Enrichment | CST3 | 2.58 |
| 7 | Spastic paralysis, infantile-onset ascending | Enrichment | ALS2 | 2.58 |
| 8 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.58 |
| 9 | Developmental and epileptic encephalopathy 41 | Enrichment | SLC1A2 | 2.58 |
| 10 | Charcot-marie-tooth disease, axonal, type 2cc | Enrichment | NEFH | 2.58 |
| 11 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.58 |
| 12 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.58 |
| 13 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.58 |
| 14 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.58 |
| 15 | Papilloma of choroid plexus | Enrichment | TP53 | 2.58 |
| 16 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.58 |
| 17 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.58 |
| 18 | Acatalasemia | Enrichment | CAT | 2.58 |
| 19 | Glutathione peroxidase deficiency | Enrichment | GPX1 | 2.58 |
| 20 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.58 |
| 21 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 2.58 |
| 22 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.58 |
| 23 | Ductal carcinoma in situ | Enrichment | TP53 | 2.58 |
| 24 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 2.58 |
| 25 | Als2-related disorder | Enrichment | ALS2 | 2.58 |
| 26 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.58 |
| 27 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.58 |
| 28 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.58 |
| 29 | Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy | Enrichment | CST3 | 2.58 |
| 30 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.58 |
| 31 | Choroid plexus cancer | Enrichment | TP53 | 2.58 |
| 32 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.58 |
| 33 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.58 |
| 34 | Infantile-onset ascending hereditary spastic paralysis | Enrichment | ALS2 | 2.58 |
| 35 | Cerebral amyloid angiopathy, cst3-related | Enrichment | CST3 | 2.28 |
| 36 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.28 |
| 37 | Cervical cancer | Enrichment | TP53 | 2.28 |
| 38 | Hereditary motor and sensory neuropathy, type iic | Enrichment | NEFH | 2.28 |
| 39 | Primary lateral sclerosis, juvenile | Enrichment | ALS2 | 2.28 |
| 40 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.28 |
| 41 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.28 |
| 42 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.28 |
| 43 | Immunodeficiency 127 | Enrichment | TNF | 2.28 |
| 44 | Congenital fibrosarcoma | Enrichment | TP53 | 2.28 |
| 45 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.28 |
| 46 | Sarcoma | Enrichment | TP53 | 2.28 |
| 47 | Spastic tetraplegia and axial hypotonia, progressive | Enrichment | SOD1 | 2.28 |
| 48 | Cervix carcinoma | Enrichment | TP53 | 2.28 |
| 49 | Hodgkin's lymphoma | Enrichment | TP53 | 2.28 |
| 50 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 2.28 |
| 51 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.28 |
| 52 | Tafro syndrome | Enrichment | MAP2K2 | 2.28 |
| 53 | Osteogenic sarcoma | Enrichment | TP53 | 2.10 |
| 54 | Psoriatic arthritis | Enrichment | TNF | 2.10 |
| 55 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.10 |
| 56 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.10 |
| 57 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.10 |
| 58 | Anaplastic astrocytoma | Enrichment | TP53 | 2.10 |
| 59 | Squamous cell carcinoma | Enrichment | TP53 | 2.10 |
| 60 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 2.10 |
| 61 | Adenocarcinoma | Enrichment | TP53 | 2.10 |
| 62 | Migraine without aura | Enrichment | TNF | 2.10 |
| 63 | Bone osteosarcoma | Enrichment | TP53 | 2.10 |
| 64 | Tyrosinemia | Enrichment | ALS2 | 2.10 |
| 65 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA, SLC1A2 | 2.02 |
| 66 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K2 | 1.98 |
| 67 | Small cell cancer of the lung | Enrichment | TP53 | 1.98 |
| 68 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.98 |
| 69 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.98 |
| 70 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K2 | 1.98 |
| 71 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.98 |
| 72 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.98 |
| 73 | Idiopathic achalasia | Enrichment | NOS1 | 1.98 |
| 74 | Cerebral malaria | Enrichment | TNF | 1.98 |
| 75 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.88 |
| 76 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | Enrichment | SOD1 | 1.88 |
| 77 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 1.88 |
| 78 | Follicular lymphoma | Enrichment | BCL2 | 1.88 |
| 79 | Lymphoma | Enrichment | TP53 | 1.88 |
| 80 | Vascular dementia | Enrichment | TNF | 1.88 |
| 81 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.88 |
| 82 | Li-fraumeni syndrome | Enrichment | TP53 | 1.80 |
| 83 | Adrenocortical carcinoma | Enrichment | TP53 | 1.80 |
| 84 | Breast adenocarcinoma | Enrichment | TP53 | 1.80 |
| 85 | Esophageal cancer | Enrichment | TP53 | 1.73 |
| 86 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.73 |
| 87 | Essential thrombocythemia | Enrichment | TP53 | 1.73 |
| 88 | Motor neuron disease | Enrichment | SOD1 | 1.73 |
| 89 | Gallbladder cancer | Enrichment | TP53 | 1.73 |
| 90 | Early-onset autosomal dominant alzheimer disease | Enrichment | TOMM40 | 1.73 |
| 91 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.73 |
| 92 | Glioma susceptibility 1 | Enrichment | TP53 | 1.68 |
| 93 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.68 |
| 94 | Colorectal cancer | Enrichment | BAX, TP53 | 1.65 |
| 95 | Charge syndrome | Enrichment | TNFRSF1A | 1.63 |
| 96 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.63 |
| 97 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.63 |
| 98 | Primary hyperaldosteronism | Enrichment | TP53 | 1.63 |
| 99 | Juvenile amyotrophic lateral sclerosis | Enrichment | ALS2 | 1.63 |
| 100 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.58 |
| 101 | Familial colorectal cancer | Enrichment | TP53 | 1.58 |
| 102 | Asthma | Enrichment | TNF | 1.54 |
| 103 | Myelodysplastic syndrome | Enrichment | TP53 | 1.54 |
| 104 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.50 |
| 105 | Alzheimer's disease | Enrichment | TNF | 1.47 |
| 106 | Multiple sclerosis | Enrichment | TNFRSF1A | 1.44 |
| 107 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.44 |
| 108 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K2 | 1.41 |
| 109 | Rhabdomyosarcoma | Enrichment | TP53 | 1.38 |
| 110 | Gliosarcoma | Enrichment | TP53 | 1.38 |
| 111 | Giant cell glioblastoma | Enrichment | TP53 | 1.35 |
| 112 | Behcet syndrome | Enrichment | TNFRSF1A | 1.31 |
| 113 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | NEFL | 1.31 |
| 114 | Diffuse large b-cell lymphoma | Enrichment | TP53 | 1.31 |
| 115 | Hepatoblastoma | Enrichment | TP53 | 1.27 |
| 116 | Hepatocellular carcinoma | Enrichment | TP53 | 1.25 |
| 117 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.23 |
| 118 | Noonan syndrome 1 | Enrichment | MAP2K2 | 1.23 |
| 119 | Malaria | Enrichment | TNF | 1.23 |
| 120 | Autoinflammatory disease | Enrichment | TNFRSF1A | 1.21 |
| 121 | Pancreatic cancer | Enrichment | TP53 | 1.19 |
| 122 | Rasopathy | Enrichment | MAP2K2 | 1.18 |
| 123 | Auditory neuropathy | Enrichment | NEFL | 1.18 |
| 124 | Bladder cancer | Enrichment | TP53 | 1.13 |
| 125 | Prostate cancer | Enrichment | TP53 | 1.13 |
| 126 | Peripheral nervous system disease | Enrichment | NEFL | 1.09 |
| 127 | Neuropathy | Enrichment | NEFL | 1.09 |
| 128 | Diamond-blackfan anemia | Enrichment | TP53 | 1.04 |
| 129 | Systemic lupus erythematosus | Enrichment | TNF | 1.01 |
| 130 | Leukemia, acute myeloid | Enrichment | TP53 | 1.00 |
| 131 | Charcot-marie-tooth disease | Enrichment | NEFL | 0.99 |
| 132 | Gastric cancer | Enrichment | TP53 | 0.97 |
| 133 | Hereditary breast carcinoma | Enrichment | TP53 | 0.96 |
| 134 | Sensorineural hearing loss | Enrichment | NEFL | 0.92 |
| 135 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPP3CA | 0.90 |
| 136 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.87 |
| 137 | Myeloma, multiple | Enrichment | TP53 | 0.86 |
| 138 | Breast cancer | Enrichment | TP53 | 0.74 |
| 139 | Ovarian cancer | Enrichment | TP53 | 0.63 |
| 140 | Inherited cancer-predisposing syndrome | Enrichment | TP53 | 0.53 |