| 1 | Hereditary breast carcinoma | Enrichment | APC, ESR1, PTEN, TP53 | 5.18 |
| 2 | Singleton-merten syndrome | Enrichment | IFIH1, RIGI | 5.12 |
| 3 | Breast cancer | Enrichment | APC, ESR1, PTEN, TP53 | 4.26 |
| 4 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 4.12 |
| 5 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 3.80 |
| 6 | Gastric cancer | Enrichment | APC, PTEN, TP53 | 3.64 |
| 7 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN, RIPK1, TP53 | 3.32 |
| 8 | Rhabdomyosarcoma | Enrichment | PTEN, TP53 | 3.05 |
| 9 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TP53 | 2.90 |
| 10 | Hepatoblastoma | Enrichment | APC, TP53 | 2.81 |
| 11 | Hepatocellular carcinoma | Enrichment | APC, TP53 | 2.77 |
| 12 | Multisystem inflammatory syndrome in children | Enrichment | IFIH1, TRAF3 | 2.77 |
| 13 | Ovarian cancer | Enrichment | APC, PTEN, TP53 | 2.55 |
| 14 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.55 |
| 15 | Incontinentia pigmenti | Enrichment | IKBKG | 2.55 |
| 16 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.55 |
| 17 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | Enrichment | VCP | 2.55 |
| 18 | Singleton-merten syndrome 1 | Enrichment | IFIH1 | 2.55 |
| 19 | Blau syndrome | Enrichment | NOD2 | 2.55 |
| 20 | Immunodeficiency 95 | Enrichment | IFIH1 | 2.55 |
| 21 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.55 |
| 22 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.55 |
| 23 | Papilloma of choroid plexus | Enrichment | TP53 | 2.55 |
| 24 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.55 |
| 25 | Immunodeficiency 132a | Enrichment | TRAF3 | 2.55 |
| 26 | Type 1 diabetes mellitus 19 | Enrichment | IFIH1 | 2.55 |
| 27 | Immunodeficiency 132b | Enrichment | TRAF3 | 2.55 |
| 28 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.55 |
| 29 | Multiple congenital anomalies-neurodevelopmental syndrome, x-linked | Enrichment | OTUD5 | 2.55 |
| 30 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.55 |
| 31 | Glioma susceptibility 2 | Enrichment | PTEN | 2.55 |
| 32 | Ductal carcinoma in situ | Enrichment | TP53 | 2.55 |
| 33 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Enrichment | VCP | 2.55 |
| 34 | Singleton-merten syndrome 2 | Enrichment | RIGI | 2.55 |
| 35 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.55 |
| 36 | Neurodevelopmental disorder with hypotonia and seizures | Enrichment | OTUD7A | 2.55 |
| 37 | Autoinflammation with episodic fever and lymphadenopathy | Enrichment | RIPK1 | 2.55 |
| 38 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.55 |
| 39 | Multisystem proteinopathy | Enrichment | VCP | 2.55 |
| 40 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.55 |
| 41 | Aicardi-goutieres syndrome 7 | Enrichment | IFIH1 | 2.55 |
| 42 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.55 |
| 43 | Adult-onset distal myopathy due to vcp mutation | Enrichment | VCP | 2.55 |
| 44 | Familial behcet-like autoinflammatory syndrome | Enrichment | TNFAIP3 | 2.55 |
| 45 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.55 |
| 46 | Choroid plexus cancer | Enrichment | TP53 | 2.55 |
| 47 | Familial adenomatous polyposis | Enrichment | APC | 2.55 |
| 48 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.55 |
| 49 | Gardner syndrome | Enrichment | APC | 2.55 |
| 50 | 5q22 microdeletion syndrome | Enrichment | APC | 2.55 |
| 51 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.55 |
| 52 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.55 |
| 53 | Bladder cancer | Enrichment | PTEN, TP53 | 2.53 |
| 54 | Prostate cancer | Enrichment | PTEN, TP53 | 2.53 |
| 55 | Systemic lupus erythematosus | Enrichment | TNFAIP3, TNIP1 | 2.28 |
| 56 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.25 |
| 57 | Cervical cancer | Enrichment | TP53 | 2.25 |
| 58 | Immunodeficiency 33 | Enrichment | IKBKG | 2.25 |
| 59 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | Enrichment | VCP | 2.25 |
| 60 | Yao syndrome | Enrichment | NOD2 | 2.25 |
| 61 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.25 |
| 62 | Autoinflammatory syndrome, familial, behcet-like 1 | Enrichment | TNFAIP3 | 2.25 |
| 63 | Congenital fibrosarcoma | Enrichment | TP53 | 2.25 |
| 64 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.25 |
| 65 | Sarcoma | Enrichment | TP53 | 2.25 |
| 66 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.25 |
| 67 | Periampullary adenoma | Enrichment | APC | 2.25 |
| 68 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 2.25 |
| 69 | Cervix carcinoma | Enrichment | TP53 | 2.25 |
| 70 | Hodgkin's lymphoma | Enrichment | TP53 | 2.25 |
| 71 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.25 |
| 72 | Immunodeficiency 57 with autoinflammation | Enrichment | RIPK1 | 2.25 |
| 73 | Basal ganglia disease | Enrichment | IFIH1 | 2.25 |
| 74 | Crohn's disease | Enrichment | NOD2 | 2.25 |
| 75 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.25 |
| 76 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.25 |
| 77 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.25 |
| 78 | Submucosal cleft palate | Enrichment | UBB | 2.25 |
| 79 | Cleft hard palate | Enrichment | UBB | 2.25 |
| 80 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | VCP | 2.25 |
| 81 | Inherited cancer-predisposing syndrome | Enrichment | APC, PTEN, TP53 | 2.23 |
| 82 | Desmoid disease, hereditary | Enrichment | APC | 2.08 |
| 83 | Uvula, bifid | Enrichment | UBB | 2.08 |
| 84 | Neurodegeneration with brain iron accumulation 5 | Enrichment | OTUD5 | 2.08 |
| 85 | Osteogenic sarcoma | Enrichment | TP53 | 2.08 |
| 86 | Cleft soft palate | Enrichment | UBB | 2.08 |
| 87 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.08 |
| 88 | Estrogen resistance | Enrichment | ESR1 | 2.08 |
| 89 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 2.08 |
| 90 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | RNF135 | 2.08 |
| 91 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia | Enrichment | VCP | 2.08 |
| 92 | Desmoid tumor | Enrichment | APC | 2.08 |
| 93 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.08 |
| 94 | Anaplastic astrocytoma | Enrichment | TP53 | 2.08 |
| 95 | Squamous cell carcinoma | Enrichment | TP53 | 2.08 |
| 96 | Adenocarcinoma | Enrichment | TP53 | 2.08 |
| 97 | Migraine without aura | Enrichment | ESR1 | 2.08 |
| 98 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.08 |
| 99 | Bone osteosarcoma | Enrichment | TP53 | 2.08 |
| 100 | Colon adenocarcinoma | Enrichment | APC | 2.08 |
| 101 | Apc-associated polyposis conditions | Enrichment | APC | 2.08 |
| 102 | Small cell cancer of the lung | Enrichment | TP53 | 1.95 |
| 103 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.95 |
| 104 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.95 |
| 105 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.95 |
| 106 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.95 |
| 107 | Craniopharyngioma | Enrichment | APC | 1.95 |
| 108 | Glioma | Enrichment | PTEN | 1.95 |
| 109 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.86 |
| 110 | Dementia, lewy body | Enrichment | VCP | 1.86 |
| 111 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.86 |
| 112 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.86 |
| 113 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.86 |
| 114 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.86 |
| 115 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | VCP | 1.86 |
| 116 | Spastic diplegia | Enrichment | IFIH1 | 1.86 |
| 117 | Lymphoma | Enrichment | TP53 | 1.86 |
| 118 | Hemangioma | Enrichment | PTEN | 1.86 |
| 119 | Hemimegalencephaly | Enrichment | PTEN | 1.86 |
| 120 | Herpes simplex virus encephalitis | Enrichment | TRAF3 | 1.86 |
| 121 | Li-fraumeni syndrome | Enrichment | TP53 | 1.78 |
| 122 | Cowden syndrome 1 | Enrichment | PTEN | 1.78 |
| 123 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.78 |
| 124 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | RIPK1 | 1.78 |
| 125 | Adrenocortical carcinoma | Enrichment | TP53 | 1.78 |
| 126 | Il10-related early-onset inflammatory bowel disease | Enrichment | RIPK1 | 1.78 |
| 127 | Breast adenocarcinoma | Enrichment | TP53 | 1.78 |
| 128 | Esophageal cancer | Enrichment | TP53 | 1.71 |
| 129 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.71 |
| 130 | Essential thrombocythemia | Enrichment | TP53 | 1.71 |
| 131 | Gallbladder cancer | Enrichment | TP53 | 1.71 |
| 132 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.71 |
| 133 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.71 |
| 134 | Glioma susceptibility 1 | Enrichment | TP53 | 1.65 |
| 135 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.65 |
| 136 | Colorectal cancer | Enrichment | APC, TP53 | 1.61 |
| 137 | Inflammatory bowel disease 1 | Enrichment | NOD2 | 1.60 |
| 138 | Coronary heart disease 5 | Enrichment | IKBKG | 1.60 |
| 139 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.60 |
| 140 | Progressive non-fluent aphasia | Enrichment | VCP | 1.60 |
| 141 | Primary hyperaldosteronism | Enrichment | TP53 | 1.60 |
| 142 | Colonic benign neoplasm | Enrichment | APC | 1.60 |
| 143 | Cowden syndrome | Enrichment | PTEN | 1.60 |
| 144 | Behavioral variant of frontotemporal dementia | Enrichment | VCP | 1.60 |
| 145 | Aicardi-goutiares syndrome | Enrichment | IFIH1 | 1.60 |
| 146 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.56 |
| 147 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | VCP | 1.56 |
| 148 | Aicardi-goutieres syndrome | Enrichment | IFIH1 | 1.56 |
| 149 | Melanoma | Enrichment | PTEN | 1.56 |
| 150 | Familial colorectal cancer | Enrichment | TP53 | 1.56 |
| 151 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.52 |
| 152 | Immune deficiency disease | Enrichment | RIPK1 | 1.52 |
| 153 | Meningioma, familial | Enrichment | PTEN | 1.52 |
| 154 | Myelodysplastic syndrome | Enrichment | TP53 | 1.52 |
| 155 | Uterine corpus cancer | Enrichment | PTEN | 1.52 |
| 156 | Meningioma | Enrichment | PTEN | 1.48 |
| 157 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.48 |
| 158 | Alzheimer's disease | Enrichment | VCP | 1.45 |
| 159 | Autism spectrum disorder | Enrichment | PTEN, RNF135 | 1.43 |
| 160 | Medulloblastoma | Enrichment | APC | 1.41 |
| 161 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.41 |
| 162 | Gliosarcoma | Enrichment | TP53 | 1.36 |
| 163 | Alzheimer disease, familial, 1 | Enrichment | VCP | 1.33 |
| 164 | Giant cell glioblastoma | Enrichment | TP53 | 1.33 |
| 165 | Behcet syndrome | Enrichment | NOD2 | 1.28 |
| 166 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | VCP | 1.28 |
| 167 | Endometrial cancer | Enrichment | PTEN | 1.24 |
| 168 | Myocardial infarction | Enrichment | ESR1 | 1.22 |
| 169 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.20 |
| 170 | Malaria | Enrichment | IKBKG | 1.20 |
| 171 | Autoinflammatory disease | Enrichment | NOD2 | 1.19 |
| 172 | Pancreatic cancer | Enrichment | TP53 | 1.17 |
| 173 | Diamond-blackfan anemia | Enrichment | TP53 | 1.02 |
| 174 | Leukemia, acute myeloid | Enrichment | TP53 | 0.97 |
| 175 | Myeloma, multiple | Enrichment | TP53 | 0.84 |
| 176 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | VCP | 0.82 |
| 177 | Congenital nervous system abnormality | Enrichment | PTEN | 0.59 |
| 178 | Nervous system disease | Enrichment | PTEN | 0.59 |
| 179 | Complex neurodevelopmental disorder | Enrichment | OTUD5 | 0.53 |