| 1 | Inflammatory myofibroblastic tumor | Enrichment | ALK, CARS1, CLTC, RANBP2, TPM3, TPM4 | 11.03 |
| 2 | Bladder cancer | Enrichment | CDKN1A, PIK3CA, RB1, TP53 | 4.42 |
| 3 | Lymphomatoid papulosis | Enrichment | NPM1, TYK2 | 4.36 |
| 4 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | NPM1, TYK2 | 4.36 |
| 5 | Acute promyelocytic leukemia | Enrichment | NPM1, PRKAR1A | 4.25 |
| 6 | Lip and oral cavity carcinoma | Enrichment | PIK3CA, RB1, TP53 | 4.23 |
| 7 | Glomerulopathy with fibronectin deposits 2 | Enrichment | ATIC, FN1 | 3.89 |
| 8 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 3.89 |
| 9 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.89 |
| 10 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 3.89 |
| 11 | Bone osteosarcoma | Enrichment | RB1, TP53 | 3.89 |
| 12 | Breast cancer | Enrichment | JUN, KLC1, PIK3CA, SHC1, TP53 | 3.86 |
| 13 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.59 |
| 14 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.59 |
| 15 | Cerebrovascular disease | Enrichment | PIK3CA, RNF213 | 3.59 |
| 16 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 3.19 |
| 17 | Adrenocortical carcinoma | Enrichment | PRKAR1A, TP53 | 3.19 |
| 18 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, IL10RA | 3.19 |
| 19 | Breast adenocarcinoma | Enrichment | PIK3CA, TP53 | 3.19 |
| 20 | Lung squamous cell carcinoma | Enrichment | ALK, PIK3CA | 3.19 |
| 21 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 3.05 |
| 22 | Fetal hemoglobin quantitative trait locus 5 | Enrichment | BCL11A | 3.05 |
| 23 | Carney complex, type 1 | Enrichment | PRKAR1A | 3.05 |
| 24 | Neuroblastoma 3 | Enrichment | ALK | 3.05 |
| 25 | Myxoma, intracardiac | Enrichment | PRKAR1A | 3.05 |
| 26 | Intellectual developmental disorder with persistence of fetal hemoglobin | Enrichment | BCL11A | 3.05 |
| 27 | Bcl11a-related intellectual disability | Enrichment | BCL11A | 3.05 |
| 28 | Acute myeloid leukemia with multilineage dysplasia | Enrichment | NPM1 | 3.05 |
| 29 | Acute myeloid leukemia with npm1 somatic mutations | Enrichment | NPM1 | 3.05 |
| 30 | Alk-positive anaplastic large cell lymphoma | Enrichment | ALK | 3.05 |
| 31 | Alk-positive large b-cell lymphoma | Enrichment | ALK | 3.05 |
| 32 | Gallbladder cancer | Enrichment | PIK3CA, TP53 | 3.05 |
| 33 | Differentiated thyroid carcinoma | Enrichment | ALK, TFG, TPR | 3.04 |
| 34 | Lymphoma, non-hodgkin, familial | Enrichment | PRF1, TP53 | 2.93 |
| 35 | Adult hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 2.82 |
| 36 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.75 |
| 37 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.75 |
| 38 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.75 |
| 39 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | Enrichment | EIF2AK3 | 2.75 |
| 40 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | PRKAR1A | 2.75 |
| 41 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.75 |
| 42 | Acrodysostosis | Enrichment | PRKAR1A | 2.75 |
| 43 | Acute myeloid leukemia without maturation | Enrichment | NPM1 | 2.75 |
| 44 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.75 |
| 45 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 2.63 |
| 46 | Facial hypertrichosis | Enrichment | MECP2 | 2.63 |
| 47 | Skin/hair/eye pigmentation, variation in, 8 | Enrichment | IRF4 | 2.63 |
| 48 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.63 |
| 49 | Intellectual developmental disorder, x-linked, syndromic, lubs type | Enrichment | MECP2 | 2.63 |
| 50 | Immunodeficiency 131 | Enrichment | IRF4 | 2.63 |
| 51 | Autism x-linked 3 | Enrichment | MECP2 | 2.63 |
| 52 | Immunodeficiency 48 | Enrichment | ZAP70 | 2.63 |
| 53 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.63 |
| 54 | Syndromic x-linked intellectual disability lubs type | Enrichment | MECP2 | 2.63 |
| 55 | Autoimmune disease, multisystem, infantile-onset, 2 | Enrichment | ZAP70 | 2.63 |
| 56 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.63 |
| 57 | Trilateral retinoblastoma | Enrichment | RB1 | 2.63 |
| 58 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.63 |
| 59 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.63 |
| 60 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.63 |
| 61 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.63 |
| 62 | Whipple disease | Enrichment | IRF4 | 2.63 |
| 63 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.63 |
| 64 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 2.63 |
| 65 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.63 |
| 66 | Zap70-related severe combined immunodeficiency | Enrichment | ZAP70 | 2.63 |
| 67 | Lung oat cell carcinoma | Enrichment | RB1 | 2.63 |
| 68 | Menkes disease | Enrichment | EIF2AK3 | 2.58 |
| 69 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 2.58 |
| 70 | Carney complex variant | Enrichment | PRKAR1A | 2.45 |
| 71 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 2.45 |
| 72 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 2.45 |
| 73 | 2p21 microdeletion syndrome | Enrichment | PPM1B | 2.45 |
| 74 | Lung cancer susceptibility 3 | Enrichment | RB1, TP53 | 2.42 |
| 75 | Acute myeloid leukemia with maturation | Enrichment | NPM1 | 2.35 |
| 76 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | Enrichment | BCL11A | 2.35 |
| 77 | Ovarian cancer | Enrichment | ALK, PIK3CA, RB1, TP53 | 2.34 |
| 78 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 2.33 |
| 79 | Encephalopathy, neonatal severe, due to mecp2 mutations | Enrichment | MECP2 | 2.33 |
| 80 | Inflammatory bowel disease 28, autosomal recessive | Enrichment | IL10RA | 2.33 |
| 81 | Premature ovarian failure 3 | Enrichment | AGO2 | 2.33 |
| 82 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.33 |
| 83 | Sweeney-cox syndrome | Enrichment | TWIST1 | 2.33 |
| 84 | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | Enrichment | AGO1 | 2.33 |
| 85 | Intellectual developmental disorder, x-linked, syndromic 13 | Enrichment | MECP2 | 2.33 |
| 86 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | Enrichment | DNMT1 | 2.33 |
| 87 | X-linked intellectual disability-psychosis-macroorchidism syndrome | Enrichment | MECP2 | 2.33 |
| 88 | Inflammatory bowel disease 28 | Enrichment | IL10RA | 2.33 |
| 89 | Familial retinoblastoma | Enrichment | RB1 | 2.33 |
| 90 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 2.33 |
| 91 | Progressive bulbar palsy | Enrichment | MECP2 | 2.33 |
| 92 | Bruxism | Enrichment | MECP2 | 2.33 |
| 93 | Rhabdomyosarcoma | Enrichment | ALK, TP53 | 2.31 |
| 94 | Inherited cancer-predisposing syndrome | Enrichment | ALK, PRKAR1A | 2.24 |
| 95 | Noonan syndrome 3 | Enrichment | CLTC | 2.21 |
| 96 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 2.21 |
| 97 | Macrodactyly | Enrichment | PIK3CA | 2.18 |
| 98 | Perry syndrome | Enrichment | DCTN1 | 2.18 |
| 99 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.18 |
| 100 | Immunodeficiency 50 | Enrichment | MSN | 2.18 |
| 101 | Aica-ribosiduria due to atic deficiency | Enrichment | ATIC | 2.18 |
| 102 | Immunodeficiency 35 | Enrichment | TYK2 | 2.18 |
| 103 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.18 |
| 104 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.18 |
| 105 | Congenital myopathy 4b, autosomal recessive | Enrichment | TPM3 | 2.18 |
| 106 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.18 |
| 107 | Spastic paraplegia 57, autosomal recessive | Enrichment | TFG | 2.18 |
| 108 | Accelerated tumor formation | Enrichment | MDM2 | 2.18 |
| 109 | Halperin-birk syndrome | Enrichment | SEC31A | 2.18 |
| 110 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.18 |
| 111 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.18 |
| 112 | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | Enrichment | PPFIBP1 | 2.18 |
| 113 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.18 |
| 114 | Bleeding disorder, platelet-type, 25 | Enrichment | TPM4 | 2.18 |
| 115 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.18 |
| 116 | Short syndrome | Enrichment | PIK3R1 | 2.18 |
| 117 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.18 |
| 118 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.18 |
| 119 | Graft-versus-host disease | Enrichment | IL10 | 2.18 |
| 120 | Papilloma of choroid plexus | Enrichment | TP53 | 2.18 |
| 121 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.18 |
| 122 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.18 |
| 123 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.18 |
| 124 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.18 |
| 125 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.18 |
| 126 | Neuronopathy, distal hereditary motor, autosomal dominant 14 | Enrichment | DCTN1 | 2.18 |
| 127 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.18 |
| 128 | Immunodeficiency 31a | Enrichment | STAT1 | 2.18 |
| 129 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.18 |
| 130 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.18 |
| 131 | Immunodeficiency 31b | Enrichment | STAT1 | 2.18 |
| 132 | Ductal carcinoma in situ | Enrichment | TP53 | 2.18 |
| 133 | Intellectual developmental disorder, autosomal recessive 79 | Enrichment | TPR | 2.18 |
| 134 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.18 |
| 135 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.18 |
| 136 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.18 |
| 137 | Hypospadias | Enrichment | PIK3CA | 2.18 |
| 138 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.18 |
| 139 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.18 |
| 140 | Choroid plexus cancer | Enrichment | TP53 | 2.18 |
| 141 | Rare venous malformation | Enrichment | PIK3CA | 2.18 |
| 142 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.18 |
| 143 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.18 |
| 144 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.18 |
| 145 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.18 |
| 146 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.18 |
| 147 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.18 |
| 148 | Familial acute necrotizing encephalopathy | Enrichment | RANBP2 | 2.18 |
| 149 | Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation | Enrichment | TFG | 2.18 |
| 150 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.18 |
| 151 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.18 |
| 152 | Congenital generalized hypercontractile muscle stiffness syndrome | Enrichment | TPM3 | 2.18 |
| 153 | Macrodactyly of toe | Enrichment | PIK3CA | 2.18 |
| 154 | Diffuse large b-cell lymphoma | Enrichment | STAT3, TP53 | 2.16 |
| 155 | Melanocytic nevus syndrome, congenital | Enrichment | ALK | 2.15 |
| 156 | Neuroblastoma | Enrichment | ALK | 2.15 |
| 157 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.15 |
| 158 | Craniosynostosis 1 | Enrichment | TWIST1 | 2.15 |
| 159 | Laryngomalacia | Enrichment | MECP2 | 2.15 |
| 160 | Retinoblastoma | Enrichment | RB1 | 2.15 |
| 161 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 2.15 |
| 162 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.15 |
| 163 | Neuropathy, hereditary sensory, type ie | Enrichment | DNMT1 | 2.15 |
| 164 | Hypotrichosis 8 | Enrichment | RB1 | 2.15 |
| 165 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.15 |
| 166 | Hyper ige syndrome | Enrichment | STAT3 | 2.15 |
| 167 | Lessel-kreienkamp syndrome | Enrichment | AGO2 | 2.15 |
| 168 | Hepatocellular carcinoma | Enrichment | PIK3CA, TP53 | 2.04 |
| 169 | Attention deficit-hyperactivity disorder | Enrichment | KIF5B, MECP2 | 2.04 |
| 170 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.03 |
| 171 | Saethre-chotzen syndrome | Enrichment | TWIST1 | 2.03 |
| 172 | Immunodeficiency, common variable, 1 | Enrichment | ICOS | 2.03 |
| 173 | Lynch syndrome 4 | Enrichment | RB1 | 2.03 |
| 174 | Sick sinus syndrome | Enrichment | MECP2 | 2.03 |
| 175 | Non-syndromic bicoronal craniosynostosis | Enrichment | TWIST1 | 2.03 |
| 176 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.93 |
| 177 | Idiopathic aplastic anemia | Enrichment | PRF1 | 1.93 |
| 178 | Polydactyly, postaxial, type a1 | Enrichment | BCL11A | 1.88 |
| 179 | Corpus callosum, agenesis of | Enrichment | BCL11A | 1.88 |
| 180 | Isolated corpus callosum agenesis | Enrichment | BCL11A | 1.88 |
| 181 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | BCL11A | 1.88 |
| 182 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.88 |
| 183 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Enrichment | TPR | 1.88 |
| 184 | Cataract 35 | Enrichment | MYH9 | 1.88 |
| 185 | Cervical cancer | Enrichment | TP53 | 1.88 |
| 186 | Welander distal myopathy | Enrichment | SQSTM1 | 1.88 |
| 187 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.88 |
| 188 | Melanoma, cutaneous malignant 6 | Enrichment | KLC1 | 1.88 |
| 189 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.88 |
| 190 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.88 |
| 191 | Immunodeficiency 31c | Enrichment | STAT1 | 1.88 |
| 192 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 1.88 |
| 193 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.88 |
| 194 | Congenital fibrosarcoma | Enrichment | TP53 | 1.88 |
| 195 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.88 |
| 196 | Sarcoma | Enrichment | TP53 | 1.88 |
| 197 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 1.88 |
| 198 | Cervix carcinoma | Enrichment | TP53 | 1.88 |
| 199 | Hodgkin's lymphoma | Enrichment | TP53 | 1.88 |
| 200 | Paget's disease of bone | Enrichment | SQSTM1 | 1.88 |
| 201 | Distal hereditary motor neuropathy type 7 | Enrichment | DCTN1 | 1.88 |
| 202 | Skeletal muscle disease | Enrichment | KIF5B | 1.88 |
| 203 | Acute necrotizing encephalopathy of childhood | Enrichment | RANBP2 | 1.88 |
| 204 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.88 |
| 205 | Submucosal cleft palate | Enrichment | UBB | 1.88 |
| 206 | Cleft hard palate | Enrichment | UBB | 1.88 |
| 207 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1 | 1.88 |
| 208 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | BCL11A | 1.85 |
| 209 | Angelman syndrome | Enrichment | MECP2 | 1.85 |
| 210 | Prostate cancer | Enrichment | PIK3CA, TP53 | 1.80 |
| 211 | Rett syndrome | Enrichment | MECP2 | 1.79 |
| 212 | Hereditary sensory and autonomic neuropathy type 1 | Enrichment | DNMT1 | 1.79 |
| 213 | Focal epilepsy | Enrichment | MECP2 | 1.79 |
| 214 | Dyskeratosis congenita | Enrichment | NPM1 | 1.78 |
| 215 | Rett syndrome, congenital variant | Enrichment | MECP2 | 1.73 |
| 216 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.73 |
| 217 | Lung cancer | Enrichment | ALK, PIK3CA | 1.72 |
| 218 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.70 |
| 219 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.70 |
| 220 | Uvula, bifid | Enrichment | UBB | 1.70 |
| 221 | Cleft soft palate | Enrichment | UBB | 1.70 |
| 222 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.70 |
| 223 | Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | RANBP2 | 1.70 |
| 224 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.70 |
| 225 | Microcephaly, developmental delay, and brittle hair syndrome | Enrichment | CARS1 | 1.70 |
| 226 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.70 |
| 227 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.70 |
| 228 | Anaplastic astrocytoma | Enrichment | TP53 | 1.70 |
| 229 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.70 |
| 230 | Moyamoya disease 2 | Enrichment | RNF213 | 1.70 |
| 231 | Adenocarcinoma | Enrichment | TP53 | 1.70 |
| 232 | Cap myopathy | Enrichment | TPM3 | 1.70 |
| 233 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.70 |
| 234 | Keratoacanthoma | Enrichment | PIK3CA | 1.70 |
| 235 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1, TP53 | 1.70 |
| 236 | Aplastic anemia | Enrichment | PRF1 | 1.63 |
| 237 | Combined immunodeficiency | Enrichment | ZAP70 | 1.59 |
| 238 | Combined t cell and b cell immunodeficiency | Enrichment | ZAP70 | 1.59 |
| 239 | Specific learning disability | Enrichment | MAPK1 | 1.59 |
| 240 | Combined t and b cell immunodeficiency | Enrichment | ZAP70 | 1.59 |
| 241 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | RANBP2 | 1.58 |
| 242 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.58 |
| 243 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1 | 1.58 |
| 244 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.58 |
| 245 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.58 |
| 246 | Ectodermal dysplasia | Enrichment | RANBP2 | 1.58 |
| 247 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.58 |
| 248 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.58 |
| 249 | Paget's disease of bone 2 | Enrichment | SQSTM1 | 1.58 |
| 250 | Intermediate nemaline myopathy | Enrichment | TPM3 | 1.58 |
| 251 | Middle aortic syndrome | Enrichment | RNF213 | 1.58 |
| 252 | Systemic lupus erythematosus | Enrichment | IL10, MECP2 | 1.56 |
| 253 | Leukemia, acute myeloid | Enrichment | NPM1, TP53 | 1.54 |
| 254 | Charcot-marie-tooth disease | Enrichment | DCTN1, TFG | 1.52 |
| 255 | Stereotypic movement disorder | Enrichment | MECP2 | 1.52 |
| 256 | Pituitary stalk interruption syndrome | Enrichment | DNMT1 | 1.49 |
| 257 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | RANBP2 | 1.48 |
| 258 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.48 |
| 259 | Kearns-sayre syndrome | Enrichment | KIF5B | 1.48 |
| 260 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.48 |
| 261 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.48 |
| 262 | Chondrosarcoma, extraskeletal myxoid | Enrichment | TFG | 1.48 |
| 263 | Lymphoma | Enrichment | TP53 | 1.48 |
| 264 | Hemangioma | Enrichment | RNF213 | 1.48 |
| 265 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.48 |
| 266 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | RANBP2 | 1.48 |
| 267 | Hemimegalencephaly | Enrichment | PIK3CA | 1.48 |
| 268 | Genetic motor neuron disease | Enrichment | DCTN1 | 1.48 |
| 269 | Gastric cancer | Enrichment | PIK3CA, TP53 | 1.48 |
| 270 | Nephrotic syndrome | Enrichment | ATIC, FN1 | 1.48 |
| 271 | Microcephaly | Enrichment | MAPK1, MECP2 | 1.47 |
| 272 | Complex neurodevelopmental disorder | Enrichment | AGO1, AGO2 | 1.46 |
| 273 | Hereditary breast carcinoma | Enrichment | PIK3CA, TP53 | 1.46 |
| 274 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.41 |
| 275 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.41 |
| 276 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.41 |
| 277 | Moyamoya disease 1 | Enrichment | RNF213 | 1.41 |
| 278 | Hemangioma, capillary infantile | Enrichment | MYH9 | 1.41 |
| 279 | Inguinal hernia | Enrichment | RNF213 | 1.41 |
| 280 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.41 |
| 281 | Heart, malformation of | Enrichment | MAPK1 | 1.38 |
| 282 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC | 1.36 |
| 283 | Esophageal cancer | Enrichment | TP53 | 1.34 |
| 284 | Nevus, epidermal | Enrichment | PIK3CA | 1.34 |
| 285 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.34 |
| 286 | Mitochondrial dna depletion syndrome 4a | Enrichment | RANBP2 | 1.34 |
| 287 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.34 |
| 288 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.34 |
| 289 | Essential thrombocythemia | Enrichment | TP53 | 1.34 |
| 290 | Childhood-onset nemaline myopathy | Enrichment | TPM3 | 1.34 |
| 291 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.34 |
| 292 | Moyamoya angiopathy | Enrichment | RNF213 | 1.34 |
| 293 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.34 |
| 294 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC | 1.31 |
| 295 | Schizophrenia | Enrichment | BIRC6 | 1.29 |
| 296 | Glioma susceptibility 1 | Enrichment | TP53 | 1.29 |
| 297 | Mitochondrial dna depletion syndrome 4b | Enrichment | RANBP2 | 1.29 |
| 298 | Myeloma, multiple | Enrichment | PIK3R2, TP53 | 1.27 |
| 299 | Autoinflammatory disease | Enrichment | PRF1 | 1.26 |
| 300 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | DCTN1, SQSTM1 | 1.25 |
| 301 | Rheumatoid arthritis | Enrichment | IL10 | 1.24 |
| 302 | Arteriovenous malformation | Enrichment | PIK3CA | 1.24 |
| 303 | Primary hyperaldosteronism | Enrichment | TP53 | 1.24 |
| 304 | Cowden syndrome | Enrichment | PIK3CA | 1.24 |
| 305 | Behavioral variant of frontotemporal dementia | Enrichment | SQSTM1 | 1.24 |
| 306 | Trichothiodystrophy | Enrichment | CARS1 | 1.24 |
| 307 | Amyotrophic lateral sclerosis 1 | Enrichment | DCTN1 | 1.19 |
| 308 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.19 |
| 309 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1 | 1.19 |
| 310 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.19 |
| 311 | Nephrocalcinosis | Enrichment | RNF213 | 1.19 |
| 312 | Nemaline myopathy | Enrichment | TPM3 | 1.19 |
| 313 | Autosomal dominant macrothrombocytopenia | Enrichment | TPM4 | 1.19 |
| 314 | Familial colorectal cancer | Enrichment | TP53 | 1.19 |
| 315 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.19 |
| 316 | Frontotemporal dementia 1 | Enrichment | DCTN1 | 1.15 |
| 317 | Myelodysplastic syndrome | Enrichment | TP53 | 1.15 |
| 318 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.15 |
| 319 | Severe combined immunodeficiency | Enrichment | ZAP70 | 1.12 |
| 320 | Meningioma | Enrichment | PIK3CA | 1.11 |
| 321 | Dystonia | Enrichment | MECP2 | 1.10 |
| 322 | Non-syndromic x-linked intellectual disability | Enrichment | MECP2 | 1.09 |
| 323 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.08 |
| 324 | Epilepsy | Enrichment | MECP2 | 1.04 |
| 325 | Congenital myopathy 4a, autosomal dominant | Enrichment | TPM3 | 1.02 |
| 326 | Lynch syndrome | Enrichment | PIK3CA | 1.02 |
| 327 | Dilated cardiomyopathy | Enrichment | KIF5B, VCL | 1.01 |
| 328 | Hypertension | Enrichment | MYH9 | 1.00 |
| 329 | Gliosarcoma | Enrichment | TP53 | 1.00 |
| 330 | Giant cell glioblastoma | Enrichment | TP53 | 0.97 |
| 331 | Human immunodeficiency virus type 1 | Enrichment | IL10 | 0.95 |
| 332 | Spastic ataxia | Enrichment | DNMT1 | 0.93 |
| 333 | Behcet syndrome | Enrichment | IL10 | 0.92 |
| 334 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | TFG | 0.92 |
| 335 | Endometrial cancer | Enrichment | PIK3CA | 0.88 |
| 336 | Centronuclear myopathy | Enrichment | TPM3 | 0.88 |
| 337 | Hepatoblastoma | Enrichment | TP53 | 0.88 |
| 338 | Tooth agenesis | Enrichment | RANBP2 | 0.87 |
| 339 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.85 |
| 340 | Pancreatic cancer | Enrichment | TP53 | 0.81 |
| 341 | Autism | Enrichment | MECP2 | 0.80 |
| 342 | Diamond-blackfan anemia | Enrichment | TP53 | 0.67 |
| 343 | Congenital nervous system abnormality | Enrichment | MECP2 | 0.65 |
| 344 | Nervous system disease | Enrichment | MECP2 | 0.65 |
| 345 | Autism spectrum disorder | Enrichment | MECP2 | 0.64 |
| 346 | Myopathy | Enrichment | TPM3 | 0.63 |
| 347 | Type 2 diabetes mellitus | Enrichment | IRS1 | 0.61 |
| 348 | Hypertrophic cardiomyopathy | Enrichment | KIF5B | 0.60 |
| 349 | Thrombocytopenia | Enrichment | MYH9 | 0.56 |
| 350 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.55 |
| 351 | Hypertelorism | Enrichment | PIK3CA | 0.53 |
| 352 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MYH9 | 0.53 |
| 353 | Familial isolated dilated cardiomyopathy | Enrichment | VCL | 0.53 |
| 354 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.51 |
| 355 | Autosomal recessive non-syndromic intellectual disability | Enrichment | TPR | 0.49 |
| 356 | Deafness, autosomal recessive | Enrichment | MYH9 | 0.46 |
| 357 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9 | 0.46 |
| 358 | Rare genetic deafness | Enrichment | MYH9 | 0.39 |
| 359 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MYH9 | 0.35 |