| 1 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, PTEN, STAT3 | 4.50 |
| 2 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL3A1, SMAD3 | 4.50 |
| 3 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.49 |
| 4 | Granulomatous disease, chronic, x-linked | Enrichment | CYBB, NCF1 | 4.19 |
| 5 | Bladder cancer | Enrichment | CTNNB1, EGFR, PTEN | 3.93 |
| 6 | Cowden syndrome 1 | Enrichment | EGFR, PTEN | 3.80 |
| 7 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.80 |
| 8 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.80 |
| 9 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN | 3.65 |
| 10 | Ovarian cancer | Enrichment | AKT1, CTNNB1, EGFR, PTEN | 3.47 |
| 11 | Chronic granulomatous disease | Enrichment | CYBB, NCF1 | 3.42 |
| 12 | Cowden syndrome | Enrichment | AKT1, PTEN | 3.42 |
| 13 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1, SMAD3 | 3.42 |
| 14 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, SMAD3 | 3.39 |
| 15 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 3.24 |
| 16 | Meningioma | Enrichment | AKT1, PTEN | 3.16 |
| 17 | Microcephaly | Enrichment | CTNNB1, EP300, MAPK1, PTPN11 | 3.14 |
| 18 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1, SMAD3 | 3.02 |
| 19 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.96 |
| 20 | Arteriovenous malformations of the brain | Enrichment | EGFR, IL6 | 2.75 |
| 21 | Breast cancer | Enrichment | ABCA1, AKT1, PTEN | 2.71 |
| 22 | Scoliosis | Enrichment | CREBBP, PTPN11 | 2.55 |
| 23 | Colorectal cancer | Enrichment | AKT1, CTNNB1, EP300 | 2.53 |
| 24 | Proteus syndrome | Enrichment | AKT1 | 2.48 |
| 25 | Metachondromatosis | Enrichment | PTPN11 | 2.48 |
| 26 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.48 |
| 27 | Immunodeficiency 34 | Enrichment | CYBB | 2.48 |
| 28 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.48 |
| 29 | Fetal encasement syndrome | Enrichment | CHUK | 2.48 |
| 30 | Encephalopathy, acute, infection-induced 7 | Enrichment | IRF3 | 2.48 |
| 31 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.48 |
| 32 | Immunodeficiency 15b | Enrichment | IKBKB | 2.48 |
| 33 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.48 |
| 34 | Immunodeficiency 15a | Enrichment | IKBKB | 2.48 |
| 35 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.48 |
| 36 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.48 |
| 37 | Cowden syndrome 6 | Enrichment | AKT1 | 2.48 |
| 38 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.48 |
| 39 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.48 |
| 40 | Glioma susceptibility 2 | Enrichment | PTEN | 2.48 |
| 41 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.48 |
| 42 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.48 |
| 43 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.48 |
| 44 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.48 |
| 45 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.48 |
| 46 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.48 |
| 47 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.48 |
| 48 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.48 |
| 49 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.48 |
| 50 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.48 |
| 51 | Atherosclerosis | Enrichment | ALOX5 | 2.48 |
| 52 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.48 |
| 53 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.48 |
| 54 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.48 |
| 55 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.48 |
| 56 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.48 |
| 57 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.48 |
| 58 | Hypoalphalipoproteinemia | Enrichment | ABCA1 | 2.48 |
| 59 | Malignant astrocytoma | Enrichment | PTPN11 | 2.48 |
| 60 | Congenital nervous system abnormality | Enrichment | CREBBP, CTNNB1, PTEN | 2.29 |
| 61 | Nervous system disease | Enrichment | CREBBP, CTNNB1, PTEN | 2.29 |
| 62 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.18 |
| 63 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.18 |
| 64 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.18 |
| 65 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.18 |
| 66 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.18 |
| 67 | Granulomatous disease, chronic, autosomal recessive, 1 | Enrichment | NCF1 | 2.18 |
| 68 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.18 |
| 69 | Tangier disease | Enrichment | ABCA1 | 2.18 |
| 70 | Thumb deformity | Enrichment | CREBBP | 2.18 |
| 71 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.18 |
| 72 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.18 |
| 73 | Cardiomyopathy, dilated, 1p | Enrichment | PLN | 2.18 |
| 74 | Atrial fibrillation, familial, 6 | Enrichment | NPPA | 2.18 |
| 75 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.18 |
| 76 | Thrombocythemia 3 | Enrichment | JAK2 | 2.18 |
| 77 | Cardiomyopathy, familial hypertrophic, 18 | Enrichment | PLN | 2.18 |
| 78 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.18 |
| 79 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.18 |
| 80 | Werner syndrome | Enrichment | PTPN11 | 2.18 |
| 81 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 2.18 |
| 82 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.18 |
| 83 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.18 |
| 84 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.18 |
| 85 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.18 |
| 86 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.18 |
| 87 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.18 |
| 88 | Aortic dissection | Enrichment | COL3A1 | 2.18 |
| 89 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.18 |
| 90 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.18 |
| 91 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.18 |
| 92 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.18 |
| 93 | Polycythemia | Enrichment | JAK2 | 2.18 |
| 94 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.18 |
| 95 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 2.18 |
| 96 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.18 |
| 97 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.18 |
| 98 | Isolated atrial standstill | Enrichment | NPPA | 2.18 |
| 99 | Teratoma | Enrichment | CTNNB1 | 2.18 |
| 100 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.18 |
| 101 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.18 |
| 102 | Gastric cancer | Enrichment | IL1B, PTEN | 2.05 |
| 103 | Hypertrophic cardiomyopathy | Enrichment | PLN, PTPN11 | 2.05 |
| 104 | Hereditary breast carcinoma | Enrichment | AKT1, PTEN | 2.03 |
| 105 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PTEN, PTPN11 | 2.02 |
| 106 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.00 |
| 107 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.00 |
| 108 | Polycythemia vera | Enrichment | JAK2 | 2.00 |
| 109 | Granulomatous disease, chronic, autosomal recessive, 2 | Enrichment | NCF1 | 2.00 |
| 110 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.00 |
| 111 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.00 |
| 112 | Caffey disease | Enrichment | COL1A1 | 2.00 |
| 113 | Atrial standstill 2 | Enrichment | NPPA | 2.00 |
| 114 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.00 |
| 115 | Anus, imperforate | Enrichment | CTNNB1 | 2.00 |
| 116 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.00 |
| 117 | Hypoalphalipoproteinemia, primary, 2 | Enrichment | ABCA1 | 2.00 |
| 118 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.00 |
| 119 | Desmoid tumor | Enrichment | CTNNB1 | 2.00 |
| 120 | Hyper ige syndrome | Enrichment | STAT3 | 2.00 |
| 121 | Intrinsic cardiomyopathy | Enrichment | PLN | 2.00 |
| 122 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.00 |
| 123 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.00 |
| 124 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 2.00 |
| 125 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.00 |
| 126 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.00 |
| 127 | Kaposi sarcoma | Enrichment | IL6 | 1.88 |
| 128 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 1.88 |
| 129 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.88 |
| 130 | Phenylketonuria | Enrichment | COL1A1 | 1.88 |
| 131 | Budd-chiari syndrome | Enrichment | JAK2 | 1.88 |
| 132 | Hypoalphalipoproteinemia, primary, 1 | Enrichment | ABCA1 | 1.88 |
| 133 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.88 |
| 134 | Pilomatrixoma | Enrichment | CTNNB1 | 1.88 |
| 135 | Alazami syndrome | Enrichment | CTNNB1 | 1.88 |
| 136 | Aortic aneurysm | Enrichment | SMAD3 | 1.88 |
| 137 | Craniopharyngioma | Enrichment | CTNNB1 | 1.88 |
| 138 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.88 |
| 139 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.88 |
| 140 | Cerebral malaria | Enrichment | ICAM1 | 1.88 |
| 141 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 1.88 |
| 142 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.88 |
| 143 | Glioma | Enrichment | PTEN | 1.88 |
| 144 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.78 |
| 145 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.78 |
| 146 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.78 |
| 147 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.78 |
| 148 | Lymphoma | Enrichment | PTPN11 | 1.78 |
| 149 | Cardiac arrest | Enrichment | PLN | 1.78 |
| 150 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.78 |
| 151 | Hemangioma | Enrichment | PTEN | 1.78 |
| 152 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.78 |
| 153 | Hemimegalencephaly | Enrichment | PTEN | 1.78 |
| 154 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.78 |
| 155 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.70 |
| 156 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.70 |
| 157 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.70 |
| 158 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.70 |
| 159 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.70 |
| 160 | Renal tubular dysgenesis | Enrichment | AGTR1 | 1.70 |
| 161 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.70 |
| 162 | Keratoconus | Enrichment | COL1A1 | 1.70 |
| 163 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.70 |
| 164 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.70 |
| 165 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.70 |
| 166 | Breast adenocarcinoma | Enrichment | AKT1 | 1.70 |
| 167 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.70 |
| 168 | Hypertrichosis | Enrichment | CREBBP | 1.70 |
| 169 | Classic ehlers-danlos syndrome | Enrichment | COL1A1 | 1.70 |
| 170 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.64 |
| 171 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.64 |
| 172 | Myelofibrosis | Enrichment | JAK2 | 1.64 |
| 173 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.64 |
| 174 | Essential thrombocythemia | Enrichment | JAK2 | 1.64 |
| 175 | Gallbladder cancer | Enrichment | CTNNB1 | 1.64 |
| 176 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.64 |
| 177 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.64 |
| 178 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.58 |
| 179 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.58 |
| 180 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.58 |
| 181 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | NCF1 | 1.53 |
| 182 | Charge syndrome | Enrichment | EP300 | 1.53 |
| 183 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.53 |
| 184 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.53 |
| 185 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | PLN | 1.53 |
| 186 | Coronary heart disease 5 | Enrichment | ABCA1 | 1.53 |
| 187 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.53 |
| 188 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.53 |
| 189 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.53 |
| 190 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.49 |
| 191 | Melanoma | Enrichment | PTEN | 1.49 |
| 192 | Primary bone dysplasia | Enrichment | COL1A1 | 1.49 |
| 193 | Pectus excavatum | Enrichment | PTPN11 | 1.44 |
| 194 | Asthma | Enrichment | ALOX5 | 1.44 |
| 195 | Meningioma, familial | Enrichment | PTEN | 1.44 |
| 196 | Osteochondrodysplasia | Enrichment | COL1A1 | 1.44 |
| 197 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.44 |
| 198 | Uterine corpus cancer | Enrichment | PTEN | 1.44 |
| 199 | Cardiac conduction defect | Enrichment | PLN | 1.41 |
| 200 | Epicanthus | Enrichment | PTPN11 | 1.41 |
| 201 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.41 |
| 202 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.41 |
| 203 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.41 |
| 204 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1 | 1.37 |
| 205 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.37 |
| 206 | Osteoporosis | Enrichment | COL1A1 | 1.34 |
| 207 | Medulloblastoma | Enrichment | CTNNB1 | 1.34 |
| 208 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.34 |
| 209 | Heart disease | Enrichment | CREBBP | 1.34 |
| 210 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | PLN | 1.34 |
| 211 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.31 |
| 212 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.31 |
| 213 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 1.31 |
| 214 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.31 |
| 215 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.31 |
| 216 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11 | 1.31 |
| 217 | Autism spectrum disorder | Enrichment | PTEN, PTPN11 | 1.30 |
| 218 | Rhabdomyosarcoma | Enrichment | PTEN | 1.29 |
| 219 | Gliosarcoma | Enrichment | EGFR | 1.29 |
| 220 | Hypertension, essential | Enrichment | AGTR1 | 1.26 |
| 221 | Sudden infant death syndrome | Enrichment | PLN | 1.26 |
| 222 | Polycystic liver disease | Enrichment | CTNNB1 | 1.26 |
| 223 | Giant cell glioblastoma | Enrichment | EGFR | 1.26 |
| 224 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.26 |
| 225 | Heart, malformation of | Enrichment | MAPK1 | 1.24 |
| 226 | Patent foramen ovale | Enrichment | PTPN11 | 1.24 |
| 227 | Williams-beuren syndrome | Enrichment | NCF1 | 1.19 |
| 228 | Endometrial cancer | Enrichment | PTEN | 1.17 |
| 229 | Hepatoblastoma | Enrichment | CTNNB1 | 1.17 |
| 230 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.15 |
| 231 | Multisystem inflammatory syndrome in children | Enrichment | IRF3 | 1.15 |
| 232 | Noonan syndrome 1 | Enrichment | PTPN11 | 1.13 |
| 233 | Brittle bone disorder | Enrichment | COL1A1 | 1.13 |
| 234 | Malaria | Enrichment | ICAM1 | 1.13 |
| 235 | Familial atrial fibrillation | Enrichment | NPPA | 1.12 |
| 236 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.08 |
| 237 | Rasopathy | Enrichment | PTPN11 | 1.08 |
| 238 | Strabismus | Enrichment | PTPN11 | 1.07 |
| 239 | Prostate cancer | Enrichment | PTEN | 1.04 |
| 240 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.02 |
| 241 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.01 |
| 242 | Lung cancer | Enrichment | EGFR | 1.00 |
| 243 | Cystic fibrosis | Enrichment | TGFB1 | 1.00 |
| 244 | Connective tissue disease | Enrichment | SMAD3 | 1.00 |
| 245 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.98 |
| 246 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.90 |
| 247 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.88 |
| 248 | Nephrotic syndrome | Enrichment | FN1 | 0.88 |
| 249 | Thrombocytopenia | Enrichment | PTPN11 | 0.83 |
| 250 | Hypertelorism | Enrichment | COL1A1 | 0.80 |
| 251 | Familial isolated dilated cardiomyopathy | Enrichment | PLN | 0.79 |
| 252 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.78 |
| 253 | Myeloma, multiple | Enrichment | CREBBP | 0.77 |
| 254 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.77 |
| 255 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.75 |
| 256 | Autism | Enrichment | CREBBP | 0.67 |
| 257 | Dilated cardiomyopathy | Enrichment | PLN | 0.63 |