| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.89 |
| 2 | Noonan syndrome 1 | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 6.09 |
| 3 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.96 |
| 4 | Noonan syndrome 3 | Enrichment | PTPN11, RAF1, SOS1 | 5.96 |
| 5 | Rasopathy | Enrichment | MAP2K1, PTPN11, RAF1, SOS1 | 5.86 |
| 6 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.58 |
| 7 | Meningioma | Enrichment | AKT1, PIK3CA, TERT | 5.47 |
| 8 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA, RASA1 | 5.42 |
| 9 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.85 |
| 10 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 4.85 |
| 11 | Oligoarticular juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB | 4.82 |
| 12 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB | 4.82 |
| 13 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 4.51 |
| 14 | Breast cancer | Enrichment | AKT1, IL2, PIK3CA, SHC1 | 4.40 |
| 15 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 4.21 |
| 16 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 4.19 |
| 17 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 4.02 |
| 18 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.99 |
| 19 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.87 |
| 20 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.82 |
| 21 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.82 |
| 22 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.64 |
| 23 | Severe combined immunodeficiency | Enrichment | JAK3, LCK | 3.43 |
| 24 | Lung non-small cell carcinoma | Enrichment | MAP2K1, PIK3CA | 3.26 |
| 25 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.11 |
| 26 | Type 1 diabetes mellitus 10 | Enrichment | IL2RA | 3.05 |
| 27 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 3.05 |
| 28 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 3.05 |
| 29 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | Enrichment | IL2RB | 3.05 |
| 30 | Immunodeficiency 22 | Enrichment | LCK | 3.05 |
| 31 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 3.05 |
| 32 | Colitis | Enrichment | SYK | 3.05 |
| 33 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 3.05 |
| 34 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1 | 2.84 |
| 35 | Hepatocellular carcinoma | Enrichment | PIK3CA, TERT | 2.84 |
| 36 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYB, MYC | 2.80 |
| 37 | Diffuse large b-cell lymphoma | Enrichment | SOCS1, STAT3 | 2.77 |
| 38 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.75 |
| 39 | Immunodeficiency 41 with lymphoproliferation and autoimmunity | Enrichment | IL2RA | 2.75 |
| 40 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.75 |
| 41 | Arthritis | Enrichment | SYK | 2.75 |
| 42 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.75 |
| 43 | Macrodactyly | Enrichment | PIK3CA | 2.66 |
| 44 | Metachondromatosis | Enrichment | PTPN11 | 2.66 |
| 45 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 2.66 |
| 46 | Immunodysregulation, polyendocrinopathy, and enteropathy, x-linked | Enrichment | FOXP3 | 2.66 |
| 47 | Noonan syndrome 4 | Enrichment | SOS1 | 2.66 |
| 48 | Leprosy 4 | Enrichment | LTA | 2.66 |
| 49 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.66 |
| 50 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.66 |
| 51 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.66 |
| 52 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.66 |
| 53 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.66 |
| 54 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.66 |
| 55 | Short syndrome | Enrichment | PIK3R1 | 2.66 |
| 56 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.66 |
| 57 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.66 |
| 58 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.66 |
| 59 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.66 |
| 60 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.66 |
| 61 | Hypospadias | Enrichment | PIK3CA | 2.66 |
| 62 | Rare venous malformation | Enrichment | PIK3CA | 2.66 |
| 63 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.66 |
| 64 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.66 |
| 65 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.66 |
| 66 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.66 |
| 67 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.66 |
| 68 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 2.66 |
| 69 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.66 |
| 70 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.66 |
| 71 | Macrodactyly of toe | Enrichment | PIK3CA | 2.66 |
| 72 | Malignant astrocytoma | Enrichment | PTPN11 | 2.66 |
| 73 | Lung cancer | Enrichment | FASLG, PIK3CA | 2.65 |
| 74 | Bladder cancer | Enrichment | PIK3CA, TERT | 2.60 |
| 75 | Proteus syndrome | Enrichment | AKT1 | 2.59 |
| 76 | Cowden syndrome 6 | Enrichment | AKT1 | 2.59 |
| 77 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.59 |
| 78 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 2.59 |
| 79 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.59 |
| 80 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 2.58 |
| 81 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.58 |
| 82 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 2.58 |
| 83 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.49 |
| 84 | Noonan syndrome 5 | Enrichment | RAF1 | 2.49 |
| 85 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.49 |
| 86 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.49 |
| 87 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.49 |
| 88 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.49 |
| 89 | Immunodeficiency 69 | Enrichment | IFNG | 2.49 |
| 90 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.49 |
| 91 | Melorheostosis | Enrichment | MAP2K1 | 2.49 |
| 92 | Leopard syndrome 2 | Enrichment | RAF1 | 2.49 |
| 93 | Immunodeficiency 31a | Enrichment | STAT1 | 2.49 |
| 94 | Immunodeficiency 31b | Enrichment | STAT1 | 2.49 |
| 95 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.49 |
| 96 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.49 |
| 97 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.49 |
| 98 | Trigonitis | Enrichment | RAF1 | 2.49 |
| 99 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.49 |
| 100 | Gorham's disease | Enrichment | RASA1 | 2.49 |
| 101 | Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency | Enrichment | IKZF3 | 2.49 |
| 102 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.49 |
| 103 | Adenosine deaminase deficiency | Enrichment | JAK3 | 2.45 |
| 104 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 2.35 |
| 105 | Burkitt lymphoma | Enrichment | MYC | 2.35 |
| 106 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.35 |
| 107 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | Enrichment | FOXP3 | 2.35 |
| 108 | Pulmonic stenosis | Enrichment | SOS1 | 2.35 |
| 109 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.35 |
| 110 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.35 |
| 111 | Werner syndrome | Enrichment | PTPN11 | 2.35 |
| 112 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.35 |
| 113 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.35 |
| 114 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 2.29 |
| 115 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.29 |
| 116 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.29 |
| 117 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.29 |
| 118 | Cebalid syndrome | Enrichment | MTOR | 2.29 |
| 119 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.29 |
| 120 | Acute basophilic leukemia | Enrichment | MYB | 2.29 |
| 121 | Angiocentric glioma | Enrichment | MYB | 2.29 |
| 122 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 2.29 |
| 123 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.29 |
| 124 | Idiopathic interstitial pneumonia | Enrichment | TERT | 2.29 |
| 125 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 2.29 |
| 126 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.29 |
| 127 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 2.24 |
| 128 | Immunodeficiency 31c | Enrichment | STAT1 | 2.19 |
| 129 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.18 |
| 130 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | FASLG | 2.18 |
| 131 | Nuchal bleb, familial | Enrichment | SOS1 | 2.18 |
| 132 | Psoriatic arthritis | Enrichment | LTA | 2.18 |
| 133 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.18 |
| 134 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.18 |
| 135 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.18 |
| 136 | Keratoacanthoma | Enrichment | PIK3CA | 2.18 |
| 137 | Niemann-pick disease, type a | Enrichment | SMPD1 | 2.11 |
| 138 | Niemann-pick disease, type b | Enrichment | SMPD1 | 2.11 |
| 139 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 2.11 |
| 140 | Interstitial lung disease | Enrichment | TERT | 2.11 |
| 141 | Macrocytic anemia | Enrichment | TERT | 2.11 |
| 142 | Adenoid cystic carcinoma | Enrichment | MYB | 2.11 |
| 143 | Omenn syndrome | Enrichment | IL2RG | 2.05 |
| 144 | Autoimmune lymphoproliferative syndrome | Enrichment | FASLG | 2.05 |
| 145 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.05 |
| 146 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 2.05 |
| 147 | Cerebrovascular disease | Enrichment | PIK3CA | 2.05 |
| 148 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.05 |
| 149 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.05 |
| 150 | Gingival fibromatosis | Enrichment | SOS1 | 2.05 |
| 151 | Immune deficiency disease | Enrichment | SYK | 2.01 |
| 152 | Combined immunodeficiency | Enrichment | IL2RG | 2.01 |
| 153 | Ichthyosis | Enrichment | IL2RB | 2.01 |
| 154 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 2.01 |
| 155 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 2.01 |
| 156 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.01 |
| 157 | Immune thrombocytopenia | Enrichment | SOCS1 | 2.01 |
| 158 | Tuberous sclerosis 1 | Enrichment | IFNG | 2.01 |
| 159 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.01 |
| 160 | Hepatitis c virus | Enrichment | IFNG | 2.01 |
| 161 | Tuberous sclerosis 2 | Enrichment | IFNG | 2.01 |
| 162 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 2.01 |
| 163 | Immunodeficiency 84 | Enrichment | IKZF3 | 2.01 |
| 164 | Bacteremia 2 | Enrichment | CISH | 2.01 |
| 165 | Hyper ige syndrome | Enrichment | STAT3 | 2.01 |
| 166 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.01 |
| 167 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.99 |
| 168 | Lung sarcomatoid carcinoma | Enrichment | TERT | 1.99 |
| 169 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.99 |
| 170 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.96 |
| 171 | Follicular lymphoma | Enrichment | BCL2 | 1.96 |
| 172 | Lymphoma | Enrichment | PTPN11 | 1.96 |
| 173 | Idiopathic aplastic anemia | Enrichment | PRF1 | 1.96 |
| 174 | Nk-cell enteropathy | Enrichment | JAK3 | 1.94 |
| 175 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.89 |
| 176 | Niemann-pick disease | Enrichment | SMPD1 | 1.89 |
| 177 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.89 |
| 178 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.89 |
| 179 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.89 |
| 180 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.89 |
| 181 | Tuberculosis | Enrichment | CISH | 1.89 |
| 182 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.88 |
| 183 | Type 1 diabetes mellitus | Enrichment | FOXP3 | 1.88 |
| 184 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.88 |
| 185 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.88 |
| 186 | Nevus, epidermal | Enrichment | PIK3CA | 1.81 |
| 187 | Gallbladder cancer | Enrichment | PIK3CA | 1.81 |
| 188 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT | 1.81 |
| 189 | Pulmonary fibrosis | Enrichment | TERT | 1.81 |
| 190 | Adrenocortical carcinoma | Enrichment | TERT | 1.81 |
| 191 | Hoyeraal-hreidarsson syndrome | Enrichment | TERT | 1.81 |
| 192 | Kidney clear cell sarcoma | Enrichment | TERT | 1.81 |
| 193 | Histiocytoid hemangioma | Enrichment | FOS | 1.79 |
| 194 | Lymphoma, non-hodgkin, familial | Enrichment | PRF1 | 1.76 |
| 195 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.75 |
| 196 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT | 1.75 |
| 197 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.75 |
| 198 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.71 |
| 199 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.71 |
| 200 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.71 |
| 201 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.71 |
| 202 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.70 |
| 203 | Hydrops fetalis | Enrichment | FOXP3 | 1.70 |
| 204 | Aplastic anemia | Enrichment | PRF1 | 1.66 |
| 205 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.66 |
| 206 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.65 |
| 207 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.65 |
| 208 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.64 |
| 209 | Pectus excavatum | Enrichment | PTPN11 | 1.62 |
| 210 | Specific learning disability | Enrichment | PTPN11 | 1.62 |
| 211 | Severe covid-19 | Enrichment | JAK3 | 1.60 |
| 212 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.59 |
| 213 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.59 |
| 214 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.59 |
| 215 | Epicanthus | Enrichment | PTPN11 | 1.58 |
| 216 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.58 |
| 217 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.58 |
| 218 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.58 |
| 219 | Ovarian cancer | Enrichment | AKT1, PIK3CA | 1.56 |
| 220 | Aortic valve disease 1 | Enrichment | SOS1 | 1.55 |
| 221 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.52 |
| 222 | Leukemia, chronic lymphocytic | Enrichment | IKZF3 | 1.50 |
| 223 | Lynch syndrome | Enrichment | PIK3CA | 1.49 |
| 224 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.48 |
| 225 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.42 |
| 226 | Rare genetic intellectual disability | Enrichment | MTOR | 1.42 |
| 227 | Patent foramen ovale | Enrichment | PTPN11 | 1.41 |
| 228 | Melanoma, cutaneous malignant 1 | Enrichment | TERT | 1.37 |
| 229 | Interstitial lung disease 2 | Enrichment | TERT | 1.37 |
| 230 | Endometrial cancer | Enrichment | PIK3CA | 1.34 |
| 231 | Centronuclear myopathy | Enrichment | FOXP3 | 1.34 |
| 232 | Myocardial infarction | Enrichment | LTA | 1.32 |
| 233 | Dyskeratosis congenita | Enrichment | TERT | 1.32 |
| 234 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.31 |
| 235 | Autoinflammatory disease | Enrichment | PRF1 | 1.29 |
| 236 | Scoliosis | Enrichment | PTPN11 | 1.29 |
| 237 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 1.28 |
| 238 | Hepatoblastoma | Enrichment | TERT | 1.28 |
| 239 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.25 |
| 240 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.25 |
| 241 | Strabismus | Enrichment | PTPN11 | 1.24 |
| 242 | Prostate cancer | Enrichment | PIK3CA | 1.21 |
| 243 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.19 |
| 244 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.18 |
| 245 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 1.16 |
| 246 | Malaria | Enrichment | CISH | 1.14 |
| 247 | Differentiated thyroid carcinoma | Enrichment | TERT | 1.14 |
| 248 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.12 |
| 249 | Gastric cancer | Enrichment | PIK3CA | 1.04 |
| 250 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.04 |
| 251 | Leukemia, acute myeloid | Enrichment | TERT | 1.01 |
| 252 | Thrombocytopenia | Enrichment | PTPN11 | 1.00 |
| 253 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.99 |
| 254 | Left ventricular noncompaction | Enrichment | RAF1 | 0.97 |
| 255 | Hypertelorism | Enrichment | PIK3CA | 0.96 |
| 256 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.93 |
| 257 | Systemic lupus erythematosus | Enrichment | SOCS1 | 0.92 |
| 258 | Type 2 diabetes mellitus | Enrichment | IRS1 | 0.89 |
| 259 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.80 |
| 260 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.64 |
| 261 | Microcephaly | Enrichment | PTPN11 | 0.62 |
| 262 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.59 |