| 1 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, FZD2, WNT5A | 5.77 |
| 2 | Autosomal dominant robinow syndrome | Enrichment | DVL1, FZD2, WNT5A | 5.77 |
| 3 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, FZD2, WNT5A | 5.38 |
| 4 | Autosomal recessive robinow syndrome | Enrichment | DVL1, FZD2, WNT5A | 5.08 |
| 5 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, MAP2K2, RAF1 | 4.85 |
| 6 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, EGF, PIK3CA | 4.46 |
| 7 | Colorectal cancer | Enrichment | AKT1, CTNNB1, FGFR2, PIK3CA, PIK3R1, PLA2G2A | 4.29 |
| 8 | Noonan syndrome 1 | Enrichment | MAP2K1, MAP2K2, RAF1 | 4.27 |
| 9 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 4.21 |
| 10 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 4.21 |
| 11 | Rasopathy | Enrichment | MAP2K1, MAP2K2, RAF1 | 4.10 |
| 12 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.77 |
| 13 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.77 |
| 14 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.77 |
| 15 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 3.57 |
| 16 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 3.57 |
| 17 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.47 |
| 18 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, LRP5 | 3.25 |
| 19 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 3.25 |
| 20 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, FZD2 | 3.25 |
| 21 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 3.25 |
| 22 | Malaria | Enrichment | CISH, IKBKG, TNF | 3.17 |
| 23 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.08 |
| 24 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.08 |
| 25 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 2.93 |
| 26 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA | 2.93 |
| 27 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 2.93 |
| 28 | Exudative vitreoretinopathy | Enrichment | CTNNB1, LRP5 | 2.81 |
| 29 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 2.70 |
| 30 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 2.70 |
| 31 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 2.61 |
| 32 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.61 |
| 33 | Lung non-small cell carcinoma | Enrichment | MAP2K1, PIK3CA | 2.52 |
| 34 | Proteus syndrome | Enrichment | AKT1 | 2.49 |
| 35 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.49 |
| 36 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.49 |
| 37 | Incontinentia pigmenti | Enrichment | IKBKG | 2.49 |
| 38 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.49 |
| 39 | Noonan syndrome 5 | Enrichment | RAF1 | 2.49 |
| 40 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.49 |
| 41 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.49 |
| 42 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.49 |
| 43 | Fetal encasement syndrome | Enrichment | CHUK | 2.49 |
| 44 | Aortic aneurysm, familial thoracic 8 | Enrichment | PRKG1 | 2.49 |
| 45 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.49 |
| 46 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.49 |
| 47 | Immunodeficiency 15b | Enrichment | IKBKB | 2.49 |
| 48 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.49 |
| 49 | Immunodeficiency 15a | Enrichment | IKBKB | 2.49 |
| 50 | Chromosome 2q37 deletion syndrome | Enrichment | HDAC4 | 2.49 |
| 51 | Auriculocondylar syndrome 4 | Enrichment | HDAC9 | 2.49 |
| 52 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.49 |
| 53 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.49 |
| 54 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.49 |
| 55 | Coronary artery disease, autosomal dominant, 1 | Enrichment | MEF2A | 2.49 |
| 56 | Melorheostosis | Enrichment | MAP2K1 | 2.49 |
| 57 | Leopard syndrome 2 | Enrichment | RAF1 | 2.49 |
| 58 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.49 |
| 59 | Cowden syndrome 6 | Enrichment | AKT1 | 2.49 |
| 60 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.49 |
| 61 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.49 |
| 62 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | Enrichment | HDAC4 | 2.49 |
| 63 | Trigonitis | Enrichment | RAF1 | 2.49 |
| 64 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.49 |
| 65 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.49 |
| 66 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.49 |
| 67 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.49 |
| 68 | Nik deficiency | Enrichment | MAP3K14 | 2.49 |
| 69 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.49 |
| 70 | Meningioma | Enrichment | AKT1, PIK3CA | 2.45 |
| 71 | Nk-cell enteropathy | Enrichment | IGF1R, PIK3CB | 2.37 |
| 72 | Aortic aneurysm, familial thoracic 1 | Enrichment | GATA4, MYLK | 2.31 |
| 73 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 2.19 |
| 74 | Immunodeficiency 33 | Enrichment | IKBKG | 2.19 |
| 75 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.19 |
| 76 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.19 |
| 77 | Long qt syndrome 14 | Enrichment | CALM1 | 2.19 |
| 78 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.19 |
| 79 | Cebalid syndrome | Enrichment | MTOR | 2.19 |
| 80 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.19 |
| 81 | Cone-rod dystrophy 14 | Enrichment | GUCA1A | 2.19 |
| 82 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.19 |
| 83 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.19 |
| 84 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 2.19 |
| 85 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.19 |
| 86 | Tafro syndrome | Enrichment | MAP2K2 | 2.19 |
| 87 | Macrodactyly | Enrichment | PIK3CA | 2.12 |
| 88 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.12 |
| 89 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.12 |
| 90 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.12 |
| 91 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.12 |
| 92 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.12 |
| 93 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.12 |
| 94 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.12 |
| 95 | Omodysplasia 2 | Enrichment | FZD2 | 2.12 |
| 96 | Apert syndrome | Enrichment | FGFR2 | 2.12 |
| 97 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.12 |
| 98 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 2.12 |
| 99 | Atrioventricular septal defect 4 | Enrichment | GATA4 | 2.12 |
| 100 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.12 |
| 101 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 2.12 |
| 102 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.12 |
| 103 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.12 |
| 104 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.12 |
| 105 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.12 |
| 106 | Short syndrome | Enrichment | PIK3R1 | 2.12 |
| 107 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.12 |
| 108 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.12 |
| 109 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 2.12 |
| 110 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.12 |
| 111 | Question mark ears, isolated | Enrichment | EDN1 | 2.12 |
| 112 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.12 |
| 113 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.12 |
| 114 | Atrial septal defect 2 | Enrichment | GATA4 | 2.12 |
| 115 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.12 |
| 116 | Testicular anomalies with or without congenital heart disease | Enrichment | GATA4 | 2.12 |
| 117 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.12 |
| 118 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.12 |
| 119 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.12 |
| 120 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.12 |
| 121 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.12 |
| 122 | 8p23.1 microdeletion syndrome | Enrichment | GATA4 | 2.12 |
| 123 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.12 |
| 124 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.12 |
| 125 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.12 |
| 126 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.12 |
| 127 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.12 |
| 128 | Hypospadias | Enrichment | PIK3CA | 2.12 |
| 129 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.12 |
| 130 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.12 |
| 131 | Rare venous malformation | Enrichment | PIK3CA | 2.12 |
| 132 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.12 |
| 133 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.12 |
| 134 | Partial atrioventricular septal defect with ventricular hypoplasia | Enrichment | GATA4 | 2.12 |
| 135 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.12 |
| 136 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.12 |
| 137 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.12 |
| 138 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.12 |
| 139 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.12 |
| 140 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.12 |
| 141 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.12 |
| 142 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.12 |
| 143 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.12 |
| 144 | Macrodactyly of toe | Enrichment | PIK3CA | 2.12 |
| 145 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.12 |
| 146 | Heart, malformation of | Enrichment | GATA4, MAPK1 | 2.09 |
| 147 | Cone dystrophy 3 | Enrichment | GUCA1A | 2.01 |
| 148 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.01 |
| 149 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 2.01 |
| 150 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 1.96 |
| 151 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 1.92 |
| 152 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.89 |
| 153 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.89 |
| 154 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.89 |
| 155 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.89 |
| 156 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.89 |
| 157 | Familial atrial fibrillation | Enrichment | GATA4, NPPA | 1.85 |
| 158 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.82 |
| 159 | Van buchem disease | Enrichment | LRP5 | 1.82 |
| 160 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.82 |
| 161 | Aural atresia, congenital | Enrichment | FGFR2 | 1.82 |
| 162 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.82 |
| 163 | Pfeiffer syndrome | Enrichment | FGFR2 | 1.82 |
| 164 | Albinism, oculocutaneous, type vi | Enrichment | MYEF2 | 1.82 |
| 165 | Jackson-weiss syndrome | Enrichment | FGFR2 | 1.82 |
| 166 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.82 |
| 167 | Atrial fibrillation, familial, 6 | Enrichment | NPPA | 1.82 |
| 168 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 1.82 |
| 169 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.82 |
| 170 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.82 |
| 171 | Spondyloepiphyseal dysplasia, nishimura type | Enrichment | MIR140 | 1.82 |
| 172 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.82 |
| 173 | Immunodeficiency 127 | Enrichment | TNF | 1.82 |
| 174 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.82 |
| 175 | Split hand-foot malformation | Enrichment | FGFR2 | 1.82 |
| 176 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.82 |
| 177 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.82 |
| 178 | 46,xy sex reversal 3 | Enrichment | GATA4 | 1.82 |
| 179 | Immune system disease | Enrichment | PIK3CD | 1.82 |
| 180 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.82 |
| 181 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.82 |
| 182 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.82 |
| 183 | Isolated atrial standstill | Enrichment | NPPA | 1.82 |
| 184 | Teratoma | Enrichment | CTNNB1 | 1.82 |
| 185 | Osteosclerosis | Enrichment | LRP5 | 1.82 |
| 186 | Choroidal dystrophy, central areolar, 1 | Enrichment | GUCA1A | 1.79 |
| 187 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.79 |
| 188 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.71 |
| 189 | Bladder cancer | Enrichment | CTNNB1, PIK3CA | 1.69 |
| 190 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.65 |
| 191 | Noonan syndrome 3 | Enrichment | RAF1 | 1.65 |
| 192 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.65 |
| 193 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.65 |
| 194 | Crouzon syndrome | Enrichment | FGFR2 | 1.65 |
| 195 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.65 |
| 196 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.65 |
| 197 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2 | 1.65 |
| 198 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.65 |
| 199 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 1.65 |
| 200 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.65 |
| 201 | Osteoporosis, juvenile | Enrichment | WNT3A | 1.65 |
| 202 | Psoriatic arthritis | Enrichment | TNF | 1.65 |
| 203 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.65 |
| 204 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.65 |
| 205 | Atrial standstill 2 | Enrichment | NPPA | 1.65 |
| 206 | Anus, imperforate | Enrichment | CTNNB1 | 1.65 |
| 207 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.65 |
| 208 | Bacteremia 2 | Enrichment | CISH | 1.65 |
| 209 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.65 |
| 210 | Desmoid tumor | Enrichment | CTNNB1 | 1.65 |
| 211 | Hyper ige syndrome | Enrichment | STAT3 | 1.65 |
| 212 | Migraine without aura | Enrichment | TNF | 1.65 |
| 213 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.65 |
| 214 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 1.65 |
| 215 | Keratoacanthoma | Enrichment | PIK3CA | 1.65 |
| 216 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.59 |
| 217 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.59 |
| 218 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1 | 1.59 |
| 219 | Coronary heart disease 5 | Enrichment | IKBKG | 1.54 |
| 220 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.54 |
| 221 | Neurodegeneration with brain iron accumulation 1 | Enrichment | MIR103A2 | 1.52 |
| 222 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYLK | 1.52 |
| 223 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 1.52 |
| 224 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.52 |
| 225 | Saethre-chotzen syndrome | Enrichment | FGFR2 | 1.52 |
| 226 | Pilomatrixoma | Enrichment | CTNNB1 | 1.52 |
| 227 | Alazami syndrome | Enrichment | CTNNB1 | 1.52 |
| 228 | Orofacial cleft | Enrichment | LRP6 | 1.52 |
| 229 | Retinopathy of prematurity | Enrichment | LRP5 | 1.52 |
| 230 | Cerebrovascular disease | Enrichment | PIK3CA | 1.52 |
| 231 | Craniopharyngioma | Enrichment | CTNNB1 | 1.52 |
| 232 | Tuberculosis | Enrichment | CISH | 1.52 |
| 233 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.52 |
| 234 | Cerebral malaria | Enrichment | TNF | 1.52 |
| 235 | Transposition of the great arteries | Enrichment | GATA4 | 1.52 |
| 236 | Glioma | Enrichment | FGFR2 | 1.52 |
| 237 | Vitreoretinopathy | Enrichment | LRP5 | 1.52 |
| 238 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.52 |
| 239 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.50 |
| 240 | Familial colorectal cancer | Enrichment | PLA2G2A | 1.50 |
| 241 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.45 |
| 242 | Specific learning disability | Enrichment | MAPK1 | 1.45 |
| 243 | Hemifacial hyperplasia | Enrichment | FGFR2 | 1.43 |
| 244 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.43 |
| 245 | Visceral myopathy 1 | Enrichment | MYLK | 1.43 |
| 246 | Ventricular septal defect 1 | Enrichment | GATA4 | 1.43 |
| 247 | Congenital heart defects, multiple types, 4 | Enrichment | GATA4 | 1.43 |
| 248 | Vascular dementia | Enrichment | TNF | 1.43 |
| 249 | Ovarian cancer | Enrichment | AKT1, CTNNB1, PIK3CA | 1.38 |
| 250 | Gastric cancer | Enrichment | FGFR2, PIK3CA | 1.38 |
| 251 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYLK, PRKG1 | 1.36 |
| 252 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.36 |
| 253 | Cone-rod dystrophy 6 | Enrichment | GUCA1A | 1.35 |
| 254 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.35 |
| 255 | Isolated macular dystrophy | Enrichment | GUCA1A | 1.35 |
| 256 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.35 |
| 257 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.35 |
| 258 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.35 |
| 259 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.35 |
| 260 | Renal tubular dysgenesis | Enrichment | AGT | 1.35 |
| 261 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.35 |
| 262 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.35 |
| 263 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.35 |
| 264 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.35 |
| 265 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.32 |
| 266 | Rare genetic intellectual disability | Enrichment | MTOR | 1.32 |
| 267 | Nevus, epidermal | Enrichment | PIK3CA | 1.28 |
| 268 | Leukoencephalopathy with vanishing white matter 1 | Enrichment | EIF2B5 | 1.28 |
| 269 | Oculocutaneous albinism | Enrichment | MYEF2 | 1.28 |
| 270 | Leukoencephalopathy with vanishing white matter 5 | Enrichment | EIF2B5 | 1.23 |
| 271 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.23 |
| 272 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.23 |
| 273 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 1.18 |
| 274 | Leukoencephalopathy with vanishing white matter | Enrichment | EIF2B5 | 1.18 |
| 275 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.18 |
| 276 | Microcephaly | Enrichment | CTNNB1, IGF1R, MAPK1 | 1.17 |
| 277 | Myeloma, multiple | Enrichment | HDAC4, PIK3R2 | 1.17 |
| 278 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.13 |
| 279 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.12 |
| 280 | Asthma | Enrichment | TNF | 1.09 |
| 281 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.06 |
| 282 | Long qt syndrome 1 | Enrichment | CALM1 | 1.03 |
| 283 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.03 |
| 284 | Alzheimer's disease | Enrichment | TNF | 1.03 |
| 285 | Long qt syndrome | Enrichment | CALM1 | 1.02 |
| 286 | Osteoporosis | Enrichment | LRP5 | 0.99 |
| 287 | Medulloblastoma | Enrichment | CTNNB1 | 0.99 |
| 288 | Heart disease | Enrichment | GATA4 | 0.99 |
| 289 | Usher syndrome | Enrichment | GUCA1A | 0.99 |
| 290 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.99 |
| 291 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.99 |
| 292 | Left ventricular noncompaction | Enrichment | RAF1 | 0.97 |
| 293 | Hydrocephalus | Enrichment | FGFR2 | 0.97 |
| 294 | Lynch syndrome | Enrichment | PIK3CA | 0.97 |
| 295 | Breast cancer | Enrichment | AKT1, PIK3CA | 0.95 |
| 296 | Hypertension, essential | Enrichment | AGT | 0.92 |
| 297 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.89 |
| 298 | Patent foramen ovale | Enrichment | GATA4 | 0.89 |
| 299 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 0.87 |
| 300 | Craniosynostosis | Enrichment | FGFR2 | 0.85 |
| 301 | Hepatoblastoma | Enrichment | CTNNB1 | 0.83 |
| 302 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPP3CA | 0.82 |
| 303 | Tooth agenesis | Enrichment | LRP6 | 0.81 |
| 304 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.80 |
| 305 | Brittle bone disorder | Enrichment | LRP5 | 0.79 |
| 306 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA | 0.78 |
| 307 | Tetralogy of fallot | Enrichment | GATA4 | 0.74 |
| 308 | Prostate cancer | Enrichment | PIK3CA | 0.70 |
| 309 | Cone-rod dystrophy 2 | Enrichment | GUCA1A | 0.70 |
| 310 | Lung cancer | Enrichment | PIK3CA | 0.66 |
| 311 | Cystic fibrosis | Enrichment | TGFB1 | 0.66 |
| 312 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.64 |
| 313 | Systemic lupus erythematosus | Enrichment | TNF | 0.59 |
| 314 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.52 |
| 315 | Hereditary breast ovarian cancer syndrome | Enrichment | EIF2B5 | 0.46 |
| 316 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GATA4 | 0.46 |
| 317 | Retinitis pigmentosa | Enrichment | GUCA1A | 0.30 |
| 318 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.26 |
| 319 | Nervous system disease | Enrichment | CTNNB1 | 0.26 |
| 320 | Hereditary retinal dystrophy | Enrichment | GUCA1A | 0.21 |
| 321 | Fundus dystrophy | Enrichment | GUCA1A | 0.21 |