| 1 | Chronic granulomatous disease | Enrichment | CYBA, CYBB, NCF1, NCF2, NCF4 | 10.56 |
| 2 | C1q deficiency 1 | Enrichment | C1QA, C1QB, C1QC | 7.62 |
| 3 | Immunodeficiency due to a classical component pathway complement deficiency | Enrichment | C1QA, C1QB, C1QC | 5.88 |
| 4 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.19 |
| 5 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.19 |
| 6 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | Enrichment | TREM2, TYROBP | 5.07 |
| 7 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.71 |
| 8 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.71 |
| 9 | Granulomatous disease, chronic, autosomal recessive, 2 | Enrichment | NCF1, NCF2 | 4.60 |
| 10 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.60 |
| 11 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.60 |
| 12 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.41 |
| 13 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.41 |
| 14 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42, PTPN11 | 4.41 |
| 15 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.41 |
| 16 | Granulomatous disease, chronic, x-linked | Enrichment | CYBB, NCF1 | 4.30 |
| 17 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 4.02 |
| 18 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.02 |
| 19 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.02 |
| 20 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 4.02 |
| 21 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.87 |
| 22 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.54 |
| 23 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.46 |
| 24 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.42 |
| 25 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.30 |
| 26 | Chromosome 1p36 deletion syndrome | Enrichment | PDPN, PRKCZ | 3.30 |
| 27 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.24 |
| 28 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.18 |
| 29 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 2.97 |
| 30 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.80 |
| 31 | Macrodactyly | Enrichment | PIK3CA | 2.59 |
| 32 | Metachondromatosis | Enrichment | PTPN11 | 2.59 |
| 33 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.59 |
| 34 | Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | Enrichment | RAC2 | 2.59 |
| 35 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.59 |
| 36 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.59 |
| 37 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.59 |
| 38 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.59 |
| 39 | Bleeding disorder, platelet-type, 11 | Enrichment | GP6 | 2.59 |
| 40 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.59 |
| 41 | Immunodeficiency 81 | Enrichment | LCP2 | 2.59 |
| 42 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.59 |
| 43 | Short syndrome | Enrichment | PIK3R1 | 2.59 |
| 44 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.59 |
| 45 | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | Enrichment | RAC2 | 2.59 |
| 46 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.59 |
| 47 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.59 |
| 48 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.59 |
| 49 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.59 |
| 50 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.59 |
| 51 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.59 |
| 52 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.59 |
| 53 | Immunodeficiency 22 | Enrichment | LCK | 2.59 |
| 54 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.59 |
| 55 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.59 |
| 56 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.59 |
| 57 | Thrombocytopenia, anemia, and myelofibrosis | Enrichment | MPIG6B | 2.59 |
| 58 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.59 |
| 59 | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | Enrichment | RAC2 | 2.59 |
| 60 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.59 |
| 61 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.59 |
| 62 | Hypospadias | Enrichment | PIK3CA | 2.59 |
| 63 | Colitis | Enrichment | SYK | 2.59 |
| 64 | Rare venous malformation | Enrichment | PIK3CA | 2.59 |
| 65 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.59 |
| 66 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.59 |
| 67 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.59 |
| 68 | Infantile lad-like disease due to rac2 deficiency | Enrichment | RAC2 | 2.59 |
| 69 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.59 |
| 70 | Reticular dysgenesis-like severe combined immunodeficiency | Enrichment | RAC2 | 2.59 |
| 71 | Nocarh syndrome | Enrichment | CDC42 | 2.59 |
| 72 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.59 |
| 73 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.59 |
| 74 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.59 |
| 75 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.59 |
| 76 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.59 |
| 77 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.59 |
| 78 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.59 |
| 79 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.59 |
| 80 | Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | Enrichment | RAC2 | 2.59 |
| 81 | Macrodactyly of toe | Enrichment | PIK3CA | 2.59 |
| 82 | Malignant astrocytoma | Enrichment | PTPN11 | 2.59 |
| 83 | Granulomatous disease, chronic, autosomal recessive, 4 | Enrichment | CYBA | 2.53 |
| 84 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.53 |
| 85 | Immunodeficiency 34 | Enrichment | CYBB | 2.53 |
| 86 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Enrichment | RAC3 | 2.53 |
| 87 | C1q deficiency 3 | Enrichment | C1QC | 2.53 |
| 88 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | Enrichment | ARPC1B | 2.53 |
| 89 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.53 |
| 90 | Alzheimer disease 17 | Enrichment | TREM2 | 2.53 |
| 91 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.53 |
| 92 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | Enrichment | TREM2 | 2.53 |
| 93 | Autoinflammation with pulmonary and cutaneous vasculitis | Enrichment | HCK | 2.53 |
| 94 | C1q deficiency 2 | Enrichment | C1QB | 2.53 |
| 95 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.53 |
| 96 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.29 |
| 97 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.29 |
| 98 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.29 |
| 99 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.29 |
| 100 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.29 |
| 101 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.29 |
| 102 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.29 |
| 103 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.29 |
| 104 | Werner syndrome | Enrichment | PTPN11 | 2.29 |
| 105 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.29 |
| 106 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.29 |
| 107 | Immune system disease | Enrichment | CDC42 | 2.29 |
| 108 | Immunodeficiency 52 | Enrichment | LAT | 2.29 |
| 109 | Arthritis | Enrichment | SYK | 2.29 |
| 110 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.29 |
| 111 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 2.23 |
| 112 | Granulomatous disease, chronic, autosomal recessive, 1 | Enrichment | NCF1 | 2.23 |
| 113 | Granulomatous disease, chronic, autosomal recessive, 3 | Enrichment | NCF4 | 2.23 |
| 114 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 2.23 |
| 115 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.23 |
| 116 | Immunodeficiency 72 with autoinflammation and lymphoproliferation | Enrichment | NCKAP1L | 2.23 |
| 117 | Immunodeficiency 72 | Enrichment | NCKAP1L | 2.23 |
| 118 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.11 |
| 119 | Caffey disease | Enrichment | COL1A1 | 2.11 |
| 120 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 2.11 |
| 121 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.11 |
| 122 | Keratoacanthoma | Enrichment | PIK3CA | 2.11 |
| 123 | Hypertelorism | Enrichment | COL1A1, PIK3CA | 2.10 |
| 124 | Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia | Enrichment | CYBA | 2.05 |
| 125 | Autoimmune polyendocrine syndrome type 1 | Enrichment | CYBA | 2.05 |
| 126 | Phenylketonuria | Enrichment | COL1A1 | 1.99 |
| 127 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.99 |
| 128 | Cerebrovascular disease | Enrichment | PIK3CA | 1.99 |
| 129 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.99 |
| 130 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.99 |
| 131 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.89 |
| 132 | Lymphoma | Enrichment | PTPN11 | 1.89 |
| 133 | Hemimegalencephaly | Enrichment | PIK3CA | 1.89 |
| 134 | Systemic lupus erythematosus 16 | Enrichment | C1QA | 1.83 |
| 135 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.81 |
| 136 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.81 |
| 137 | Keratoconus | Enrichment | COL1A1 | 1.81 |
| 138 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.81 |
| 139 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.81 |
| 140 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.81 |
| 141 | Nevus, epidermal | Enrichment | PIK3CA | 1.75 |
| 142 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.75 |
| 143 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.75 |
| 144 | Gallbladder cancer | Enrichment | PIK3CA | 1.75 |
| 145 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.75 |
| 146 | Semantic dementia | Enrichment | TREM2 | 1.69 |
| 147 | Early-onset autosomal dominant alzheimer disease | Enrichment | TREM2 | 1.69 |
| 148 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 1.68 |
| 149 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.64 |
| 150 | Arteriovenous malformation | Enrichment | PIK3CA | 1.64 |
| 151 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.64 |
| 152 | Cowden syndrome | Enrichment | PIK3CA | 1.64 |
| 153 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.59 |
| 154 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | NCF1 | 1.58 |
| 155 | Progressive non-fluent aphasia | Enrichment | TREM2 | 1.58 |
| 156 | Behavioral variant of frontotemporal dementia | Enrichment | TREM2 | 1.58 |
| 157 | Pectus excavatum | Enrichment | PTPN11 | 1.55 |
| 158 | Immune deficiency disease | Enrichment | SYK | 1.55 |
| 159 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.55 |
| 160 | Specific learning disability | Enrichment | PTPN11 | 1.55 |
| 161 | Epicanthus | Enrichment | PTPN11 | 1.52 |
| 162 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.52 |
| 163 | Meningioma | Enrichment | PIK3CA | 1.52 |
| 164 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.52 |
| 165 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.52 |
| 166 | Frontotemporal dementia 1 | Enrichment | TREM2 | 1.50 |
| 167 | Combined immunodeficiency | Enrichment | ARPC1B | 1.50 |
| 168 | Combined t cell and b cell immunodeficiency | Enrichment | ARPC1B | 1.50 |
| 169 | Combined t and b cell immunodeficiency | Enrichment | ARPC1B | 1.50 |
| 170 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.48 |
| 171 | Lynch syndrome | Enrichment | PIK3CA | 1.42 |
| 172 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11 | 1.42 |
| 173 | Patent foramen ovale | Enrichment | PTPN11 | 1.34 |
| 174 | Endometrial cancer | Enrichment | PIK3CA | 1.28 |
| 175 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.26 |
| 176 | Williams-beuren syndrome | Enrichment | NCF1 | 1.24 |
| 177 | Noonan syndrome 1 | Enrichment | PTPN11 | 1.24 |
| 178 | Scoliosis | Enrichment | PTPN11 | 1.22 |
| 179 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.19 |
| 180 | Rasopathy | Enrichment | PTPN11 | 1.19 |
| 181 | Strabismus | Enrichment | PTPN11 | 1.17 |
| 182 | Bladder cancer | Enrichment | PIK3CA | 1.14 |
| 183 | Prostate cancer | Enrichment | PIK3CA | 1.14 |
| 184 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.13 |
| 185 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.11 |
| 186 | Lung cancer | Enrichment | PIK3CA | 1.10 |
| 187 | Severe combined immunodeficiency | Enrichment | LCK | 1.09 |
| 188 | Gastric cancer | Enrichment | PIK3CA | 0.98 |
| 189 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.98 |
| 190 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1 | 0.97 |
| 191 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.97 |
| 192 | Systemic lupus erythematosus | Enrichment | ITGAM | 0.96 |
| 193 | Thrombocytopenia | Enrichment | PTPN11 | 0.93 |
| 194 | Myeloma, multiple | Enrichment | PIK3R2 | 0.87 |
| 195 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.87 |
| 196 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | TREM2 | 0.80 |
| 197 | Breast cancer | Enrichment | PIK3CA | 0.75 |
| 198 | Ovarian cancer | Enrichment | PIK3CA | 0.64 |
| 199 | Autism spectrum disorder | Enrichment | PTPN11 | 0.61 |
| 200 | Microcephaly | Enrichment | PTPN11 | 0.56 |
| 201 | Inherited cancer-predisposing syndrome | Enrichment | PTPN11 | 0.54 |
| 202 | Complex neurodevelopmental disorder | Enrichment | RAC3 | 0.51 |