| 1 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TGFBR2 | 9.88 |
| 2 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 8.38 |
| 3 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 8.38 |
| 4 | Collagen vi-related dystrophies | Enrichment | COL6A1, COL6A2, COL6A3 | 7.15 |
| 5 | Intermediate collagen vi-related muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 7.15 |
| 6 | Bethlem muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 6.55 |
| 7 | Ullrich congenital muscular dystrophy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 6.16 |
| 8 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, COL5A1, COL5A2, TGFBR2 | 5.98 |
| 9 | Bethlem myopathy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 5.61 |
| 10 | Connective tissue disease | Enrichment | COL11A1, COL2A1, COL5A1, TGFBR2 | 5.03 |
| 11 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1, FN1 | 4.76 |
| 12 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1, FN1 | 4.76 |
| 13 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL11A2, COL2A1 | 4.76 |
| 14 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL11A2, COL2A1 | 4.76 |
| 15 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.76 |
| 16 | Fibrochondrogenesis | Enrichment | COL11A1, COL11A2 | 4.76 |
| 17 | Stickler syndrome, type ii | Enrichment | COL11A1, COL1A1 | 4.76 |
| 18 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.76 |
| 19 | Osteoporosis | Enrichment | COL1A1, COL1A2, SRC | 4.61 |
| 20 | Telecanthus | Enrichment | COL11A1, COL5A2 | 4.28 |
| 21 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 4.28 |
| 22 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.28 |
| 23 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.28 |
| 24 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 3.98 |
| 25 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.98 |
| 26 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 3.98 |
| 27 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.59 |
| 28 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.59 |
| 29 | Keratoconus | Enrichment | COL1A1, COL5A2 | 3.59 |
| 30 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.59 |
| 31 | Nevus, epidermal | Enrichment | COL7A1, PIK3CA | 3.44 |
| 32 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.44 |
| 33 | Colorectal cancer | Enrichment | AKT1, PIK3CA, PIK3R1, SRC | 3.32 |
| 34 | Adult hepatocellular carcinoma | Enrichment | CASP8, PIK3CA | 3.21 |
| 35 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.21 |
| 36 | Myopathy | Enrichment | COL6A1, COL6A2, COL6A3 | 3.21 |
| 37 | Marfan syndrome | Enrichment | COL2A1, TGFBR2 | 3.12 |
| 38 | Stickler syndrome | Enrichment | COL11A1, COL2A1 | 3.12 |
| 39 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.12 |
| 40 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.03 |
| 41 | Thrombocytopenia | Enrichment | ITGB3, PTPN11, SRC | 2.97 |
| 42 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 2.95 |
| 43 | Meningioma | Enrichment | AKT1, PIK3CA | 2.95 |
| 44 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 2.88 |
| 45 | Hypertelorism | Enrichment | COL11A1, COL1A1, PIK3CA | 2.87 |
| 46 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 2.75 |
| 47 | Myopia | Enrichment | COL11A1, COL2A1 | 2.75 |
| 48 | Lynch syndrome | Enrichment | PIK3CA, TGFBR2 | 2.75 |
| 49 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, PTPN11 | 2.75 |
| 50 | Beckwith-wiedemann syndrome | Enrichment | COL6A1, COL7A1 | 2.59 |
| 51 | Heart, malformation of | Enrichment | COL11A2, COL2A1 | 2.59 |
| 52 | Hepatocellular carcinoma | Enrichment | CASP8, PIK3CA | 2.42 |
| 53 | Breast cancer | Enrichment | AKT1, CASP8, PIK3CA | 2.42 |
| 54 | Noonan syndrome 1 | Enrichment | CBL, PTPN11 | 2.38 |
| 55 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.38 |
| 56 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.38 |
| 57 | Macrodactyly | Enrichment | PIK3CA | 2.38 |
| 58 | Proteus syndrome | Enrichment | AKT1 | 2.38 |
| 59 | Epidermolysis bullosa dystrophica, pretibial | Enrichment | COL7A1 | 2.38 |
| 60 | Epidermolysis bullosa dystrophica, autosomal dominant | Enrichment | COL7A1 | 2.38 |
| 61 | Metachondromatosis | Enrichment | PTPN11 | 2.38 |
| 62 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.38 |
| 63 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.38 |
| 64 | Epidermolysis bullosa dystrophica, autosomal recessive | Enrichment | COL7A1 | 2.38 |
| 65 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.38 |
| 66 | Deafness, autosomal recessive 53 | Enrichment | COL11A2 | 2.38 |
| 67 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.38 |
| 68 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.38 |
| 69 | Czech dysplasia | Enrichment | COL2A1 | 2.38 |
| 70 | Caspase 8 deficiency | Enrichment | CASP8 | 2.38 |
| 71 | Nail disorder, nonsyndromic congenital, 8 | Enrichment | COL7A1 | 2.38 |
| 72 | Marshall syndrome | Enrichment | COL11A1 | 2.38 |
| 73 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.38 |
| 74 | Kniest dysplasia | Enrichment | COL2A1 | 2.38 |
| 75 | Transient bullous dermolysis of the newborn | Enrichment | COL7A1 | 2.38 |
| 76 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.38 |
| 77 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.38 |
| 78 | Epidermolysis bullosa with congenital localized absence of skin and deformity of nails | Enrichment | COL7A1 | 2.38 |
| 79 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.38 |
| 80 | Fibrochondrogenesis 1 | Enrichment | COL11A1 | 2.38 |
| 81 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.38 |
| 82 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.38 |
| 83 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.38 |
| 84 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.38 |
| 85 | Ullrich congenital muscular dystrophy 1b | Enrichment | COL6A2 | 2.38 |
| 86 | Short syndrome | Enrichment | PIK3R1 | 2.38 |
| 87 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.38 |
| 88 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.38 |
| 89 | Myosclerosis, autosomal recessive | Enrichment | COL6A2 | 2.38 |
| 90 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.38 |
| 91 | Ullrich congenital muscular dystrophy 1c | Enrichment | COL6A3 | 2.38 |
| 92 | Deafness, autosomal dominant 37 | Enrichment | COL11A1 | 2.38 |
| 93 | Deafness, autosomal dominant 13 | Enrichment | COL11A2 | 2.38 |
| 94 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.38 |
| 95 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.38 |
| 96 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.38 |
| 97 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.38 |
| 98 | Epidermolysis bullosa pruriginosa | Enrichment | COL7A1 | 2.38 |
| 99 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.38 |
| 100 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.38 |
| 101 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.38 |
| 102 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.38 |
| 103 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.38 |
| 104 | Cowden syndrome 6 | Enrichment | AKT1 | 2.38 |
| 105 | Fibrochondrogenesis 2 | Enrichment | COL11A2 | 2.38 |
| 106 | Dystonia 27 | Enrichment | COL6A3 | 2.38 |
| 107 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.38 |
| 108 | Thyroid gland disease | Enrichment | COL7A1 | 2.38 |
| 109 | Thrombocytopenia 6 | Enrichment | SRC | 2.38 |
| 110 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.38 |
| 111 | Qualitative or quantitative defects of collagen 6 | Enrichment | COL6A2 | 2.38 |
| 112 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.38 |
| 113 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.38 |
| 114 | Spastic paraplegia 84, autosomal recessive | Enrichment | PI4KA | 2.38 |
| 115 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.38 |
| 116 | Recessive dystrophic epidermolysis bullosa-generalized other | Enrichment | COL7A1 | 2.38 |
| 117 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.38 |
| 118 | Tufted angioma of skin | Enrichment | KDR | 2.38 |
| 119 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.38 |
| 120 | Bethlem myopathy 1b | Enrichment | COL6A2 | 2.38 |
| 121 | Csf1r-related disorder | Enrichment | CSF1R | 2.38 |
| 122 | Deafness, autosomal dominant 87 | Enrichment | PI4KB | 2.38 |
| 123 | Hypospadias | Enrichment | PIK3CA | 2.38 |
| 124 | Bethlem myopathy 1c | Enrichment | COL6A3 | 2.38 |
| 125 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.38 |
| 126 | Rare venous malformation | Enrichment | PIK3CA | 2.38 |
| 127 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.38 |
| 128 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.38 |
| 129 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.38 |
| 130 | Hypochondrogenesis | Enrichment | COL2A1 | 2.38 |
| 131 | Capillary leak syndrome | Enrichment | TLN1 | 2.38 |
| 132 | Pneumothorax | Enrichment | COL5A1 | 2.38 |
| 133 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.38 |
| 134 | Localized dystrophic epidermolysis bullosa, acral form | Enrichment | COL7A1 | 2.38 |
| 135 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | Enrichment | COL11A1 | 2.38 |
| 136 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.38 |
| 137 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.38 |
| 138 | Cystic lymphangioma | Enrichment | COL11A2 | 2.38 |
| 139 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.38 |
| 140 | Gastrointestinal defects and immunodeficiency syndrome 2 | Enrichment | PI4KA | 2.38 |
| 141 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.38 |
| 142 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.38 |
| 143 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.38 |
| 144 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.38 |
| 145 | Recessive dystrophic epidermolysis bullosa inversa | Enrichment | COL7A1 | 2.38 |
| 146 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.38 |
| 147 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.38 |
| 148 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.38 |
| 149 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.38 |
| 150 | Macrodactyly of toe | Enrichment | PIK3CA | 2.38 |
| 151 | Generalized dominant dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.38 |
| 152 | Pi4ka-related disorder | Enrichment | PI4KA | 2.38 |
| 153 | Malignant astrocytoma | Enrichment | PTPN11 | 2.38 |
| 154 | Scoliosis | Enrichment | COL2A1, PTPN11 | 2.35 |
| 155 | Rasopathy | Enrichment | CBL, PTPN11 | 2.28 |
| 156 | Lung cancer | Enrichment | CASP8, PIK3CA | 2.10 |
| 157 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.08 |
| 158 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.08 |
| 159 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.08 |
| 160 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.08 |
| 161 | Ovarian germ cell cancer | Enrichment | CBL | 2.08 |
| 162 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.08 |
| 163 | Loeys-dietz syndrome 2 | Enrichment | TGFBR2 | 2.08 |
| 164 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 2.08 |
| 165 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.08 |
| 166 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.08 |
| 167 | Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities | Enrichment | PI4KA | 2.08 |
| 168 | Angioma, tufted | Enrichment | KDR | 2.08 |
| 169 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.08 |
| 170 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.08 |
| 171 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.08 |
| 172 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.08 |
| 173 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.08 |
| 174 | Werner syndrome | Enrichment | PTPN11 | 2.08 |
| 175 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.08 |
| 176 | Aortic dissection | Enrichment | COL3A1 | 2.08 |
| 177 | Recessive dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.08 |
| 178 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.08 |
| 179 | Hypobetalipoproteinemia, familial, 2 | Enrichment | ANGPTL3 | 2.08 |
| 180 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.08 |
| 181 | Developmental and epileptic encephalopathy 23 | Enrichment | ANGPTL3 | 2.08 |
| 182 | Combined immunodeficiency-multiple intestinal atresia | Enrichment | PI4KA | 2.08 |
| 183 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.08 |
| 184 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.08 |
| 185 | Epidermolysis bullosa dystrophica | Enrichment | COL7A1 | 2.08 |
| 186 | Ovarian cancer | Enrichment | AKT1, CDKN1B, PIK3CA | 2.06 |
| 187 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.90 |
| 188 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.90 |
| 189 | Hematuria, benign familial, 1 | Enrichment | COL4A3 | 1.90 |
| 190 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.90 |
| 191 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.90 |
| 192 | Megalocornea | Enrichment | COL11A1 | 1.90 |
| 193 | Nail disorder, nonsyndromic congenital, 4 | Enrichment | COL7A1 | 1.90 |
| 194 | Hypophosphatasia, infantile | Enrichment | COL11A2 | 1.90 |
| 195 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.90 |
| 196 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.90 |
| 197 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.90 |
| 198 | Heparin cofactor ii deficiency | Enrichment | PI4KA | 1.90 |
| 199 | Caffey disease | Enrichment | COL1A1 | 1.90 |
| 200 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.90 |
| 201 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.90 |
| 202 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.90 |
| 203 | Loeys-dietz syndrome 1 | Enrichment | TGFBR2 | 1.90 |
| 204 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.90 |
| 205 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.90 |
| 206 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.90 |
| 207 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.90 |
| 208 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.90 |
| 209 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.90 |
| 210 | Keratoacanthoma | Enrichment | PIK3CA | 1.90 |
| 211 | Digenic alport syndrome | Enrichment | COL4A3 | 1.90 |
| 212 | Hyperpigmentation of the skin | Enrichment | COL7A1 | 1.90 |
| 213 | Nephrotic syndrome | Enrichment | COL4A3, FN1 | 1.85 |
| 214 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.83 |
| 215 | Microcephaly | Enrichment | COL7A1, IGF1R, PTPN11 | 1.83 |
| 216 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3 | 1.78 |
| 217 | Phenylketonuria | Enrichment | COL1A1 | 1.78 |
| 218 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.78 |
| 219 | Cerebrovascular disease | Enrichment | PIK3CA | 1.78 |
| 220 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.78 |
| 221 | Epidermolytic hyperkeratosis | Enrichment | COL7A1 | 1.78 |
| 222 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.78 |
| 223 | Autosomal recessive alport syndrome | Enrichment | COL4A3 | 1.78 |
| 224 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.78 |
| 225 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.78 |
| 226 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | COL11A1, COL11A2 | 1.70 |
| 227 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3 | 1.68 |
| 228 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.68 |
| 229 | Epidermolytic hyperkeratosis 1 | Enrichment | COL7A1 | 1.68 |
| 230 | Retinal detachment | Enrichment | COL2A1 | 1.68 |
| 231 | Insulin-like growth factor i | Enrichment | IGF1R | 1.68 |
| 232 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.68 |
| 233 | Lymphoma | Enrichment | PTPN11 | 1.68 |
| 234 | Autosomal dominant alport syndrome | Enrichment | COL4A3 | 1.68 |
| 235 | Myeloproliferative neoplasm | Enrichment | CBL | 1.68 |
| 236 | Epidermolysis bullosa | Enrichment | COL7A1 | 1.68 |
| 237 | Hemimegalencephaly | Enrichment | PIK3CA | 1.68 |
| 238 | Alport syndrome | Enrichment | COL4A3 | 1.68 |
| 239 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.68 |
| 240 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.68 |
| 241 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.60 |
| 242 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.60 |
| 243 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.60 |
| 244 | Hemangioma, capillary infantile | Enrichment | KDR | 1.60 |
| 245 | Inguinal hernia | Enrichment | COL5A1 | 1.60 |
| 246 | Pain disorder | Enrichment | COL5A1 | 1.60 |
| 247 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.60 |
| 248 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.60 |
| 249 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.60 |
| 250 | Esophageal cancer | Enrichment | TGFBR2 | 1.54 |
| 251 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.54 |
| 252 | Myelofibrosis | Enrichment | SRC | 1.54 |
| 253 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.54 |
| 254 | Intervertebral disc disease | Enrichment | COL11A1 | 1.54 |
| 255 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.54 |
| 256 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.54 |
| 257 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.54 |
| 258 | Gallbladder cancer | Enrichment | PIK3CA | 1.54 |
| 259 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.54 |
| 260 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.48 |
| 261 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.48 |
| 262 | Orthostatic intolerance | Enrichment | COL5A1 | 1.48 |
| 263 | Loeys-dietz syndrome | Enrichment | TGFBR2 | 1.43 |
| 264 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.43 |
| 265 | Arteriovenous malformation | Enrichment | PIK3CA | 1.43 |
| 266 | Bilateral perisylvian polymicrogyria | Enrichment | PI4KA | 1.43 |
| 267 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.43 |
| 268 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.38 |
| 269 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.38 |
| 270 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.38 |
| 271 | Pectus excavatum | Enrichment | PTPN11 | 1.34 |
| 272 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.34 |
| 273 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.34 |
| 274 | Ichthyosis | Enrichment | COL7A1 | 1.34 |
| 275 | Specific learning disability | Enrichment | PTPN11 | 1.34 |
| 276 | Epicanthus | Enrichment | PTPN11 | 1.31 |
| 277 | Cutis laxa | Enrichment | COL5A1 | 1.31 |
| 278 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.31 |
| 279 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.31 |
| 280 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.27 |
| 281 | Alzheimer's disease | Enrichment | CSF1R | 1.27 |
| 282 | Clubfoot | Enrichment | COL5A1 | 1.27 |
| 283 | Nk-cell enteropathy | Enrichment | IGF1R | 1.27 |
| 284 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.24 |
| 285 | Cataract | Enrichment | COL5A1 | 1.24 |
| 286 | Kidney disease | Enrichment | COL4A3 | 1.21 |
| 287 | Rhabdomyosarcoma | Enrichment | CBL | 1.19 |
| 288 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.16 |
| 289 | Cleft palate, isolated | Enrichment | COL11A1 | 1.16 |
| 290 | Patent foramen ovale | Enrichment | PTPN11 | 1.14 |
| 291 | Endometrial cancer | Enrichment | PIK3CA | 1.07 |
| 292 | Hepatoblastoma | Enrichment | COL7A1 | 1.07 |
| 293 | Myocardial infarction | Enrichment | ITGB3 | 1.05 |
| 294 | Skin disease | Enrichment | COL7A1 | 1.05 |
| 295 | Ear malformation | Enrichment | COL11A2 | 1.02 |
| 296 | Muscular dystrophy | Enrichment | COL6A2 | 1.02 |
| 297 | Tetralogy of fallot | Enrichment | KDR | 0.98 |
| 298 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 0.98 |
| 299 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, PTPN11 | 0.97 |
| 300 | Strabismus | Enrichment | PTPN11 | 0.97 |
| 301 | Bladder cancer | Enrichment | PIK3CA | 0.94 |
| 302 | Prostate cancer | Enrichment | PIK3CA | 0.94 |
| 303 | Severe covid-19 | Enrichment | ITGAV | 0.94 |
| 304 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.93 |
| 305 | Stargardt disease 1 | Enrichment | COL2A1 | 0.93 |
| 306 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.91 |
| 307 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 0.87 |
| 308 | Systemic lupus erythematosus | Enrichment | SPP1 | 0.82 |
| 309 | Type 2 diabetes mellitus | Enrichment | IRS1 | 0.79 |
| 310 | Nonsyndromic hearing loss | Enrichment | COL11A2 | 0.79 |
| 311 | Gastric cancer | Enrichment | PIK3CA | 0.78 |
| 312 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.78 |
| 313 | Sensorineural hearing loss | Enrichment | COL11A2 | 0.74 |
| 314 | Familial isolated dilated cardiomyopathy | Enrichment | VCL | 0.70 |
| 315 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.68 |
| 316 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.68 |
| 317 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.66 |
| 318 | Primary ovarian insufficiency | Enrichment | KDR | 0.66 |
| 319 | Autism | Enrichment | COL11A1 | 0.58 |
| 320 | Rare genetic deafness | Enrichment | COL11A2 | 0.55 |
| 321 | Dilated cardiomyopathy | Enrichment | VCL | 0.54 |
| 322 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | COL11A2 | 0.50 |
| 323 | Hereditary retinal dystrophy | Enrichment | COL11A2, COL2A1 | 0.46 |
| 324 | Fundus dystrophy | Enrichment | COL11A2, COL2A1 | 0.46 |
| 325 | Autism spectrum disorder | Enrichment | PTPN11 | 0.43 |