| 1 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, THBS2 | 9.80 |
| 2 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, HRAS, KRAS, NRAS, PTPN11, SOS1 | 9.79 |
| 3 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 9.50 |
| 4 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 9.50 |
| 5 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 8.80 |
| 6 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.68 |
| 7 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1 | 8.46 |
| 8 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 7.86 |
| 9 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 7.86 |
| 10 | Junctional epidermolysis bullosa | Enrichment | ITGA6, LAMA3, LAMB3, LAMC2 | 7.34 |
| 11 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 7.19 |
| 12 | Dysfibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 7.06 |
| 13 | Familial dysfibrinogenemia | Enrichment | FGA, FGB, FGG | 7.06 |
| 14 | Collagen vi-related dystrophies | Enrichment | COL6A1, COL6A2, COL6A3 | 7.06 |
| 15 | Familial hypofibrinogenemia | Enrichment | FGA, FGB, FGG | 7.06 |
| 16 | Intermediate collagen vi-related muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 7.06 |
| 17 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | LAMA3, LAMB3, LAMC2 | 6.71 |
| 18 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 6.71 |
| 19 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | LAMA3, LAMB3, LAMC2 | 6.71 |
| 20 | Afibrinogenemia, congenital | Enrichment | FGA, FGB, FGG | 6.46 |
| 21 | Bethlem muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 6.46 |
| 22 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS, PTPN11 | 6.29 |
| 23 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.22 |
| 24 | Ullrich congenital muscular dystrophy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 6.07 |
| 25 | Epidermolysis bullosa | Enrichment | COL7A1, ITGA6, LAMB3 | 6.07 |
| 26 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 5.84 |
| 27 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, COL5A1, COL5A2, FBN1 | 5.83 |
| 28 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 5.75 |
| 29 | Nephrotic syndrome | Enrichment | FN1, ITGA3, LAMA5, LAMB2 | 5.65 |
| 30 | Bethlem myopathy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 5.52 |
| 31 | Osteoporosis | Enrichment | COL1A1, COL1A2, SRC | 5.46 |
| 32 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 5.45 |
| 33 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1, FN1 | 5.33 |
| 34 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1, FN1 | 5.33 |
| 35 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL11A2, COL2A1 | 5.33 |
| 36 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL11A2, COL2A1 | 5.33 |
| 37 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.33 |
| 38 | Fibrochondrogenesis | Enrichment | COL11A1, COL11A2 | 5.33 |
| 39 | Stickler syndrome, type ii | Enrichment | COL11A1, COL1A1 | 5.33 |
| 40 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.33 |
| 41 | Colorectal cancer | Enrichment | MET, NRAS, PIK3CA, PIK3R1, PTPRJ, SRC | 4.95 |
| 42 | Connective tissue disease | Enrichment | COL11A1, COL2A1, COL5A1, FBN1 | 4.92 |
| 43 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.90 |
| 44 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.90 |
| 45 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.90 |
| 46 | Telecanthus | Enrichment | COL11A1, COL5A2 | 4.85 |
| 47 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 4.85 |
| 48 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.85 |
| 49 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 4.78 |
| 50 | Aortic dissection | Enrichment | COL3A1, FBN1 | 4.70 |
| 51 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.55 |
| 52 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.55 |
| 53 | Myopathy | Enrichment | COL6A1, COL6A2, COL6A3, FBN1 | 4.52 |
| 54 | Myopia | Enrichment | COL11A1, COL2A1, FBN1 | 4.42 |
| 55 | Mccune-albright syndrome | Enrichment | COL2A1, FBN1 | 4.23 |
| 56 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.15 |
| 57 | Keratoconus | Enrichment | COL1A1, COL5A2 | 4.15 |
| 58 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 4.01 |
| 59 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.00 |
| 60 | Skin disease | Enrichment | COL7A1, LAMB3, LAMC2 | 3.90 |
| 61 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.70 |
| 62 | Stickler syndrome | Enrichment | COL11A1, COL2A1 | 3.68 |
| 63 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.68 |
| 64 | Bladder cancer | Enrichment | HRAS, KRAS | 3.62 |
| 65 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.59 |
| 66 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 3.56 |
| 67 | Lung cancer | Enrichment | KRAS, MET | 3.53 |
| 68 | Inguinal hernia | Enrichment | COL5A1, FBN1 | 3.53 |
| 69 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.44 |
| 70 | Deafness, autosomal recessive 39 | Enrichment | HGF | 3.43 |
| 71 | Osteofibrous dysplasia | Enrichment | MET | 3.43 |
| 72 | Deafness, autosomal recessive 97 | Enrichment | MET | 3.43 |
| 73 | Autism 9 | Enrichment | MET | 3.43 |
| 74 | Arthrogryposis, distal, type 11 | Enrichment | MET | 3.43 |
| 75 | Thrombophilia due to thrombin defect | Enrichment | F13A1, FGA | 3.39 |
| 76 | Intervertebral disc disease | Enrichment | COL11A1, THBS2 | 3.39 |
| 77 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 3.38 |
| 78 | Multiple sclerosis | Enrichment | LAMA5, LAMB1 | 3.37 |
| 79 | Syndromic congenital sodium diarrhea | Enrichment | SPINT2 | 3.35 |
| 80 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.34 |
| 81 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.31 |
| 82 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 3.31 |
| 83 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 3.31 |
| 84 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1, FGG | 3.26 |
| 85 | Orthostatic intolerance | Enrichment | COL5A1, FBN1 | 3.26 |
| 86 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA | 3.16 |
| 87 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 3.16 |
| 88 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1, FBN1 | 3.15 |
| 89 | Renal agenesis, bilateral | Enrichment | ITGA8, NPNT | 3.15 |
| 90 | Heart, malformation of | Enrichment | COL11A2, COL2A1 | 3.15 |
| 91 | Childhood hepatocellular carcinoma | Enrichment | MET | 3.13 |
| 92 | Papillary renal cell carcinoma | Enrichment | MET | 3.13 |
| 93 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 3.13 |
| 94 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 3.09 |
| 95 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 3.09 |
| 96 | Oculoectodermal syndrome | Enrichment | KRAS | 3.09 |
| 97 | Noonan syndrome 4 | Enrichment | SOS1 | 3.09 |
| 98 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.09 |
| 99 | Noonan syndrome 6 | Enrichment | NRAS | 3.09 |
| 100 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.09 |
| 101 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.09 |
| 102 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.09 |
| 103 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.09 |
| 104 | Marfan syndrome | Enrichment | COL2A1, FBN1 | 3.06 |
| 105 | Renal cell carcinoma | Enrichment | MET | 2.96 |
| 106 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.93 |
| 107 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 2.93 |
| 108 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | Enrichment | SPINT2 | 2.88 |
| 109 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 2.84 |
| 110 | Nephrotic syndrome, type 17 | Enrichment | GGA3 | 2.83 |
| 111 | Breast cancer | Enrichment | KRAS, SHC1 | 2.79 |
| 112 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.79 |
| 113 | Hypobetalipoproteinemia, familial, 2 | Enrichment | DOCK7 | 2.79 |
| 114 | Developmental and epileptic encephalopathy 23 | Enrichment | DOCK7 | 2.79 |
| 115 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.79 |
| 116 | Costello syndrome | Enrichment | HRAS | 2.79 |
| 117 | Pulmonic stenosis | Enrichment | SOS1 | 2.79 |
| 118 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.79 |
| 119 | Wooly hair nevus | Enrichment | HRAS | 2.79 |
| 120 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | COL11A1, COL11A2, TNC | 2.79 |
| 121 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1, FBN1 | 2.76 |
| 122 | Cataract | Enrichment | COL18A1, COL5A1 | 2.76 |
| 123 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 2.67 |
| 124 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.66 |
| 125 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.66 |
| 126 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.66 |
| 127 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.66 |
| 128 | Deafness, autosomal recessive 53 | Enrichment | COL11A2 | 2.66 |
| 129 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.66 |
| 130 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.66 |
| 131 | Czech dysplasia | Enrichment | COL2A1 | 2.66 |
| 132 | Marshall syndrome | Enrichment | COL11A1 | 2.66 |
| 133 | Kniest dysplasia | Enrichment | COL2A1 | 2.66 |
| 134 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.66 |
| 135 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.66 |
| 136 | Fibrochondrogenesis 1 | Enrichment | COL11A1 | 2.66 |
| 137 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.66 |
| 138 | Lissencephaly 5 | Enrichment | LAMB1 | 2.66 |
| 139 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.66 |
| 140 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.66 |
| 141 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.66 |
| 142 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.66 |
| 143 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.66 |
| 144 | Deafness, autosomal dominant 37 | Enrichment | COL11A1 | 2.66 |
| 145 | Deafness, autosomal dominant 13 | Enrichment | COL11A2 | 2.66 |
| 146 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.66 |
| 147 | Cortical malformations, occipital | Enrichment | LAMC3 | 2.66 |
| 148 | Fibrochondrogenesis 2 | Enrichment | COL11A2 | 2.66 |
| 149 | Thrombocytopenia 6 | Enrichment | SRC | 2.66 |
| 150 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.66 |
| 151 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.66 |
| 152 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.66 |
| 153 | Occipital pachygyria and polymicrogyria | Enrichment | LAMC3 | 2.66 |
| 154 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.66 |
| 155 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.66 |
| 156 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.66 |
| 157 | Hypochondrogenesis | Enrichment | COL2A1 | 2.66 |
| 158 | Pneumothorax | Enrichment | COL5A1 | 2.66 |
| 159 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | Enrichment | COL11A1 | 2.66 |
| 160 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.66 |
| 161 | Cystic lymphangioma | Enrichment | COL11A2 | 2.66 |
| 162 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.66 |
| 163 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.66 |
| 164 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.66 |
| 165 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.66 |
| 166 | Nuchal bleb, familial | Enrichment | SOS1 | 2.61 |
| 167 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.61 |
| 168 | Spermatocytoma | Enrichment | HRAS | 2.61 |
| 169 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 2.59 |
| 170 | Ovarian cancer | Enrichment | KRAS, MET | 2.54 |
| 171 | Beckwith-wiedemann syndrome | Enrichment | COL6A1, COL7A1 | 2.54 |
| 172 | Arthrogryposis, distal, type 1a | Enrichment | MET | 2.53 |
| 173 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL | 2.53 |
| 174 | Fetal akinesia deformation sequence 3 | Enrichment | DOCK7 | 2.49 |
| 175 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.49 |
| 176 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.49 |
| 177 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.49 |
| 178 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.49 |
| 179 | Pilocytic astrocytoma | Enrichment | KRAS | 2.49 |
| 180 | Epidermolytic nevus | Enrichment | HRAS | 2.49 |
| 181 | Gingival fibromatosis | Enrichment | SOS1 | 2.49 |
| 182 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.48 |
| 183 | Hypertelorism | Enrichment | COL11A1, COL1A1, PIK3CA | 2.47 |
| 184 | Rhabdomyosarcoma | Enrichment | CBL, HRAS | 2.42 |
| 185 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.35 |
| 186 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.35 |
| 187 | Amelogenesis imperfecta, type ia | Enrichment | LAMB3 | 2.35 |
| 188 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.35 |
| 189 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.35 |
| 190 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.35 |
| 191 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 2.35 |
| 192 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.35 |
| 193 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.35 |
| 194 | Lissencephaly 1 | Enrichment | LAMB1 | 2.35 |
| 195 | Pierson syndrome | Enrichment | LAMB2 | 2.35 |
| 196 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.35 |
| 197 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 2.35 |
| 198 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 2.35 |
| 199 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.35 |
| 200 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.35 |
| 201 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.35 |
| 202 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 2.35 |
| 203 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.35 |
| 204 | Steel syndrome | Enrichment | COL27A1 | 2.35 |
| 205 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.35 |
| 206 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.35 |
| 207 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.35 |
| 208 | Corneal dystrophy, epithelial basement membrane | Enrichment | TGFBI | 2.35 |
| 209 | Corneal dystrophy, groenouw type i | Enrichment | TGFBI | 2.35 |
| 210 | Ectopia lentis 1, isolated, autosomal dominant | Enrichment | FBN1 | 2.35 |
| 211 | Epidermolysis bullosa dystrophica, pretibial | Enrichment | COL7A1 | 2.35 |
| 212 | Epidermolysis bullosa dystrophica, autosomal dominant | Enrichment | COL7A1 | 2.35 |
| 213 | Epidermolysis bullosa dystrophica, autosomal recessive | Enrichment | COL7A1 | 2.35 |
| 214 | Corneal dystrophy, avellino type | Enrichment | TGFBI | 2.35 |
| 215 | Nail disorder, nonsyndromic congenital, 8 | Enrichment | COL7A1 | 2.35 |
| 216 | Transient bullous dermolysis of the newborn | Enrichment | COL7A1 | 2.35 |
| 217 | Corneal dystrophy, lattice type i | Enrichment | TGFBI | 2.35 |
| 218 | Epidermolysis bullosa with congenital localized absence of skin and deformity of nails | Enrichment | COL7A1 | 2.35 |
| 219 | Weill-marchesani syndrome 2 | Enrichment | FBN1 | 2.35 |
| 220 | Immunodeficiency, common variable, 6 | Enrichment | CD81 | 2.35 |
| 221 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.35 |
| 222 | Geleophysic dysplasia 2 | Enrichment | FBN1 | 2.35 |
| 223 | Protrusio acetabuli | Enrichment | FBN1 | 2.35 |
| 224 | Basal ganglia calcification, idiopathic, 8, autosomal recessive | Enrichment | JAM2 | 2.35 |
| 225 | Corneal dystrophy, thiel-behnke type | Enrichment | TGFBI | 2.35 |
| 226 | Ullrich congenital muscular dystrophy 1b | Enrichment | COL6A2 | 2.35 |
| 227 | Myosclerosis, autosomal recessive | Enrichment | COL6A2 | 2.35 |
| 228 | Ullrich congenital muscular dystrophy 1c | Enrichment | COL6A3 | 2.35 |
| 229 | Lymphoplasmacytic lymphoma | Enrichment | FBN1 | 2.35 |
| 230 | Epithelial-stromal tgfbi dystrophy | Enrichment | TGFBI | 2.35 |
| 231 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.35 |
| 232 | Corneal dystrophy, lattice type iiia | Enrichment | TGFBI | 2.35 |
| 233 | Epidermolysis bullosa pruriginosa | Enrichment | COL7A1 | 2.35 |
| 234 | Corneal dystrophy, reis-bucklers type | Enrichment | TGFBI | 2.35 |
| 235 | Granular corneal dystrophy | Enrichment | TGFBI | 2.35 |
| 236 | Dystonia 27 | Enrichment | COL6A3 | 2.35 |
| 237 | Thyroid gland disease | Enrichment | COL7A1 | 2.35 |
| 238 | Factor xiii, a subunit, deficiency of | Enrichment | F13A1 | 2.35 |
| 239 | Qualitative or quantitative defects of collagen 6 | Enrichment | COL6A2 | 2.35 |
| 240 | Recessive dystrophic epidermolysis bullosa-generalized other | Enrichment | COL7A1 | 2.35 |
| 241 | Bethlem myopathy 1b | Enrichment | COL6A2 | 2.35 |
| 242 | Epithelial basement membrane dystrophy | Enrichment | TGFBI | 2.35 |
| 243 | Congenital fibrinogen deficiency | Enrichment | FGG | 2.35 |
| 244 | Bethlem myopathy 1c | Enrichment | COL6A3 | 2.35 |
| 245 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.35 |
| 246 | Localized dystrophic epidermolysis bullosa, acral form | Enrichment | COL7A1 | 2.35 |
| 247 | Neonatal marfan syndrome | Enrichment | FBN1 | 2.35 |
| 248 | Recessive dystrophic epidermolysis bullosa inversa | Enrichment | COL7A1 | 2.35 |
| 249 | Generalized dominant dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.35 |
| 250 | Neural tube defects | Enrichment | ITGB1 | 2.32 |
| 251 | Sensorineural hearing loss | Enrichment | COL11A2, HGF | 2.30 |
| 252 | Scoliosis | Enrichment | COL2A1, FBN1 | 2.29 |
| 253 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 2.26 |
| 254 | Pilomyxoid astrocytoma | Enrichment | KRAS | 2.25 |
| 255 | Macrodactyly | Enrichment | PIK3CA | 2.23 |
| 256 | Metachondromatosis | Enrichment | PTPN11 | 2.23 |
| 257 | Immunodeficiency 61 | Enrichment | SH3KBP1 | 2.23 |
| 258 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.23 |
| 259 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.23 |
| 260 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.23 |
| 261 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.23 |
| 262 | Short syndrome | Enrichment | PIK3R1 | 2.23 |
| 263 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.23 |
| 264 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.23 |
| 265 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.23 |
| 266 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.23 |
| 267 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.23 |
| 268 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.23 |
| 269 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.23 |
| 270 | Autosomal recessive spastic paraplegia type 59 | Enrichment | USP8 | 2.23 |
| 271 | Hypospadias | Enrichment | PIK3CA | 2.23 |
| 272 | Thrombocytopenia 10 | Enrichment | PTPRJ | 2.23 |
| 273 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.23 |
| 274 | Rare venous malformation | Enrichment | PIK3CA | 2.23 |
| 275 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.23 |
| 276 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.23 |
| 277 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.23 |
| 278 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.23 |
| 279 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.23 |
| 280 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.23 |
| 281 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.23 |
| 282 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.23 |
| 283 | Macrodactyly of toe | Enrichment | PIK3CA | 2.23 |
| 284 | Malignant astrocytoma | Enrichment | PTPN11 | 2.23 |
| 285 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 2.18 |
| 286 | Megalocornea | Enrichment | COL11A1 | 2.18 |
| 287 | Hypophosphatasia, infantile | Enrichment | COL11A2 | 2.18 |
| 288 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.18 |
| 289 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 2.18 |
| 290 | Caffey disease | Enrichment | COL1A1 | 2.18 |
| 291 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 2.18 |
| 292 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 2.18 |
| 293 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 2.18 |
| 294 | Hepatocellular carcinoma | Enrichment | MET, PIK3CA | 2.14 |
| 295 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 2.14 |
| 296 | Stargardt disease 1 | Enrichment | COL18A1, COL2A1 | 2.10 |
| 297 | Phenylketonuria | Enrichment | COL1A1 | 2.05 |
| 298 | Acromicric dysplasia | Enrichment | FBN1 | 2.05 |
| 299 | Stiff skin syndrome | Enrichment | FBN1 | 2.05 |
| 300 | Quebec platelet disorder | Enrichment | PLAU | 2.05 |
| 301 | Beaulieu-boycott-innes syndrome | Enrichment | FBN1 | 2.05 |
| 302 | Recessive dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.05 |
| 303 | Marfanoid-progeroid-lipodystrophy syndrome | Enrichment | FBN1 | 2.05 |
| 304 | Glaucoma, primary closed-angle | Enrichment | COL18A1 | 2.05 |
| 305 | Common variable immunodeficiency phenotype due to cd19/cd81 deficiency | Enrichment | CD81 | 2.05 |
| 306 | Epidermolysis bullosa dystrophica | Enrichment | COL7A1 | 2.05 |
| 307 | Factor xiii deficiency | Enrichment | F13A1 | 2.05 |
| 308 | Lens subluxation | Enrichment | FBN1 | 2.05 |
| 309 | Hereditary retinal dystrophy | Enrichment | COL11A2, COL18A1, COL2A1, ITGA4, LAMA1 | 2.01 |
| 310 | Fundus dystrophy | Enrichment | COL11A2, COL18A1, COL2A1, ITGA4, LAMA1 | 2.01 |
| 311 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.00 |
| 312 | Aortic valve disease 1 | Enrichment | SOS1 | 1.98 |
| 313 | Protein-deficiency anemia | Enrichment | NRAS | 1.98 |
| 314 | Retinal detachment | Enrichment | COL2A1 | 1.96 |
| 315 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.96 |
| 316 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.96 |
| 317 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.95 |
| 318 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.95 |
| 319 | Pituitary adenoma 4, acth-secreting | Enrichment | USP8 | 1.94 |
| 320 | Ovarian germ cell cancer | Enrichment | CBL | 1.94 |
| 321 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.94 |
| 322 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.94 |
| 323 | Werner syndrome | Enrichment | PTPN11 | 1.94 |
| 324 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.94 |
| 325 | Malignant germ cell tumor of ovary | Enrichment | CBL | 1.94 |
| 326 | Submucosal cleft palate | Enrichment | UBB | 1.94 |
| 327 | Cleft hard palate | Enrichment | UBB | 1.94 |
| 328 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.88 |
| 329 | Pain disorder | Enrichment | COL5A1 | 1.88 |
| 330 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2 | 1.88 |
| 331 | Contractural arachnodactyly, congenital | Enrichment | FBN1 | 1.87 |
| 332 | Achondroplasia | Enrichment | FBN1 | 1.87 |
| 333 | Nail disorder, nonsyndromic congenital, 4 | Enrichment | COL7A1 | 1.87 |
| 334 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | Enrichment | ITGA7 | 1.87 |
| 335 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.87 |
| 336 | Ehlers-danlos syndrome, classic-like, 3 | Enrichment | THBS2 | 1.87 |
| 337 | Weill-marchesani syndrome 1 | Enrichment | FBN1 | 1.87 |
| 338 | Isolated ectopia lentis | Enrichment | FBN1 | 1.87 |
| 339 | Geleophysic dysplasia | Enrichment | FBN1 | 1.87 |
| 340 | Hyperpigmentation of the skin | Enrichment | COL7A1 | 1.87 |
| 341 | Isolated dandy-walker malformation without hydrocephalus | Enrichment | NID1 | 1.87 |
| 342 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.82 |
| 343 | Myelofibrosis | Enrichment | SRC | 1.81 |
| 344 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.81 |
| 345 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.76 |
| 346 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.76 |
| 347 | Uvula, bifid | Enrichment | UBB | 1.76 |
| 348 | Cleft soft palate | Enrichment | UBB | 1.76 |
| 349 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.76 |
| 350 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.76 |
| 351 | Hyper ige syndrome | Enrichment | STAT3 | 1.76 |
| 352 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.76 |
| 353 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.76 |
| 354 | Keratoacanthoma | Enrichment | PIK3CA | 1.76 |
| 355 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.76 |
| 356 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.76 |
| 357 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.75 |
| 358 | Weill-marchesani syndrome | Enrichment | FBN1 | 1.75 |
| 359 | Aortic aneurysm | Enrichment | FBN1 | 1.75 |
| 360 | Corneal dystrophy | Enrichment | TGFBI | 1.75 |
| 361 | Epidermolytic hyperkeratosis | Enrichment | COL7A1 | 1.75 |
| 362 | Knobloch syndrome | Enrichment | COL18A1 | 1.75 |
| 363 | Mitral valve insufficiency | Enrichment | FBN1 | 1.75 |
| 364 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.75 |
| 365 | Pancreatic cancer | Enrichment | KRAS | 1.70 |
| 366 | Amelogenesis imperfecta, type ie | Enrichment | LAMB3 | 1.66 |
| 367 | Polycystic liver disease 1 with or without kidney cysts | Enrichment | FBN1 | 1.65 |
| 368 | Alzheimer disease 2 | Enrichment | PLAU | 1.65 |
| 369 | Epidermolytic hyperkeratosis 1 | Enrichment | COL7A1 | 1.65 |
| 370 | Amyloidosis, hereditary systemic 2 | Enrichment | FGA | 1.65 |
| 371 | Arthrogryposis, renal dysfunction, and cholestasis 1 | Enrichment | FBN1 | 1.65 |
| 372 | Knobloch syndrome 1 | Enrichment | COL18A1 | 1.65 |
| 373 | Goldberg-shprintzen syndrome | Enrichment | FBN1 | 1.65 |
| 374 | Polycystic liver disease 1 | Enrichment | FBN1 | 1.65 |
| 375 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.64 |
| 376 | Cerebrovascular disease | Enrichment | PIK3CA | 1.64 |
| 377 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.64 |
| 378 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.64 |
| 379 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 1.62 |
| 380 | Gastric cancer | Enrichment | KRAS, PIK3CA | 1.59 |
| 381 | Cutis laxa | Enrichment | COL5A1 | 1.58 |
| 382 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6 | 1.57 |
| 383 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 1.57 |
| 384 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.55 |
| 385 | Clubfoot | Enrichment | COL5A1 | 1.55 |
| 386 | Amelogenesis imperfecta | Enrichment | LAMB3 | 1.55 |
| 387 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.54 |
| 388 | Lymphoma | Enrichment | PTPN11 | 1.54 |
| 389 | Myeloproliferative neoplasm | Enrichment | CBL | 1.54 |
| 390 | Hemimegalencephaly | Enrichment | PIK3CA | 1.54 |
| 391 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.54 |
| 392 | Brugada syndrome 1 | Enrichment | FBN1 | 1.51 |
| 393 | Focal epilepsy | Enrichment | NID1 | 1.51 |
| 394 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.50 |
| 395 | Kidney disease | Enrichment | LAMB2 | 1.49 |
| 396 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.46 |
| 397 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.46 |
| 398 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.46 |
| 399 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.46 |
| 400 | Creatine phosphokinase, elevated serum | Enrichment | LAMA2 | 1.46 |
| 401 | Isolated elevated serum creatine phosphokinase levels | Enrichment | LAMA2 | 1.46 |
| 402 | Basal ganglia calcification, idiopathic, 1 | Enrichment | JAM2 | 1.45 |
| 403 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8 | 1.45 |
| 404 | Cleft palate, isolated | Enrichment | COL11A1 | 1.43 |
| 405 | Loeys-dietz syndrome | Enrichment | FBN1 | 1.40 |
| 406 | Oligoarticular juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.40 |
| 407 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.40 |
| 408 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | PTPN2 | 1.40 |
| 409 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 1.36 |
| 410 | Stroke, ischemic | Enrichment | FBN1 | 1.36 |
| 411 | Melanoma | Enrichment | FBN1 | 1.36 |
| 412 | Myeloma, multiple | Enrichment | KRAS | 1.35 |
| 413 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.34 |
| 414 | Inherited cancer-predisposing syndrome | Enrichment | MET | 1.32 |
| 415 | Pectus excavatum | Enrichment | FBN1 | 1.32 |
| 416 | Ichthyosis | Enrichment | COL7A1 | 1.32 |
| 417 | Dilated cardiomyopathy | Enrichment | FBN1, LAMA2 | 1.30 |
| 418 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.29 |
| 419 | Primary hyperaldosteronism | Enrichment | USP8 | 1.29 |
| 420 | Cowden syndrome | Enrichment | PIK3CA | 1.29 |
| 421 | Ear malformation | Enrichment | COL11A2 | 1.29 |
| 422 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.25 |
| 423 | Diaphragmatic hernia, congenital | Enrichment | FBN1 | 1.24 |
| 424 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.21 |
| 425 | Specific learning disability | Enrichment | PTPN11 | 1.21 |
| 426 | Congenital myopathy 4a, autosomal dominant | Enrichment | ITGA7 | 1.18 |
| 427 | Hydrocephalus | Enrichment | NID1 | 1.18 |
| 428 | Epicanthus | Enrichment | PTPN11 | 1.17 |
| 429 | Meningioma | Enrichment | PIK3CA | 1.17 |
| 430 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.17 |
| 431 | Perrault syndrome 1 | Enrichment | FBN1 | 1.16 |
| 432 | Genetic steroid-resistant nephrotic syndrome | Enrichment | LAMA5 | 1.14 |
| 433 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.14 |
| 434 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.13 |
| 435 | Charcot-marie-tooth disease | Enrichment | LAMA2 | 1.06 |
| 436 | Nonsyndromic hearing loss | Enrichment | COL11A2 | 1.05 |
| 437 | Hepatoblastoma | Enrichment | COL7A1 | 1.04 |
| 438 | Myocardial infarction | Enrichment | F13A1 | 1.02 |
| 439 | Patent foramen ovale | Enrichment | PTPN11 | 1.00 |
| 440 | Muscular dystrophy | Enrichment | COL6A2 | 0.99 |
| 441 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 0.98 |
| 442 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.95 |
| 443 | Endometrial cancer | Enrichment | PIK3CA | 0.94 |
| 444 | Severe covid-19 | Enrichment | ITGAV | 0.91 |
| 445 | Strabismus | Enrichment | PTPN11 | 0.84 |
| 446 | Autism | Enrichment | COL11A1 | 0.83 |
| 447 | Prostate cancer | Enrichment | PIK3CA | 0.81 |
| 448 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.79 |
| 449 | Rare genetic deafness | Enrichment | COL11A2 | 0.79 |
| 450 | Systemic lupus erythematosus | Enrichment | SPP1 | 0.79 |
| 451 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 0.66 |
| 452 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.65 |
| 453 | Primary ovarian insufficiency | Enrichment | THBS1 | 0.63 |
| 454 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.58 |
| 455 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.55 |
| 456 | Microcephaly | Enrichment | COL7A1 | 0.37 |
| 457 | Autism spectrum disorder | Enrichment | PTPN11 | 0.33 |
| 458 | Retinitis pigmentosa | Enrichment | COL18A1 | 0.21 |