| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, PTPN11, SOS1 | 9.96 |
| 2 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 9.22 |
| 3 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, PTPN11, SOS1 | 9.22 |
| 4 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, PTPN11, SOS1 | 8.99 |
| 5 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, PTPN11, SOS1 | 8.71 |
| 6 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 8.26 |
| 7 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.45 |
| 8 | Stickler syndrome | Enrichment | COL2A1, COL9A1, COL9A2, COL9A3 | 7.21 |
| 9 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | Enrichment | COL9A1, COL9A2, COL9A3 | 7.13 |
| 10 | Collagen vi-related dystrophies | Enrichment | COL6A1, COL6A2, COL6A3 | 7.13 |
| 11 | Intermediate collagen vi-related muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 7.13 |
| 12 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.13 |
| 13 | Autosomal recessive stickler syndrome | Enrichment | COL9A1, COL9A2, COL9A3 | 6.53 |
| 14 | Bethlem muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 6.53 |
| 15 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA, RASA1 | 6.51 |
| 16 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA, RASA1 | 6.14 |
| 17 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 6.13 |
| 18 | Ullrich congenital muscular dystrophy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 6.13 |
| 19 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.13 |
| 20 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.13 |
| 21 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA, RASA1 | 5.98 |
| 22 | Ehlers-danlos syndrome | Enrichment | COL3A1, COL5A1, COL5A2, THBS2 | 5.95 |
| 23 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS, PTPN11 | 5.72 |
| 24 | Bethlem myopathy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 5.59 |
| 25 | Intervertebral disc disease | Enrichment | COL9A2, COL9A3, THBS2 | 5.59 |
| 26 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.36 |
| 27 | Connective tissue disease | Enrichment | COL2A1, COL5A1, COL9A1, COL9A3 | 5.00 |
| 28 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.88 |
| 29 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.88 |
| 30 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.58 |
| 31 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.58 |
| 32 | Bladder cancer | Enrichment | HRAS, KRAS, PIK3CA | 4.51 |
| 33 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.51 |
| 34 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5 | 4.49 |
| 35 | Colorectal cancer | Enrichment | NRAS, PIK3CA, PIK3R1, SRC | 4.48 |
| 36 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS, PTPN11 | 4.42 |
| 37 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 4.36 |
| 38 | Primary hypereosinophilic syndrome | Enrichment | PDGFRA, PDGFRB | 4.36 |
| 39 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 4.27 |
| 40 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 4.27 |
| 41 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 4.18 |
| 42 | Breast adenocarcinoma | Enrichment | KRAS, PIK3CA | 4.18 |
| 43 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 4.18 |
| 44 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 4.04 |
| 45 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 4.04 |
| 46 | Gallbladder cancer | Enrichment | KRAS, PIK3CA | 4.04 |
| 47 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 4.04 |
| 48 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 3.97 |
| 49 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 3.97 |
| 50 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 3.97 |
| 51 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 3.91 |
| 52 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.91 |
| 53 | Retinal detachment | Enrichment | COL2A1, COL9A3 | 3.75 |
| 54 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 3.75 |
| 55 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL5A1, COL5A2 | 3.57 |
| 56 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.57 |
| 57 | Keratoconus | Enrichment | COL4A1, COL5A2 | 3.57 |
| 58 | Classic ehlers-danlos syndrome | Enrichment | COL5A1, COL5A2 | 3.57 |
| 59 | Meningioma | Enrichment | PDGFB, PIK3CA | 3.54 |
| 60 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.54 |
| 61 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.47 |
| 62 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 3.34 |
| 63 | Cerebral palsy | Enrichment | COL4A1, COL4A2, PDGFRB | 3.22 |
| 64 | Myopathy | Enrichment | COL6A1, COL6A2, COL6A3 | 3.18 |
| 65 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 3.09 |
| 66 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL3A1, COL5A1, COL5A2 | 3.06 |
| 67 | Ovarian cancer | Enrichment | KRAS, PDGFRA, PIK3CA | 2.90 |
| 68 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 2.87 |
| 69 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.86 |
| 70 | Myopia | Enrichment | COL2A1, COL4A4 | 2.74 |
| 71 | Hypertension | Enrichment | COL4A4, COL4A5 | 2.68 |
| 72 | Lung cancer | Enrichment | KRAS, PIK3CA | 2.68 |
| 73 | Macrodactyly | Enrichment | PIK3CA | 2.67 |
| 74 | Metachondromatosis | Enrichment | PTPN11 | 2.67 |
| 75 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.67 |
| 76 | Oculoectodermal syndrome | Enrichment | KRAS | 2.67 |
| 77 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.67 |
| 78 | Noonan syndrome 4 | Enrichment | SOS1 | 2.67 |
| 79 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.67 |
| 80 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.67 |
| 81 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.67 |
| 82 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.67 |
| 83 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.67 |
| 84 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.67 |
| 85 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.67 |
| 86 | Noonan syndrome 6 | Enrichment | NRAS | 2.67 |
| 87 | Gist-plus syndrome | Enrichment | PDGFRA | 2.67 |
| 88 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.67 |
| 89 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.67 |
| 90 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.67 |
| 91 | Short syndrome | Enrichment | PIK3R1 | 2.67 |
| 92 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.67 |
| 93 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.67 |
| 94 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.67 |
| 95 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.67 |
| 96 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.67 |
| 97 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.67 |
| 98 | Immunodeficiency 31a | Enrichment | STAT1 | 2.67 |
| 99 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.67 |
| 100 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.67 |
| 101 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.67 |
| 102 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.67 |
| 103 | Immunodeficiency 31b | Enrichment | STAT1 | 2.67 |
| 104 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.67 |
| 105 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.67 |
| 106 | Thrombocytopenia 6 | Enrichment | SRC | 2.67 |
| 107 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.67 |
| 108 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.67 |
| 109 | Hypospadias | Enrichment | PIK3CA | 2.67 |
| 110 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.67 |
| 111 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.67 |
| 112 | Rare venous malformation | Enrichment | PIK3CA | 2.67 |
| 113 | Gorham's disease | Enrichment | RASA1 | 2.67 |
| 114 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.67 |
| 115 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.67 |
| 116 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.67 |
| 117 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.67 |
| 118 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.67 |
| 119 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.67 |
| 120 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.67 |
| 121 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.67 |
| 122 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.67 |
| 123 | Macrodactyly of toe | Enrichment | PIK3CA | 2.67 |
| 124 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.67 |
| 125 | Malignant astrocytoma | Enrichment | PTPN11 | 2.67 |
| 126 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 2.49 |
| 127 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 2.49 |
| 128 | Gastric cancer | Enrichment | KRAS, PIK3CA | 2.42 |
| 129 | Hereditary breast carcinoma | Enrichment | KRAS, PIK3CA | 2.40 |
| 130 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.37 |
| 131 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.37 |
| 132 | Costello syndrome | Enrichment | HRAS | 2.37 |
| 133 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 2.37 |
| 134 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.37 |
| 135 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.37 |
| 136 | Pulmonic stenosis | Enrichment | SOS1 | 2.37 |
| 137 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.37 |
| 138 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.37 |
| 139 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.37 |
| 140 | Immunodeficiency 31c | Enrichment | STAT1 | 2.37 |
| 141 | Werner syndrome | Enrichment | PTPN11 | 2.37 |
| 142 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.37 |
| 143 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.37 |
| 144 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 2.37 |
| 145 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 2.37 |
| 146 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.37 |
| 147 | Wooly hair nevus | Enrichment | HRAS | 2.37 |
| 148 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.37 |
| 149 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.37 |
| 150 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.37 |
| 151 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.37 |
| 152 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.37 |
| 153 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.37 |
| 154 | Czech dysplasia | Enrichment | COL2A1 | 2.37 |
| 155 | Kniest dysplasia | Enrichment | COL2A1 | 2.37 |
| 156 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.37 |
| 157 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.37 |
| 158 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.37 |
| 159 | Epiphyseal dysplasia, multiple, 6 | Enrichment | COL9A1 | 2.37 |
| 160 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.37 |
| 161 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.37 |
| 162 | Epiphyseal dysplasia, multiple, 2 | Enrichment | COL9A2 | 2.37 |
| 163 | Ullrich congenital muscular dystrophy 1b | Enrichment | COL6A2 | 2.37 |
| 164 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.37 |
| 165 | Myosclerosis, autosomal recessive | Enrichment | COL6A2 | 2.37 |
| 166 | Porencephaly | Enrichment | COL4A1 | 2.37 |
| 167 | Ullrich congenital muscular dystrophy 1c | Enrichment | COL6A3 | 2.37 |
| 168 | Epiphyseal dysplasia, multiple, 3 | Enrichment | COL9A3 | 2.37 |
| 169 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.37 |
| 170 | Stickler syndrome, type iv | Enrichment | COL9A1 | 2.37 |
| 171 | Dystonia 27 | Enrichment | COL6A3 | 2.37 |
| 172 | Stickler syndrome, type v | Enrichment | COL9A2 | 2.37 |
| 173 | Qualitative or quantitative defects of collagen 6 | Enrichment | COL6A2 | 2.37 |
| 174 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.37 |
| 175 | Bethlem myopathy 1b | Enrichment | COL6A2 | 2.37 |
| 176 | Col4a1-related disorders | Enrichment | COL4A1 | 2.37 |
| 177 | Bethlem myopathy 1c | Enrichment | COL6A3 | 2.37 |
| 178 | Retinal lattice degeneration | Enrichment | COL9A3 | 2.37 |
| 179 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.37 |
| 180 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.37 |
| 181 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.37 |
| 182 | Hypochondrogenesis | Enrichment | COL2A1 | 2.37 |
| 183 | X-linked alport syndrome | Enrichment | COL4A5 | 2.37 |
| 184 | Pneumothorax | Enrichment | COL5A1 | 2.37 |
| 185 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.37 |
| 186 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.37 |
| 187 | Lethal hydranencephaly-diaphragmatic hernia syndrome | Enrichment | PLAT | 2.37 |
| 188 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.37 |
| 189 | Scoliosis | Enrichment | COL2A1, PTPN11 | 2.33 |
| 190 | Thrombocytopenia | Enrichment | PTPN11, SRC | 2.33 |
| 191 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, KRAS | 2.21 |
| 192 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 2.20 |
| 193 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.19 |
| 194 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.19 |
| 195 | Nuchal bleb, familial | Enrichment | SOS1 | 2.19 |
| 196 | Langerhans cell histiocytosis | Enrichment | NRAS | 2.19 |
| 197 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.19 |
| 198 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.19 |
| 199 | Hyper ige syndrome | Enrichment | STAT3 | 2.19 |
| 200 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.19 |
| 201 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.19 |
| 202 | Spermatocytoma | Enrichment | HRAS | 2.19 |
| 203 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.19 |
| 204 | Keratoacanthoma | Enrichment | PIK3CA | 2.19 |
| 205 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.07 |
| 206 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.07 |
| 207 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL | 2.07 |
| 208 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.07 |
| 209 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.07 |
| 210 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 2.07 |
| 211 | Cerebrovascular disease | Enrichment | PIK3CA | 2.07 |
| 212 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.07 |
| 213 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 2.07 |
| 214 | Pilocytic astrocytoma | Enrichment | KRAS | 2.07 |
| 215 | Epidermolytic nevus | Enrichment | HRAS | 2.07 |
| 216 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.07 |
| 217 | Gingival fibromatosis | Enrichment | SOS1 | 2.07 |
| 218 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.07 |
| 219 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.07 |
| 220 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1 | 2.07 |
| 221 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1 | 2.07 |
| 222 | Plasminogen deficiency, type i | Enrichment | PLG | 2.07 |
| 223 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 2.07 |
| 224 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.07 |
| 225 | Specific language impairment 5 | Enrichment | COL4A4 | 2.07 |
| 226 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 2.07 |
| 227 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.07 |
| 228 | Stickler syndrome, type vi | Enrichment | COL9A3 | 2.07 |
| 229 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.07 |
| 230 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.07 |
| 231 | Aortic dissection | Enrichment | COL3A1 | 2.07 |
| 232 | Glomerulonephritis | Enrichment | COL4A4 | 2.07 |
| 233 | Hereditary angioedema | Enrichment | PLG | 2.07 |
| 234 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.07 |
| 235 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5 | 2.07 |
| 236 | Lymphoma | Enrichment | PTPN11 | 1.97 |
| 237 | Hemimegalencephaly | Enrichment | PIK3CA | 1.97 |
| 238 | Breast cancer | Enrichment | KRAS, PIK3CA | 1.95 |
| 239 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.89 |
| 240 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.89 |
| 241 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.89 |
| 242 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.89 |
| 243 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.89 |
| 244 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.89 |
| 245 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.89 |
| 246 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.89 |
| 247 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.89 |
| 248 | Angioedema, hereditary, 1 | Enrichment | PLG | 1.89 |
| 249 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.89 |
| 250 | Telecanthus | Enrichment | COL5A2 | 1.89 |
| 251 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.89 |
| 252 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.89 |
| 253 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.89 |
| 254 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.89 |
| 255 | Ehlers-danlos syndrome, classic-like, 3 | Enrichment | THBS2 | 1.89 |
| 256 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.89 |
| 257 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.89 |
| 258 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.89 |
| 259 | Myelofibrosis | Enrichment | SRC | 1.83 |
| 260 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.83 |
| 261 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.83 |
| 262 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.83 |
| 263 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.83 |
| 264 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.77 |
| 265 | Schizencephaly | Enrichment | COL4A1 | 1.77 |
| 266 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.77 |
| 267 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.72 |
| 268 | Cowden syndrome | Enrichment | PIK3CA | 1.72 |
| 269 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.67 |
| 270 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.67 |
| 271 | Pectus excavatum | Enrichment | PTPN11 | 1.63 |
| 272 | Meningioma, familial | Enrichment | PDGFB | 1.63 |
| 273 | Specific learning disability | Enrichment | PTPN11 | 1.63 |
| 274 | Epicanthus | Enrichment | PTPN11 | 1.60 |
| 275 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.60 |
| 276 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.60 |
| 277 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.60 |
| 278 | Inguinal hernia | Enrichment | COL5A1 | 1.60 |
| 279 | Pain disorder | Enrichment | COL5A1 | 1.60 |
| 280 | Aortic valve disease 1 | Enrichment | SOS1 | 1.56 |
| 281 | Protein-deficiency anemia | Enrichment | NRAS | 1.56 |
| 282 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.56 |
| 283 | Osteoporosis | Enrichment | SRC | 1.53 |
| 284 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.53 |
| 285 | Cleft lip/palate | Enrichment | PDGFRA | 1.53 |
| 286 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.53 |
| 287 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.53 |
| 288 | Hydrocephalus | Enrichment | PDGFRB | 1.50 |
| 289 | Inherited cancer-predisposing syndrome | Enrichment | PDGFRA, PTPN11 | 1.49 |
| 290 | Rhabdomyosarcoma | Enrichment | HRAS | 1.47 |
| 291 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.47 |
| 292 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.47 |
| 293 | Orthostatic intolerance | Enrichment | COL5A1 | 1.47 |
| 294 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.45 |
| 295 | Patent foramen ovale | Enrichment | PTPN11 | 1.42 |
| 296 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.42 |
| 297 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.40 |
| 298 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 1.40 |
| 299 | Marfan syndrome | Enrichment | COL2A1 | 1.38 |
| 300 | Peters-plus syndrome | Enrichment | COL4A1 | 1.38 |
| 301 | Endometrial cancer | Enrichment | PIK3CA | 1.36 |
| 302 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.34 |
| 303 | Cutis laxa | Enrichment | COL5A1 | 1.30 |
| 304 | Pancreatic cancer | Enrichment | KRAS | 1.28 |
| 305 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.27 |
| 306 | Clubfoot | Enrichment | COL5A1 | 1.27 |
| 307 | Strabismus | Enrichment | PTPN11 | 1.25 |
| 308 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.23 |
| 309 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.23 |
| 310 | Cataract | Enrichment | COL5A1 | 1.23 |
| 311 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.23 |
| 312 | Prostate cancer | Enrichment | PIK3CA | 1.22 |
| 313 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.21 |
| 314 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.21 |
| 315 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.21 |
| 316 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.21 |
| 317 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.21 |
| 318 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.21 |
| 319 | Beckwith-wiedemann syndrome | Enrichment | COL6A1 | 1.13 |
| 320 | Heart, malformation of | Enrichment | COL2A1 | 1.13 |
| 321 | Polycystic kidney disease | Enrichment | COL4A4 | 1.13 |
| 322 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 1.06 |
| 323 | Microcephaly | Enrichment | COL4A1, PTPN11 | 1.01 |
| 324 | Muscular dystrophy | Enrichment | COL6A2 | 1.01 |
| 325 | Hypertelorism | Enrichment | PIK3CA | 0.98 |
| 326 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.95 |
| 327 | Stargardt disease 1 | Enrichment | COL2A1 | 0.92 |
| 328 | Cystic fibrosis | Enrichment | PLG | 0.89 |
| 329 | Cakut | Enrichment | COL4A1 | 0.87 |
| 330 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 0.87 |
| 331 | Systemic lupus erythematosus | Enrichment | SPP1 | 0.81 |
| 332 | Sensorineural hearing loss | Enrichment | COL9A1 | 0.73 |
| 333 | Autism spectrum disorder | Enrichment | PTPN11 | 0.68 |
| 334 | Primary ovarian insufficiency | Enrichment | THBS1 | 0.65 |
| 335 | Rare genetic deafness | Enrichment | COL4A5 | 0.54 |
| 336 | Hereditary retinal dystrophy | Enrichment | COL2A1, COL9A1 | 0.45 |
| 337 | Fundus dystrophy | Enrichment | COL2A1, COL9A1 | 0.45 |