| 1 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 | 10.63 |
| 2 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 | 10.63 |
| 3 | Junctional epidermolysis bullosa | Enrichment | COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2 | 10.62 |
| 4 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, HRAS, PIK3CA | 7.89 |
| 5 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, PIK3CA | 7.82 |
| 6 | Colorectal cancer | Enrichment | AKT1, CDH1, ERBB2, MET, PIK3CA, PIK3R1 | 6.94 |
| 7 | Ovarian cancer | Enrichment | AKT1, CDH1, EGFR, ERBB2, MET, PIK3CA | 6.55 |
| 8 | Skin disease | Enrichment | COL17A1, ITGB4, LAMB3, LAMC2 | 6.48 |
| 9 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 6.43 |
| 10 | Lung cancer | Enrichment | EGFR, ERBB2, MET, PIK3CA | 5.80 |
| 11 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 5.39 |
| 12 | Multiple sclerosis | Enrichment | ITGB4, LAMA5, LAMB1 | 5.18 |
| 13 | Amelogenesis imperfecta, type ia | Enrichment | COL17A1, LAMB3 | 5.14 |
| 14 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | COL17A1, ITGB4 | 5.14 |
| 15 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.66 |
| 16 | Breast cancer | Enrichment | AKT1, CDH1, PIK3CA, SHC1 | 4.30 |
| 17 | Epidermolysis bullosa | Enrichment | ITGA6, LAMB3 | 4.14 |
| 18 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA | 3.97 |
| 19 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.97 |
| 20 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.97 |
| 21 | Lung squamous cell carcinoma | Enrichment | EGFR, PIK3CA | 3.97 |
| 22 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.82 |
| 23 | Gastric cancer | Enrichment | CDH1, ERBB2, PIK3CA | 3.67 |
| 24 | Hereditary breast carcinoma | Enrichment | AKT1, CDH1, PIK3CA | 3.64 |
| 25 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA | 3.59 |
| 26 | Adult hepatocellular carcinoma | Enrichment | EGF, PIK3CA | 3.59 |
| 27 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.59 |
| 28 | Amelogenesis imperfecta, type ie | Enrichment | COL17A1, LAMB3 | 3.49 |
| 29 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA | 3.49 |
| 30 | Meningioma | Enrichment | AKT1, PIK3CA | 3.33 |
| 31 | Amelogenesis imperfecta | Enrichment | COL17A1, LAMB3 | 3.26 |
| 32 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2 | 3.19 |
| 33 | Endometrial cancer | Enrichment | CDH1, PIK3CA | 2.83 |
| 34 | Hepatocellular carcinoma | Enrichment | MET, PIK3CA | 2.79 |
| 35 | Charcot-marie-tooth disease and deafness | Enrichment | PMP22 | 2.56 |
| 36 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.56 |
| 37 | Macrodactyly | Enrichment | PIK3CA | 2.56 |
| 38 | Proteus syndrome | Enrichment | AKT1 | 2.56 |
| 39 | Paget disease, extramammary | Enrichment | ERBB2 | 2.56 |
| 40 | Guillain-barre syndrome, familial | Enrichment | PMP22 | 2.56 |
| 41 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.56 |
| 42 | Neuropathy, hereditary, with liability to pressure palsies | Enrichment | PMP22 | 2.56 |
| 43 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.56 |
| 44 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.56 |
| 45 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.56 |
| 46 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.56 |
| 47 | Lissencephaly 5 | Enrichment | LAMB1 | 2.56 |
| 48 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.56 |
| 49 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.56 |
| 50 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.56 |
| 51 | Short syndrome | Enrichment | PIK3R1 | 2.56 |
| 52 | Osteofibrous dysplasia | Enrichment | MET | 2.56 |
| 53 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.56 |
| 54 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.56 |
| 55 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.56 |
| 56 | Autism 9 | Enrichment | MET | 2.56 |
| 57 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.56 |
| 58 | Cowden syndrome 6 | Enrichment | AKT1 | 2.56 |
| 59 | Nasopharyngeal carcinoma 3 | Enrichment | MST1R | 2.56 |
| 60 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.56 |
| 61 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.56 |
| 62 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.56 |
| 63 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.56 |
| 64 | Late-onset junctional epidermolysis bullosa | Enrichment | COL17A1 | 2.56 |
| 65 | Hypospadias | Enrichment | PIK3CA | 2.56 |
| 66 | Breast lobular carcinoma | Enrichment | CDH1 | 2.56 |
| 67 | Rare venous malformation | Enrichment | PIK3CA | 2.56 |
| 68 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.56 |
| 69 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.56 |
| 70 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.56 |
| 71 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.56 |
| 72 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.56 |
| 73 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.56 |
| 74 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.56 |
| 75 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.56 |
| 76 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.56 |
| 77 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.56 |
| 78 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.56 |
| 79 | Macrodactyly of toe | Enrichment | PIK3CA | 2.56 |
| 80 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.56 |
| 81 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.56 |
| 82 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 2.55 |
| 83 | Prostate cancer | Enrichment | CDH1, PIK3CA | 2.55 |
| 84 | Charcot-marie-tooth disease, demyelinating, type 1a | Enrichment | PMP22 | 2.26 |
| 85 | Amelogenesis imperfecta, type ib | Enrichment | COL17A1 | 2.26 |
| 86 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 2.26 |
| 87 | Costello syndrome | Enrichment | HRAS | 2.26 |
| 88 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.26 |
| 89 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.26 |
| 90 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 2.26 |
| 91 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.26 |
| 92 | Lissencephaly 1 | Enrichment | LAMB1 | 2.26 |
| 93 | Epithelial recurrent erosion dystrophy | Enrichment | COL17A1 | 2.26 |
| 94 | Roussy-levy hereditary areflexic dystasia | Enrichment | PMP22 | 2.26 |
| 95 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.26 |
| 96 | Pierson syndrome | Enrichment | LAMB2 | 2.26 |
| 97 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 2.26 |
| 98 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 2.26 |
| 99 | Epidermolysis bullosa, junctional 4, intermediate | Enrichment | COL17A1 | 2.26 |
| 100 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.26 |
| 101 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.26 |
| 102 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.26 |
| 103 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 2.26 |
| 104 | Childhood hepatocellular carcinoma | Enrichment | MET | 2.26 |
| 105 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.26 |
| 106 | Charcot-marie-tooth disease type 1a | Enrichment | PMP22 | 2.26 |
| 107 | Papillary renal cell carcinoma | Enrichment | MET | 2.26 |
| 108 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.26 |
| 109 | Wooly hair nevus | Enrichment | HRAS | 2.26 |
| 110 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, EGFR, MET | 2.26 |
| 111 | Charcot-marie-tooth disease | Enrichment | LAMA2, PMP22 | 2.26 |
| 112 | Nephrotic syndrome | Enrichment | LAMA5, LAMB2 | 2.22 |
| 113 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.09 |
| 114 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 2.09 |
| 115 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.09 |
| 116 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.09 |
| 117 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 2.09 |
| 118 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.09 |
| 119 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 2.09 |
| 120 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.09 |
| 121 | Charcot-marie-tooth disease type 1 | Enrichment | PMP22 | 2.09 |
| 122 | Spermatocytoma | Enrichment | HRAS | 2.09 |
| 123 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.09 |
| 124 | Renal cell carcinoma | Enrichment | MET | 2.09 |
| 125 | Keratoacanthoma | Enrichment | PIK3CA | 2.09 |
| 126 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 2.09 |
| 127 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.96 |
| 128 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.96 |
| 129 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.96 |
| 130 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.96 |
| 131 | Barrett esophagus | Enrichment | ERBB2 | 1.96 |
| 132 | Cerebrovascular disease | Enrichment | PIK3CA | 1.96 |
| 133 | Corneal dystrophy | Enrichment | COL17A1 | 1.96 |
| 134 | Epidermolytic nevus | Enrichment | HRAS | 1.96 |
| 135 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.96 |
| 136 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | PMP22 | 1.87 |
| 137 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.87 |
| 138 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.87 |
| 139 | Cholangitis, primary sclerosing | Enrichment | MST1 | 1.87 |
| 140 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.87 |
| 141 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.87 |
| 142 | Hemimegalencephaly | Enrichment | PIK3CA | 1.87 |
| 143 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.79 |
| 144 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.79 |
| 145 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.79 |
| 146 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.72 |
| 147 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.72 |
| 148 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.72 |
| 149 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.72 |
| 150 | Noonan syndrome 3 | Enrichment | HRAS | 1.72 |
| 151 | Gallbladder cancer | Enrichment | PIK3CA | 1.72 |
| 152 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.72 |
| 153 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.72 |
| 154 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.72 |
| 155 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.67 |
| 156 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS | 1.67 |
| 157 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.67 |
| 158 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.67 |
| 159 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.61 |
| 160 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.57 |
| 161 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 1.53 |
| 162 | Neural tube defects | Enrichment | ITGB1 | 1.46 |
| 163 | Cleft lip/palate | Enrichment | CDH1 | 1.43 |
| 164 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.40 |
| 165 | Lynch syndrome | Enrichment | PIK3CA | 1.40 |
| 166 | Kidney disease | Enrichment | LAMB2 | 1.40 |
| 167 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS | 1.40 |
| 168 | Creatine phosphokinase, elevated serum | Enrichment | LAMA2 | 1.37 |
| 169 | Isolated elevated serum creatine phosphokinase levels | Enrichment | LAMA2 | 1.37 |
| 170 | Rhabdomyosarcoma | Enrichment | HRAS | 1.37 |
| 171 | Gliosarcoma | Enrichment | EGFR | 1.37 |
| 172 | Giant cell glioblastoma | Enrichment | EGFR | 1.34 |
| 173 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.30 |
| 174 | Noonan syndrome 1 | Enrichment | HRAS | 1.22 |
| 175 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.16 |
| 176 | Rasopathy | Enrichment | HRAS | 1.16 |
| 177 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.12 |
| 178 | Non-immune hydrops fetalis | Enrichment | HRAS | 1.09 |
| 179 | Peripheral nervous system disease | Enrichment | PMP22 | 1.08 |
| 180 | Neuropathy | Enrichment | PMP22 | 1.08 |
| 181 | Genetic steroid-resistant nephrotic syndrome | Enrichment | LAMA5 | 1.05 |
| 182 | Hypertelorism | Enrichment | PIK3CA | 0.88 |
| 183 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.87 |
| 184 | Myeloma, multiple | Enrichment | MST1R | 0.85 |
| 185 | Dilated cardiomyopathy | Enrichment | LAMA2 | 0.71 |
| 186 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.66 |
| 187 | Hereditary retinal dystrophy | Enrichment | LAMA1 | 0.26 |
| 188 | Fundus dystrophy | Enrichment | LAMA1 | 0.26 |