| 1 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4, CD2AP, MAGI2, NPHS1, NPHS2 | 8.62 |
| 2 | Nephrotic syndrome, type 1 | Enrichment | KIRREL2, NPHS1, NPHS2 | 6.45 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 5.08 |
| 4 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.78 |
| 5 | Nephrotic syndrome | Enrichment | KIRREL2, NPHS1, NPHS2 | 4.30 |
| 6 | Focal segmental glomerulosclerosis | Enrichment | NPHS1, NPHS2 | 3.29 |
| 7 | Macrodactyly | Enrichment | PIK3CA | 2.77 |
| 8 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.77 |
| 9 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.77 |
| 10 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.77 |
| 11 | Developmental and epileptic encephalopathy 5 | Enrichment | SPTAN1 | 2.77 |
| 12 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.77 |
| 13 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.77 |
| 14 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.77 |
| 15 | Short syndrome | Enrichment | PIK3R1 | 2.77 |
| 16 | Developmental delay, impaired speech, and behavioral abnormalities | Enrichment | SPTBN1 | 2.77 |
| 17 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.77 |
| 18 | Actn3 deficiency | Enrichment | ACTN3 | 2.77 |
| 19 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.77 |
| 20 | Focal segmental glomerulosclerosis 3 | Enrichment | CD2AP | 2.77 |
| 21 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.77 |
| 22 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.77 |
| 23 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.77 |
| 24 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.77 |
| 25 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.77 |
| 26 | Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | Enrichment | SPTAN1 | 2.77 |
| 27 | Developmental delay with or without epilepsy | Enrichment | SPTAN1 | 2.77 |
| 28 | Neuronopathy, distal hereditary motor, autosomal dominant 11 | Enrichment | SPTAN1 | 2.77 |
| 29 | Hypospadias | Enrichment | PIK3CA | 2.77 |
| 30 | Cask-related intellectual disability | Enrichment | CASK | 2.77 |
| 31 | Rare venous malformation | Enrichment | PIK3CA | 2.77 |
| 32 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.77 |
| 33 | Familial nephrotic syndrome | Enrichment | NPHS1 | 2.77 |
| 34 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.77 |
| 35 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.77 |
| 36 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.77 |
| 37 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.77 |
| 38 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.77 |
| 39 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.77 |
| 40 | Macrodactyly of toe | Enrichment | PIK3CA | 2.77 |
| 41 | Intellectual developmental disorder, x-linked, syndromic, raymond type | Enrichment | SPTAN1 | 2.47 |
| 42 | Nephrotic syndrome, type 2 | Enrichment | NPHS2 | 2.47 |
| 43 | Fg syndrome 4 | Enrichment | CASK | 2.47 |
| 44 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.47 |
| 45 | Intellectual developmental disorder, autosomal dominant 4 | Enrichment | KIRREL3 | 2.47 |
| 46 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.47 |
| 47 | Nephrotic syndrome, type 15 | Enrichment | MAGI2 | 2.47 |
| 48 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.47 |
| 49 | Syndromic x-linked intellectual disability | Enrichment | CASK | 2.47 |
| 50 | Nephrotic syndrome, type 23 | Enrichment | KIRREL1 | 2.47 |
| 51 | Genetic nephrotic syndrome | Enrichment | NPHS2 | 2.47 |
| 52 | Idiopathic nephrotic syndrome | Enrichment | NPHS2 | 2.47 |
| 53 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.29 |
| 54 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | CASK | 2.29 |
| 55 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.29 |
| 56 | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | Enrichment | SPTBN1 | 2.29 |
| 57 | Short-rib thoracic dysplasia 11 with or without polydactyly | Enrichment | SPTAN1 | 2.29 |
| 58 | Nephrotic syndrome, type 24 | Enrichment | NPHS2 | 2.29 |
| 59 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.29 |
| 60 | Syndromic x-linked intellectual disability najm type | Enrichment | CASK | 2.29 |
| 61 | Cerebellar disease | Enrichment | CASK | 2.29 |
| 62 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.29 |
| 63 | Keratoacanthoma | Enrichment | PIK3CA | 2.29 |
| 64 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 2.17 |
| 65 | Cerebrovascular disease | Enrichment | PIK3CA | 2.17 |
| 66 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.17 |
| 67 | Charcot-marie-tooth hereditary neuropathy | Enrichment | SPTAN1 | 2.17 |
| 68 | Capillary malformations, congenital | Enrichment | PIK3CA | 2.07 |
| 69 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | CASK | 2.07 |
| 70 | Pervasive developmental disorder | Enrichment | SPTBN1 | 2.07 |
| 71 | Hemimegalencephaly | Enrichment | PIK3CA | 2.07 |
| 72 | Rare pervasive developmental disorder | Enrichment | SPTBN1 | 2.07 |
| 73 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1 | 2.03 |
| 74 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.99 |
| 75 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.99 |
| 76 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.99 |
| 77 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.99 |
| 78 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.99 |
| 79 | Nevus, epidermal | Enrichment | PIK3CA | 1.93 |
| 80 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.93 |
| 81 | Gallbladder cancer | Enrichment | PIK3CA | 1.93 |
| 82 | Focal epilepsy | Enrichment | SPTAN1 | 1.93 |
| 83 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.93 |
| 84 | Arteriovenous malformation | Enrichment | PIK3CA | 1.82 |
| 85 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.82 |
| 86 | Cowden syndrome | Enrichment | PIK3CA | 1.82 |
| 87 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.77 |
| 88 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1 | 1.77 |
| 89 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.77 |
| 90 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.73 |
| 91 | Meningioma | Enrichment | PIK3CA | 1.70 |
| 92 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.70 |
| 93 | Chronic kidney disease | Enrichment | NPHS2 | 1.66 |
| 94 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.66 |
| 95 | Lynch syndrome | Enrichment | PIK3CA | 1.60 |
| 96 | Kidney disease | Enrichment | NPHS1 | 1.60 |
| 97 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | CASK | 1.57 |
| 98 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2 | 1.57 |
| 99 | Isolated congenital microcephaly | Enrichment | CASK | 1.57 |
| 100 | Neuromuscular disease | Enrichment | SPTAN1 | 1.52 |
| 101 | Early infantile developmental and epileptic encephalopathy | Enrichment | CASK | 1.52 |
| 102 | Endometrial cancer | Enrichment | PIK3CA | 1.46 |
| 103 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.44 |
| 104 | Jeune thoracic dystrophy | Enrichment | SPTAN1 | 1.38 |
| 105 | Asphyxiating thoracic dystrophy | Enrichment | SPTAN1 | 1.33 |
| 106 | Bladder cancer | Enrichment | PIK3CA | 1.32 |
| 107 | Prostate cancer | Enrichment | PIK3CA | 1.32 |
| 108 | Lung cancer | Enrichment | PIK3CA | 1.28 |
| 109 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | SPTAN1 | 1.26 |
| 110 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.26 |
| 111 | Left ventricular noncompaction | Enrichment | ACTN2 | 1.24 |
| 112 | Dystonia | Enrichment | CASK | 1.24 |
| 113 | Non-syndromic x-linked intellectual disability | Enrichment | CASK | 1.23 |
| 114 | Developmental and epileptic encephalopathy | Enrichment | SPTAN1 | 1.23 |
| 115 | Benign epilepsy with centrotemporal spikes | Enrichment | SPTAN1 | 1.17 |
| 116 | Hereditary spastic paraplegia | Enrichment | SPTAN1 | 1.16 |
| 117 | Centralopathic epilepsy | Enrichment | SPTAN1 | 1.15 |
| 118 | Gastric cancer | Enrichment | PIK3CA | 1.15 |
| 119 | Hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.15 |
| 120 | West syndrome | Enrichment | SPTAN1 | 1.14 |
| 121 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.14 |
| 122 | Thrombocytopenia | Enrichment | ACTN1 | 1.11 |
| 123 | Autosomal dominant non-syndromic intellectual disability | Enrichment | KIRREL3 | 1.09 |
| 124 | Hypertelorism | Enrichment | PIK3CA | 1.07 |
| 125 | Spastic ataxia | Enrichment | SPTAN1 | 1.06 |
| 126 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2 | 1.06 |
| 127 | Myeloma, multiple | Enrichment | PIK3R2 | 1.04 |
| 128 | Breast cancer | Enrichment | PIK3CA | 0.92 |
| 129 | Dilated cardiomyopathy | Enrichment | ACTN2 | 0.90 |
| 130 | Ovarian cancer | Enrichment | PIK3CA | 0.80 |
| 131 | Congenital nervous system abnormality | Enrichment | CASK | 0.78 |
| 132 | Nervous system disease | Enrichment | CASK | 0.78 |
| 133 | Microcephaly | Enrichment | CASK | 0.72 |
| 134 | Complex neurodevelopmental disorder | Enrichment | SPTBN1 | 0.72 |