| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, RAF1 | 5.27 |
| 2 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, RAF1 | 4.69 |
| 3 | Rasopathy | Enrichment | HRAS, MAP2K1, RAF1 | 4.52 |
| 4 | Waardenburg syndrome, type 4a | Enrichment | EDN3, EDNRB | 4.09 |
| 5 | Myelofibrosis | Enrichment | JAK2, SRC | 3.95 |
| 6 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 3.95 |
| 7 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.82 |
| 8 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.72 |
| 9 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.62 |
| 10 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1 | 3.53 |
| 11 | Osteoporosis | Enrichment | COL1A2, SRC | 3.32 |
| 12 | Ehlers-danlos syndrome | Enrichment | COL1A2, COL3A1 | 3.05 |
| 13 | Hirschsprung disease 1 | Enrichment | EDN3, EDNRB | 2.68 |
| 14 | Proteus syndrome | Enrichment | AKT1 | 2.63 |
| 15 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.63 |
| 16 | Noonan syndrome 5 | Enrichment | RAF1 | 2.63 |
| 17 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.63 |
| 18 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.63 |
| 19 | Focal segmental glomerulosclerosis 2 | Enrichment | TRPC6 | 2.63 |
| 20 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.63 |
| 21 | Mandibulofacial dysostosis with alopecia | Enrichment | EDNRA | 2.63 |
| 22 | Lichtenstein-knorr syndrome | Enrichment | SLC9A1 | 2.63 |
| 23 | Hirschsprung disease 4 | Enrichment | EDN3 | 2.63 |
| 24 | Waardenburg syndrome, type 4b | Enrichment | EDN3 | 2.63 |
| 25 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.63 |
| 26 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.63 |
| 27 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.63 |
| 28 | Question mark ears, isolated | Enrichment | EDN1 | 2.63 |
| 29 | Melorheostosis | Enrichment | MAP2K1 | 2.63 |
| 30 | Leopard syndrome 2 | Enrichment | RAF1 | 2.63 |
| 31 | Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder | Enrichment | PLA2G4A | 2.63 |
| 32 | Cowden syndrome 6 | Enrichment | AKT1 | 2.63 |
| 33 | Thrombocytopenia 6 | Enrichment | SRC | 2.63 |
| 34 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets | Enrichment | PLA2G4A | 2.63 |
| 35 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.63 |
| 36 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.63 |
| 37 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.63 |
| 38 | Trigonitis | Enrichment | RAF1 | 2.63 |
| 39 | Nocarh syndrome | Enrichment | CDC42 | 2.63 |
| 40 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.63 |
| 41 | Cryptogenic multifocal ulcerous stenosing enteritis | Enrichment | PLA2G4A | 2.63 |
| 42 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.63 |
| 43 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.63 |
| 44 | Cystic fibrosis | Enrichment | EDNRA, SLC9A3 | 2.59 |
| 45 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.33 |
| 46 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.33 |
| 47 | Aganglionosis, total intestinal | Enrichment | EDNRB | 2.33 |
| 48 | Costello syndrome | Enrichment | HRAS | 2.33 |
| 49 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.33 |
| 50 | Abcd syndrome | Enrichment | EDNRB | 2.33 |
| 51 | Thrombocythemia 3 | Enrichment | JAK2 | 2.33 |
| 52 | Diarrhea 8, secretory sodium, congenital | Enrichment | SLC9A3 | 2.33 |
| 53 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.33 |
| 54 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 2.33 |
| 55 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.33 |
| 56 | Aortic dissection | Enrichment | COL3A1 | 2.33 |
| 57 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 2.33 |
| 58 | Immune system disease | Enrichment | CDC42 | 2.33 |
| 59 | Polycythemia | Enrichment | JAK2 | 2.33 |
| 60 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 2.33 |
| 61 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.33 |
| 62 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.33 |
| 63 | Wooly hair nevus | Enrichment | HRAS | 2.33 |
| 64 | Polycythemia vera | Enrichment | JAK2 | 2.15 |
| 65 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | Enrichment | SLC9A3 | 2.15 |
| 66 | Hirschsprung disease 2 | Enrichment | EDNRB | 2.15 |
| 67 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.15 |
| 68 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.15 |
| 69 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 2.15 |
| 70 | Spermatocytoma | Enrichment | HRAS | 2.15 |
| 71 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 2.15 |
| 72 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 2.03 |
| 73 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.03 |
| 74 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.03 |
| 75 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.03 |
| 76 | Budd-chiari syndrome | Enrichment | JAK2 | 2.03 |
| 77 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 2.03 |
| 78 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.03 |
| 79 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.03 |
| 80 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 2.03 |
| 81 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 2.03 |
| 82 | Epidermolytic nevus | Enrichment | HRAS | 2.03 |
| 83 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 2.03 |
| 84 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.93 |
| 85 | Histiocytoid hemangioma | Enrichment | FOS | 1.93 |
| 86 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.93 |
| 87 | Breast cancer | Enrichment | AKT1, JUN | 1.87 |
| 88 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.85 |
| 89 | Melanoma, uveal | Enrichment | CYSLTR2 | 1.85 |
| 90 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.85 |
| 91 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.85 |
| 92 | Breast adenocarcinoma | Enrichment | AKT1 | 1.85 |
| 93 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.85 |
| 94 | Waardenburg syndrome | Enrichment | EDNRB | 1.85 |
| 95 | Nevus, epidermal | Enrichment | HRAS | 1.79 |
| 96 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.79 |
| 97 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.79 |
| 98 | Waardenburg syndrome, type 2e | Enrichment | EDNRB | 1.79 |
| 99 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.79 |
| 100 | Essential thrombocythemia | Enrichment | JAK2 | 1.79 |
| 101 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.79 |
| 102 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.79 |
| 103 | Colorectal cancer | Enrichment | AKT1, SRC | 1.75 |
| 104 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.73 |
| 105 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.68 |
| 106 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.68 |
| 107 | Congenital central hypoventilation syndrome | Enrichment | EDN3 | 1.68 |
| 108 | Cowden syndrome | Enrichment | AKT1 | 1.68 |
| 109 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.68 |
| 110 | Primary bone dysplasia | Enrichment | COL1A2 | 1.63 |
| 111 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.59 |
| 112 | Meningioma | Enrichment | AKT1 | 1.55 |
| 113 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.55 |
| 114 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.52 |
| 115 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.49 |
| 116 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 1.46 |
| 117 | Rhabdomyosarcoma | Enrichment | HRAS | 1.43 |
| 118 | Focal segmental glomerulosclerosis | Enrichment | TRPC6 | 1.34 |
| 119 | Brittle bone disorder | Enrichment | COL1A2 | 1.28 |
| 120 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.26 |
| 121 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.22 |
| 122 | Bladder cancer | Enrichment | HRAS | 1.18 |
| 123 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.18 |
| 124 | Non-immune hydrops fetalis | Enrichment | HRAS | 1.15 |
| 125 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.12 |
| 126 | Genetic steroid-resistant nephrotic syndrome | Enrichment | TRPC6 | 1.11 |
| 127 | Left ventricular noncompaction | Enrichment | RAF1 | 1.10 |
| 128 | Leukemia, acute myeloid | Enrichment | JAK2 | 1.04 |
| 129 | Nephrotic syndrome | Enrichment | TRPC6 | 1.01 |
| 130 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL3A1 | 1.01 |
| 131 | Hereditary breast carcinoma | Enrichment | AKT1 | 1.01 |
| 132 | Sensorineural hearing loss | Enrichment | EDN3 | 0.97 |
| 133 | Thrombocytopenia | Enrichment | SRC | 0.97 |
| 134 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.93 |
| 135 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1 | 0.91 |
| 136 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.88 |
| 137 | Deafness, autosomal recessive | Enrichment | EDNRB | 0.86 |
| 138 | Autosomal recessive nonsyndromic deafness | Enrichment | EDNRB | 0.85 |
| 139 | Rare genetic deafness | Enrichment | EDNRB | 0.77 |
| 140 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.76 |
| 141 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | EDNRB | 0.72 |
| 142 | Ovarian cancer | Enrichment | AKT1 | 0.67 |
| 143 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.64 |