| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, RAF1 | 3.23 |
| 2 | Alzheimer disease 2 | Enrichment | NOS3 | 3.13 |
| 3 | Pre-eclampsia | Enrichment | NOS3 | 3.13 |
| 4 | Hypertension, essential | Enrichment | ECE1, NOS3 | 3.12 |
| 5 | Mitochondrial myopathy, infantile, transient | Enrichment | MT-CO2 | 2.88 |
| 6 | Noonan syndrome 1 | Enrichment | MAP2K1, RAF1 | 2.85 |
| 7 | Stroke, ischemic | Enrichment | NOS3 | 2.83 |
| 8 | Familial colorectal cancer | Enrichment | MT-CO2 | 2.83 |
| 9 | Mitochondrial myopathy with reversible cytochrome c oxidase deficiency | Enrichment | MT-CO2 | 2.83 |
| 10 | Rasopathy | Enrichment | MAP2K1, RAF1 | 2.75 |
| 11 | Cox deficiency, benign infantile mitochondrial myopathy | Enrichment | MT-CO2 | 2.69 |
| 12 | Hirschsprung disease 1 | Enrichment | ECE1, EDNRB | 2.65 |
| 13 | Noonan syndrome 5 | Enrichment | RAF1 | 2.61 |
| 14 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.61 |
| 15 | Resting heart rate, variation in | Enrichment | ADRB1 | 2.61 |
| 16 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.61 |
| 17 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.61 |
| 18 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.61 |
| 19 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.61 |
| 20 | Mandibulofacial dysostosis with alopecia | Enrichment | EDNRA | 2.61 |
| 21 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.61 |
| 22 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.61 |
| 23 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.61 |
| 24 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.61 |
| 25 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.61 |
| 26 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.61 |
| 27 | Question mark ears, isolated | Enrichment | EDN1 | 2.61 |
| 28 | Melorheostosis | Enrichment | MAP2K1 | 2.61 |
| 29 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | Enrichment | ECE1 | 2.61 |
| 30 | Leopard syndrome 2 | Enrichment | RAF1 | 2.61 |
| 31 | Disorders of gnas inactivation | Enrichment | GNAS | 2.61 |
| 32 | Short sleep, familial natural, 2 | Enrichment | ADRB1 | 2.61 |
| 33 | Congenital myopathy 14 | Enrichment | MYL1 | 2.61 |
| 34 | Trigonitis | Enrichment | RAF1 | 2.61 |
| 35 | Rhabdomyolysis 2 | Enrichment | ATP2A2 | 2.61 |
| 36 | Idiopathic hypercalciuria | Enrichment | ADCY10 | 2.61 |
| 37 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.61 |
| 38 | Mazabraud syndrome | Enrichment | GNAS | 2.61 |
| 39 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 2.60 |
| 40 | Mitochondrial complex iv deficiency, nuclear type 1 | Enrichment | MT-CO2 | 2.49 |
| 41 | Tetralogy of fallot | Enrichment | MT-CO2 | 2.42 |
| 42 | Mitochondrial complex v deficiency, mitochondrial type 1 | Enrichment | MT-CO2 | 2.42 |
| 43 | Neuropathy, ataxia, and retinitis pigmentosa | Enrichment | MT-CO2 | 2.42 |
| 44 | Striatonigral degeneration, infantile, mitochondrial | Enrichment | MT-CO2 | 2.42 |
| 45 | Camptodactyly of fingers | Enrichment | MT-CO2 | 2.42 |
| 46 | Acrokeratosis verruciformis | Enrichment | ATP2A2 | 2.31 |
| 47 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.31 |
| 48 | Hypercalciuria, absorptive, 2 | Enrichment | ADCY10 | 2.31 |
| 49 | Aganglionosis, total intestinal | Enrichment | EDNRB | 2.31 |
| 50 | Abcd syndrome | Enrichment | EDNRB | 2.31 |
| 51 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.31 |
| 52 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.31 |
| 53 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.31 |
| 54 | Developmental and epileptic encephalopathy 50 | Enrichment | CAD | 2.31 |
| 55 | Long qt syndrome 14 | Enrichment | CALM1 | 2.31 |
| 56 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.31 |
| 57 | Lymphatic malformation 8 | Enrichment | CALCRL | 2.31 |
| 58 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 2.31 |
| 59 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.31 |
| 60 | Leber hereditary optic neuropathy, modifier of | Enrichment | MT-CO2 | 2.26 |
| 61 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Enrichment | MT-CO2 | 2.25 |
| 62 | Darier-white disease | Enrichment | ATP2A2 | 2.14 |
| 63 | Mccune-albright syndrome | Enrichment | GNAS | 2.14 |
| 64 | Hirschsprung disease 2 | Enrichment | EDNRB | 2.14 |
| 65 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.14 |
| 66 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 2.14 |
| 67 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 2.14 |
| 68 | Hypertelorism | Enrichment | MT-CO2 | 2.12 |
| 69 | Primary ovarian insufficiency | Enrichment | NOS3 | 2.06 |
| 70 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.01 |
| 71 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYLK | 2.01 |
| 72 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 2.01 |
| 73 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 2.01 |
| 74 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.01 |
| 75 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.01 |
| 76 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 2.01 |
| 77 | Leigh syndrome, nuclear | Enrichment | MT-CO2 | 1.99 |
| 78 | Leigh disease | Enrichment | MT-CO2 | 1.95 |
| 79 | Visceral myopathy 1 | Enrichment | MYLK | 1.92 |
| 80 | Mitochondrial disease | Enrichment | MT-CO2 | 1.89 |
| 81 | Leber plus disease | Enrichment | MT-CO2 | 1.86 |
| 82 | Waardenburg syndrome, type 4a | Enrichment | EDNRB | 1.84 |
| 83 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.84 |
| 84 | Waardenburg syndrome | Enrichment | EDNRB | 1.84 |
| 85 | Waardenburg syndrome, type 2e | Enrichment | EDNRB | 1.77 |
| 86 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.77 |
| 87 | Noonan syndrome 3 | Enrichment | RAF1 | 1.77 |
| 88 | Brachydactyly | Enrichment | GNAS | 1.77 |
| 89 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.77 |
| 90 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.71 |
| 91 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.71 |
| 92 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.71 |
| 93 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1 | 1.71 |
| 94 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.66 |
| 95 | Primary hyperaldosteronism | Enrichment | GNAS | 1.66 |
| 96 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.66 |
| 97 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.62 |
| 98 | Lung non-small cell carcinoma | Enrichment | MAP2K1 | 1.58 |
| 99 | Specific learning disability | Enrichment | MAPK1 | 1.58 |
| 100 | Retinitis pigmentosa | Enrichment | MT-CO2 | 1.51 |
| 101 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYLK | 1.47 |
| 102 | Heart, malformation of | Enrichment | MAPK1 | 1.37 |
| 103 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 1.28 |
| 104 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.25 |
| 105 | Developmental and epileptic encephalopathy 1 | Enrichment | CAD | 1.23 |
| 106 | Long qt syndrome 1 | Enrichment | CALM1 | 1.15 |
| 107 | Long qt syndrome | Enrichment | CALM1 | 1.14 |
| 108 | Non-immune hydrops fetalis | Enrichment | CALCRL | 1.14 |
| 109 | Cystic fibrosis | Enrichment | EDNRA | 1.12 |
| 110 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.11 |
| 111 | Left ventricular noncompaction | Enrichment | RAF1 | 1.09 |
| 112 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYLK | 0.99 |
| 113 | Body mass index quantitative trait locus 11 | Enrichment | GNAS | 0.94 |
| 114 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.92 |
| 115 | Deafness, autosomal recessive | Enrichment | EDNRB | 0.85 |
| 116 | Autosomal recessive nonsyndromic deafness | Enrichment | EDNRB | 0.84 |
| 117 | Rare genetic deafness | Enrichment | EDNRB | 0.76 |
| 118 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.75 |
| 119 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | EDNRB | 0.71 |
| 120 | Congenital nervous system abnormality | Enrichment | GNB5 | 0.64 |
| 121 | Nervous system disease | Enrichment | GNB5 | 0.64 |
| 122 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.63 |
| 123 | Microcephaly | Enrichment | MAPK1 | 0.59 |