| 1 | Noonan syndrome 1 | Enrichment | MAP2K1, MAP2K2, PPP1CB, RAF1 | 6.21 |
| 2 | Rasopathy | Enrichment | MAP2K1, MAP2K2, PPP1CB, RAF1 | 5.99 |
| 3 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.05 |
| 4 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1, MAP2K2, RAF1 | 4.94 |
| 5 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 4.27 |
| 6 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 4.27 |
| 7 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 3.53 |
| 8 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.50 |
| 9 | Melanoma of soft tissue | Enrichment | CREB1 | 3.35 |
| 10 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, GRIA1, GRIN1 | 3.34 |
| 11 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 2.52 |
| 12 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.52 |
| 13 | Pallister-killian syndrome | Enrichment | ARAF | 2.52 |
| 14 | Noonan syndrome 5 | Enrichment | RAF1 | 2.52 |
| 15 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.52 |
| 16 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.52 |
| 17 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.52 |
| 18 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.52 |
| 19 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.52 |
| 20 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.52 |
| 21 | Spinocerebellar ataxia, autosomal recessive 13 | Enrichment | GRM1 | 2.52 |
| 22 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.52 |
| 23 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.52 |
| 24 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.52 |
| 25 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.52 |
| 26 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.52 |
| 27 | Intellectual developmental disorder, x-linked, syndromic, wu type | Enrichment | GRIA3 | 2.52 |
| 28 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.52 |
| 29 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.52 |
| 30 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.52 |
| 31 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.52 |
| 32 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.52 |
| 33 | Becker nevus syndrome | Enrichment | ACTB | 2.52 |
| 34 | Melorheostosis | Enrichment | MAP2K1 | 2.52 |
| 35 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.52 |
| 36 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.52 |
| 37 | Leopard syndrome 2 | Enrichment | RAF1 | 2.52 |
| 38 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.52 |
| 39 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.52 |
| 40 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | Enrichment | GRIA2 | 2.52 |
| 41 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.52 |
| 42 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.52 |
| 43 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.52 |
| 44 | Disorders of gnas inactivation | Enrichment | GNAS | 2.52 |
| 45 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.52 |
| 46 | Neurodevelopmental disorder with or without seizures and gait abnormalities | Enrichment | GRIA4 | 2.52 |
| 47 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.52 |
| 48 | Intellectual developmental disorder, autosomal dominant 67 | Enrichment | GRIA1 | 2.52 |
| 49 | Noonan syndrome-like disorder with loose anagen hair 2 | Enrichment | PPP1CB | 2.52 |
| 50 | Spinocerebellar ataxia 44 | Enrichment | GRM1 | 2.52 |
| 51 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.52 |
| 52 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.52 |
| 53 | Intellectual developmental disorder, autosomal recessive 76 | Enrichment | GRIA1 | 2.52 |
| 54 | Trigonitis | Enrichment | RAF1 | 2.52 |
| 55 | Baraitser-winter syndrome | Enrichment | ACTB | 2.52 |
| 56 | Syndromic x-linked intellectual disability 94 | Enrichment | GRIA3 | 2.52 |
| 57 | Autonomic nervous system disease | Enrichment | DRD4 | 2.52 |
| 58 | Landau-kleffner syndrome | Enrichment | GRIN2A | 2.52 |
| 59 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.52 |
| 60 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.52 |
| 61 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.52 |
| 62 | Gria2-related neurodevelopmental disorder | Enrichment | GRIA2 | 2.52 |
| 63 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 2.52 |
| 64 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.52 |
| 65 | Grin2a-related disorders | Enrichment | GRIN2A | 2.52 |
| 66 | Chondromyxoid fibroma | Enrichment | GRM1 | 2.52 |
| 67 | Mazabraud syndrome | Enrichment | GNAS | 2.52 |
| 68 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.52 |
| 69 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.52 |
| 70 | Microcephaly | Enrichment | ACTB, ACTG1, MAPK1 | 2.22 |
| 71 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.22 |
| 72 | Spinocerebellar ataxia, x-linked 1 | Enrichment | GJB1 | 2.22 |
| 73 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 2.22 |
| 74 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.22 |
| 75 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.22 |
| 76 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.22 |
| 77 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.22 |
| 78 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.22 |
| 79 | Long qt syndrome 14 | Enrichment | CALM1 | 2.22 |
| 80 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | PPP1CB | 2.22 |
| 81 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.22 |
| 82 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 2.22 |
| 83 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.22 |
| 84 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.22 |
| 85 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 2.22 |
| 86 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.22 |
| 87 | Tafro syndrome | Enrichment | MAP2K2 | 2.22 |
| 88 | Intestinal obstruction | Enrichment | ACTG2 | 2.22 |
| 89 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 2.22 |
| 90 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1, GRIN2A | 2.17 |
| 91 | Centralopathic epilepsy | Enrichment | GRIN1, GRIN2A | 2.13 |
| 92 | West syndrome | Enrichment | GRIA3, GRIN1 | 2.11 |
| 93 | Mccune-albright syndrome | Enrichment | GNAS | 2.04 |
| 94 | Charcot-marie-tooth disease, x-linked dominant, 1 | Enrichment | GJB1 | 2.04 |
| 95 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.04 |
| 96 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 2.04 |
| 97 | Body mass index quantitative trait locus 11 | Enrichment | GNAS, GRIA4 | 2.00 |
| 98 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 1.92 |
| 99 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.92 |
| 100 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.92 |
| 101 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.92 |
| 102 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.92 |
| 103 | Hereditary ataxia | Enrichment | PRKCG | 1.92 |
| 104 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.92 |
| 105 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.92 |
| 106 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIA1, GRIN1 | 1.88 |
| 107 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | GJB1 | 1.82 |
| 108 | Visceral myopathy 1 | Enrichment | ACTG2 | 1.82 |
| 109 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.82 |
| 110 | Sensory peripheral neuropathy | Enrichment | GJB1 | 1.82 |
| 111 | Dystonia 11, myoclonic | Enrichment | DRD2 | 1.74 |
| 112 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.74 |
| 113 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 1.74 |
| 114 | Pain disorder | Enrichment | GJB1 | 1.74 |
| 115 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.68 |
| 116 | Noonan syndrome 3 | Enrichment | RAF1 | 1.68 |
| 117 | Brachydactyly | Enrichment | GNAS | 1.68 |
| 118 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.68 |
| 119 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.62 |
| 120 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.62 |
| 121 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.62 |
| 122 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1 | 1.62 |
| 123 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.57 |
| 124 | Primary hyperaldosteronism | Enrichment | GNAS | 1.57 |
| 125 | Cat eye syndrome | Enrichment | ACTG1 | 1.53 |
| 126 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.53 |
| 127 | Lung non-small cell carcinoma | Enrichment | MAP2K1 | 1.48 |
| 128 | Specific learning disability | Enrichment | MAPK1 | 1.48 |
| 129 | Autism spectrum disorder | Enrichment | GRIA1, MAP2K1 | 1.37 |
| 130 | Dandy-walker syndrome | Enrichment | PPP1CB | 1.30 |
| 131 | Heart, malformation of | Enrichment | MAPK1 | 1.28 |
| 132 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.28 |
| 133 | Lissencephaly | Enrichment | ACTG1 | 1.21 |
| 134 | Attention deficit-hyperactivity disorder | Enrichment | DRD4 | 1.19 |
| 135 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.15 |
| 136 | Developmental and epileptic encephalopathy 1 | Enrichment | GRIN1 | 1.14 |
| 137 | Long qt syndrome 1 | Enrichment | CALM1 | 1.06 |
| 138 | Long qt syndrome | Enrichment | CALM1 | 1.05 |
| 139 | Peripheral nervous system disease | Enrichment | GJB1 | 1.03 |
| 140 | Neuropathy | Enrichment | GJB1 | 1.03 |
| 141 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.02 |
| 142 | Cakut | Enrichment | ACTG1 | 1.01 |
| 143 | Left ventricular noncompaction | Enrichment | RAF1 | 1.00 |
| 144 | Dystonia | Enrichment | GRIA3 | 1.00 |
| 145 | Developmental and epileptic encephalopathy | Enrichment | GRIA3 | 0.99 |
| 146 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.99 |
| 147 | Epilepsy | Enrichment | GRIN2A | 0.94 |
| 148 | Charcot-marie-tooth disease | Enrichment | GJB1 | 0.93 |
| 149 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.92 |
| 150 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.84 |
| 151 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.83 |
| 152 | Rare genetic deafness | Enrichment | ACTG1 | 0.67 |
| 153 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.67 |
| 154 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.63 |
| 155 | Complex neurodevelopmental disorder | Enrichment | GRIA4 | 0.50 |