| 1 | Coffin-siris syndrome 1 | Enrichment | ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1 | 10.35 |
| 2 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.42 |
| 3 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.42 |
| 4 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS, SOS1, SOS2 | 6.06 |
| 5 | Rasopathy | Enrichment | HRAS, KRAS, NRAS, SOS1, SOS2 | 5.78 |
| 6 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.71 |
| 7 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS, SOS1 | 5.31 |
| 8 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS | 4.78 |
| 9 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, SOS1 | 4.78 |
| 10 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.20 |
| 11 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.20 |
| 12 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.20 |
| 13 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4, SMARCB1 | 4.20 |
| 14 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.20 |
| 15 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS | 4.11 |
| 16 | Bladder cancer | Enrichment | ARID1A, HRAS, KRAS, TSC1 | 4.11 |
| 17 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS, PPARG | 4.11 |
| 18 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 3.73 |
| 19 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.73 |
| 20 | Hamartoma | Enrichment | TSC1, TSC2 | 3.73 |
| 21 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS, KDM1A | 3.73 |
| 22 | Myxofibrosarcoma | Enrichment | CREB3L1, CREB3L2 | 3.73 |
| 23 | Rare genetic intellectual disability | Enrichment | ARID1B, KDM3B, MTOR | 3.68 |
| 24 | Carnitine-acylcarnitine translocase deficiency | Enrichment | SLC25A20 | 3.43 |
| 25 | Nicolaides-baraitser syndrome | Enrichment | ARID1B, SMARCA2 | 3.43 |
| 26 | Blepharophimosis | Enrichment | ARID1B, SMARCA2 | 3.43 |
| 27 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.43 |
| 28 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.43 |
| 29 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | ARID1B, SMARCA2 | 3.43 |
| 30 | Hemimegalencephaly | Enrichment | MTOR, RHEB | 3.21 |
| 31 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, ADRB3, GNAS, PPARG | 3.18 |
| 32 | Carnitine palmitoyltransferase ii deficiency, infantile | Enrichment | CPT2 | 3.13 |
| 33 | Carnitine palmitoyltransferase ii deficiency, lethal neonatal | Enrichment | CPT2 | 3.13 |
| 34 | Carnitine palmitoyltransferase i deficiency | Enrichment | CPT1A | 3.13 |
| 35 | Carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced | Enrichment | CPT2 | 3.13 |
| 36 | Encephalopathy, acute, infection-induced 4 | Enrichment | CPT2 | 3.13 |
| 37 | Spastic paraplegia 73, autosomal dominant | Enrichment | CPT1C | 3.13 |
| 38 | Acute necrotizing encephalopathy of childhood | Enrichment | CPT2 | 3.13 |
| 39 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 2.89 |
| 40 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.89 |
| 41 | Pilomyxoid astrocytoma | Enrichment | FGFR1, KRAS | 2.89 |
| 42 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 2.89 |
| 43 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 2.77 |
| 44 | Gastroesophageal reflux | Enrichment | ACTL6A, RPS6KA3 | 2.77 |
| 45 | Autism spectrum disorder | Enrichment | ACTL6B, ARID1B, KDM3B, SMARCB1, TSC2 | 2.75 |
| 46 | Non-immune hydrops fetalis | Enrichment | ARID1A, HRAS, KRAS | 2.73 |
| 47 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 2.66 |
| 48 | Adult hepatocellular carcinoma | Enrichment | TSC1, TSC2 | 2.66 |
| 49 | Ventricular septal defect | Enrichment | RPS6KA3, SMARCA4 | 2.66 |
| 50 | Meningioma, familial | Enrichment | SMARCB1, SMARCE1 | 2.48 |
| 51 | Atrial heart septal defect | Enrichment | ACTL6A, SMARCA4 | 2.48 |
| 52 | Interatrial communication | Enrichment | ACTL6A, SMARCA4 | 2.48 |
| 53 | Septooptic dysplasia | Enrichment | ARID1A, FGFR1 | 2.41 |
| 54 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.41 |
| 55 | Meningioma | Enrichment | SMARCB1, SMARCE1 | 2.41 |
| 56 | Inherited cancer-predisposing syndrome | Enrichment | SMARCA4, SMARCB1, SMARCE1, TSC1, TSC2 | 2.39 |
| 57 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | ARID1A, ARID1B | 2.15 |
| 58 | Gliosarcoma | Enrichment | FGFR1, PPARG | 2.15 |
| 59 | Giant cell glioblastoma | Enrichment | FGFR1, PPARG | 2.10 |
| 60 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.10 |
| 61 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.10 |
| 62 | Torticollis | Enrichment | ACTL6A | 2.10 |
| 63 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.10 |
| 64 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.10 |
| 65 | Oculoectodermal syndrome | Enrichment | KRAS | 2.10 |
| 66 | Intellectual developmental disorder, x-linked 63 | Enrichment | ACSL4 | 2.10 |
| 67 | Noonan syndrome 4 | Enrichment | SOS1 | 2.10 |
| 68 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.10 |
| 69 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.10 |
| 70 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.10 |
| 71 | Noonan syndrome 9 | Enrichment | SOS2 | 2.10 |
| 72 | Coffin-siris syndrome 5 | Enrichment | SMARCE1 | 2.10 |
| 73 | Dyskinesia with orofacial involvement, autosomal dominant | Enrichment | ADCY5 | 2.10 |
| 74 | Noonan syndrome 6 | Enrichment | NRAS | 2.10 |
| 75 | Osteogenesis imperfecta, type xvi | Enrichment | CREB3L1 | 2.10 |
| 76 | Aortic aneurysm, familial thoracic 8 | Enrichment | PRKG1 | 2.10 |
| 77 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.10 |
| 78 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.10 |
| 79 | Intellectual developmental disorder with severe speech and ambulation defects | Enrichment | ACTL6B | 2.10 |
| 80 | Hypertriglyceridemia 2 | Enrichment | CREB3L3 | 2.10 |
| 81 | Coffin-siris syndrome 11 | Enrichment | SMARCD1 | 2.10 |
| 82 | Spondylometaphyseal dysplasia, pagnamenta type | Enrichment | PRKG2 | 2.10 |
| 83 | Hydrocephalus, congenital, 5 | Enrichment | SMARCC1 | 2.10 |
| 84 | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Enrichment | ADCY5 | 2.10 |
| 85 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.10 |
| 86 | Diarrhea 13 | Enrichment | ACSL5 | 2.10 |
| 87 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.10 |
| 88 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.10 |
| 89 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.10 |
| 90 | Left ventricular noncompaction 8 | Enrichment | PRDM16 | 2.10 |
| 91 | Cardiomyopathy, familial hypertrophic, 6 | Enrichment | PRKAG2 | 2.10 |
| 92 | Glycogen storage disease of heart, lethal congenital | Enrichment | PRKAG2 | 2.10 |
| 93 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.10 |
| 94 | Dyskinesia with orofacial involvement, autosomal recessive | Enrichment | ADCY5 | 2.10 |
| 95 | Becker nevus syndrome | Enrichment | ACTB | 2.10 |
| 96 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.10 |
| 97 | Rhabdoid tumor predisposition syndrome 1 | Enrichment | SMARCB1 | 2.10 |
| 98 | Cleft palate, psychomotor retardation, and distinctive facial features | Enrichment | KDM1A | 2.10 |
| 99 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.10 |
| 100 | Neurilemmoma | Enrichment | SMARCB1 | 2.10 |
| 101 | Disorders of gnas inactivation | Enrichment | GNAS | 2.10 |
| 102 | Coffin-siris syndrome 3 | Enrichment | SMARCB1 | 2.10 |
| 103 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.10 |
| 104 | Arid1b-related disorder | Enrichment | ARID1B | 2.10 |
| 105 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.10 |
| 106 | Hartsfield syndrome | Enrichment | FGFR1 | 2.10 |
| 107 | Skeletal muscle glycogen content and metabolism quantitative trait locus | Enrichment | PRKAG3 | 2.10 |
| 108 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.10 |
| 109 | Rare genetic epilepsy | Enrichment | KDM3B | 2.10 |
| 110 | Blepharophimosis-impaired intellectual development syndrome | Enrichment | SMARCA2 | 2.10 |
| 111 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.10 |
| 112 | Baraitser-winter syndrome | Enrichment | ACTB | 2.10 |
| 113 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.10 |
| 114 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | Enrichment | KDM1A | 2.10 |
| 115 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.10 |
| 116 | Facial cleft | Enrichment | SMARCE1 | 2.10 |
| 117 | Acth-independent macronodular adrenal hyperplasia 3 | Enrichment | KDM1A | 2.10 |
| 118 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.10 |
| 119 | Idiopathic hypercalciuria | Enrichment | ADCY10 | 2.10 |
| 120 | Autosomal recessive severe congenital neutropenia | Enrichment | SMARCD2 | 2.10 |
| 121 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.10 |
| 122 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.10 |
| 123 | Primary triglyceride deposit cardiomyovasculopathy | Enrichment | PNPLA2 | 2.10 |
| 124 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.10 |
| 125 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.10 |
| 126 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.10 |
| 127 | Mazabraud syndrome | Enrichment | GNAS | 2.10 |
| 128 | Lethal brain and heart developmental defects | Enrichment | SIRT6 | 2.10 |
| 129 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.10 |
| 130 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.80 |
| 131 | Alopecia, androgenetic, 1 | Enrichment | SMARCD1 | 1.80 |
| 132 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.80 |
| 133 | Hypercalciuria, absorptive, 2 | Enrichment | ADCY10 | 1.80 |
| 134 | Costello syndrome | Enrichment | HRAS | 1.80 |
| 135 | Trichomegaly | Enrichment | ARID1B | 1.80 |
| 136 | Specific granule deficiency 1 | Enrichment | SMARCD2 | 1.80 |
| 137 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 1.80 |
| 138 | Pulmonic stenosis | Enrichment | SOS1 | 1.80 |
| 139 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.80 |
| 140 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 1.80 |
| 141 | Neutral lipid storage disease with myopathy | Enrichment | PNPLA2 | 1.80 |
| 142 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.80 |
| 143 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.80 |
| 144 | Schwannomatosis 1 | Enrichment | SMARCB1 | 1.80 |
| 145 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.80 |
| 146 | Pfeiffer syndrome | Enrichment | FGFR1 | 1.80 |
| 147 | Jackson-weiss syndrome | Enrichment | FGFR1 | 1.80 |
| 148 | Chromosome 6q24-q25 deletion syndrome | Enrichment | ARID1B | 1.80 |
| 149 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.80 |
| 150 | Lethal congenital contracture syndrome 8 | Enrichment | ADCY6 | 1.80 |
| 151 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.80 |
| 152 | Severe combined immunodeficiency with sensitivity to ionizing radiation | Enrichment | ARID1B | 1.80 |
| 153 | Specific granule deficiency 2 | Enrichment | SMARCD2 | 1.80 |
| 154 | Coffin-siris syndrome 8 | Enrichment | SMARCC2 | 1.80 |
| 155 | Cebalid syndrome | Enrichment | MTOR | 1.80 |
| 156 | Diets-jongmans syndrome | Enrichment | KDM3B | 1.80 |
| 157 | Acromesomelic dysplasia 4 | Enrichment | PRKG2 | 1.80 |
| 158 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.80 |
| 159 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.80 |
| 160 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 1.80 |
| 161 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.80 |
| 162 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.80 |
| 163 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.80 |
| 164 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.80 |
| 165 | Blepharophimosis - intellectual disability syndrome | Enrichment | SMARCA2 | 1.80 |
| 166 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.80 |
| 167 | Developmental and epileptic encephalopathy 76 | Enrichment | ACTL6B | 1.80 |
| 168 | Familial partial lipodystrophy | Enrichment | PPARG | 1.80 |
| 169 | Transient infantile hypertriglyceridemia and hepatosteatosis | Enrichment | CREB3L3 | 1.80 |
| 170 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.80 |
| 171 | Specific granule deficiency | Enrichment | SMARCD2 | 1.80 |
| 172 | Wooly hair nevus | Enrichment | HRAS | 1.80 |
| 173 | Microcephaly | Enrichment | ACTB, ACTG1, ARID1A, ARID1B | 1.78 |
| 174 | Hydrops fetalis, nonimmune | Enrichment | ARID1A, HRAS | 1.74 |
| 175 | Mccune-albright syndrome | Enrichment | GNAS | 1.63 |
| 176 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.63 |
| 177 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.63 |
| 178 | Nuchal bleb, familial | Enrichment | SOS1 | 1.63 |
| 179 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.63 |
| 180 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.63 |
| 181 | Lipodystrophy, familial partial, type 6 | Enrichment | LIPE | 1.63 |
| 182 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.63 |
| 183 | Lipodystrophy, familial partial, type 4 | Enrichment | PLIN1 | 1.63 |
| 184 | Nail disorder, nonsyndromic congenital, 9 | Enrichment | ARID1B | 1.63 |
| 185 | Coffin-siris syndrome 2 | Enrichment | ARID1A | 1.63 |
| 186 | Umbilical hernia | Enrichment | ACTL6A | 1.63 |
| 187 | Atypical teratoid rhabdoid tumor | Enrichment | SMARCB1 | 1.63 |
| 188 | Xanthinuria, type ii | Enrichment | TSC2 | 1.63 |
| 189 | Periventricular leukomalacia | Enrichment | ARID1A | 1.63 |
| 190 | Spermatocytoma | Enrichment | HRAS | 1.63 |
| 191 | Schwannomatosis | Enrichment | SMARCB1 | 1.63 |
| 192 | Melanoma of soft tissue | Enrichment | CREB1 | 1.63 |
| 193 | Hypomyelination neuropathy-arthrogryposis syndrome | Enrichment | ADCY6 | 1.63 |
| 194 | Chorea, benign hereditary | Enrichment | ADCY5 | 1.50 |
| 195 | Hypertriglyceridemia 1 | Enrichment | CREB3L3 | 1.50 |
| 196 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.50 |
| 197 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.50 |
| 198 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.50 |
| 199 | Lipodystrophy, congenital generalized, type 2 | Enrichment | ACTL6B | 1.50 |
| 200 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.50 |
| 201 | Amme complex | Enrichment | ACSL4 | 1.50 |
| 202 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.50 |
| 203 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.50 |
| 204 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.50 |
| 205 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.50 |
| 206 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.50 |
| 207 | Pilocytic astrocytoma | Enrichment | KRAS | 1.50 |
| 208 | Epidermolytic nevus | Enrichment | HRAS | 1.50 |
| 209 | Full schwannomatosis | Enrichment | SMARCB1 | 1.50 |
| 210 | Gingival fibromatosis | Enrichment | SOS1 | 1.50 |
| 211 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.50 |
| 212 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.50 |
| 213 | Colorectal cancer | Enrichment | ARID1A, NRAS, PPARG | 1.49 |
| 214 | Non-syndromic x-linked intellectual disability | Enrichment | ACSL4, RPS6KA3 | 1.48 |
| 215 | Congenital nervous system abnormality | Enrichment | CPT2 | 1.41 |
| 216 | Nervous system disease | Enrichment | CPT2 | 1.41 |
| 217 | Holoprosencephaly | Enrichment | FGFR1 | 1.41 |
| 218 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.41 |
| 219 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.41 |
| 220 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.40 |
| 221 | Ovarian cancer | Enrichment | KRAS, SMARCB1, TSC2 | 1.33 |
| 222 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.33 |
| 223 | Wiedemann-steiner syndrome | Enrichment | ARID1B | 1.33 |
| 224 | Inguinal hernia | Enrichment | ACTL6A | 1.33 |
| 225 | Keratoconus | Enrichment | TSC1 | 1.33 |
| 226 | Breast adenocarcinoma | Enrichment | KRAS | 1.33 |
| 227 | Lung squamous cell carcinoma | Enrichment | KRAS | 1.33 |
| 228 | Hypertrichosis | Enrichment | ARID1B | 1.33 |
| 229 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.26 |
| 230 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.26 |
| 231 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.26 |
| 232 | Brachydactyly | Enrichment | GNAS | 1.26 |
| 233 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.26 |
| 234 | Gallbladder cancer | Enrichment | KRAS | 1.26 |
| 235 | Congenital hydrocephalus | Enrichment | SMARCC1 | 1.26 |
| 236 | Overgrowth syndrome | Enrichment | MTOR | 1.26 |
| 237 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.21 |
| 238 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.21 |
| 239 | Neuroblastoma | Enrichment | SMARCA4 | 1.21 |
| 240 | Arteriovenous malformation | Enrichment | HRAS | 1.16 |
| 241 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.16 |
| 242 | Primary hyperaldosteronism | Enrichment | GNAS | 1.16 |
| 243 | Cat eye syndrome | Enrichment | ACTG1 | 1.11 |
| 244 | Stroke, ischemic | Enrichment | ACSL4 | 1.11 |
| 245 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.11 |
| 246 | Specific learning disability | Enrichment | RPS6KA3 | 1.07 |
| 247 | Lip and oral cavity carcinoma | Enrichment | HRAS | 1.04 |
| 248 | Aortic valve disease 1 | Enrichment | SOS1 | 1.01 |
| 249 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.01 |
| 250 | Chromosome 1p36 deletion syndrome | Enrichment | PRDM16 | 1.01 |
| 251 | Protein-deficiency anemia | Enrichment | NRAS | 1.01 |
| 252 | Nk-cell enteropathy | Enrichment | SMARCB1 | 1.01 |
| 253 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.98 |
| 254 | Lung cancer susceptibility 3 | Enrichment | KRAS | 0.98 |
| 255 | Pituitary stalk interruption syndrome | Enrichment | SMARCA2 | 0.98 |
| 256 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.98 |
| 257 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 0.95 |
| 258 | Corpus callosum, agenesis of | Enrichment | ARID1B | 0.95 |
| 259 | Osteogenesis imperfecta, type iii | Enrichment | CREB3L1 | 0.95 |
| 260 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 0.95 |
| 261 | Lynch syndrome | Enrichment | KRAS | 0.95 |
| 262 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 0.95 |
| 263 | Kidney disease | Enrichment | TSC1 | 0.95 |
| 264 | Isolated corpus callosum agenesis | Enrichment | ARID1B | 0.95 |
| 265 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | ARID1B | 0.95 |
| 266 | Wolff-parkinson-white syndrome | Enrichment | PRKAG2 | 0.92 |
| 267 | Rhabdomyosarcoma | Enrichment | HRAS | 0.92 |
| 268 | Microform holoprosencephaly | Enrichment | FGFR1 | 0.92 |
| 269 | Lobar holoprosencephaly | Enrichment | FGFR1 | 0.92 |
| 270 | Cleft palate, isolated | Enrichment | SMARCA4 | 0.90 |
| 271 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 0.87 |
| 272 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.87 |
| 273 | Arteriovenous malformations of the brain | Enrichment | KRAS | 0.85 |
| 274 | Lissencephaly | Enrichment | ACTG1 | 0.81 |
| 275 | Tooth agenesis | Enrichment | FGFR1 | 0.79 |
| 276 | Brittle bone disorder | Enrichment | CREB3L1 | 0.77 |
| 277 | Kallmann syndrome | Enrichment | FGFR1 | 0.77 |
| 278 | Pancreatic cancer | Enrichment | KRAS | 0.74 |
| 279 | Lung cancer | Enrichment | KRAS | 0.65 |
| 280 | Familial hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 0.63 |
| 281 | Cakut | Enrichment | ACTG1 | 0.62 |
| 282 | Left ventricular noncompaction | Enrichment | PRDM16 | 0.61 |
| 283 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.60 |
| 284 | Complex neurodevelopmental disorder | Enrichment | ACTL6A, ACTL6B | 0.59 |
| 285 | Cerebral palsy | Enrichment | SMARCA4 | 0.57 |
| 286 | Type 2 diabetes mellitus | Enrichment | PPARG | 0.54 |
| 287 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.54 |
| 288 | Gastric cancer | Enrichment | KRAS | 0.54 |
| 289 | Hypertrophic cardiomyopathy | Enrichment | PRKAG2 | 0.54 |
| 290 | West syndrome | Enrichment | TSC2 | 0.53 |
| 291 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | PRKG1 | 0.53 |
| 292 | Hereditary breast carcinoma | Enrichment | KRAS | 0.53 |
| 293 | Hypertelorism | Enrichment | RPS6KA3 | 0.47 |
| 294 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.47 |
| 295 | Familial isolated dilated cardiomyopathy | Enrichment | PRDM16 | 0.46 |
| 296 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.45 |
| 297 | Myeloma, multiple | Enrichment | KRAS | 0.44 |
| 298 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | KLB | 0.44 |
| 299 | Undetermined early-onset epileptic encephalopathy | Enrichment | ACTL6B | 0.44 |
| 300 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PPARGC1A | 0.43 |
| 301 | Primary ovarian insufficiency | Enrichment | SIRT6 | 0.42 |
| 302 | Autism | Enrichment | ACTL6B | 0.36 |
| 303 | Breast cancer | Enrichment | KRAS | 0.35 |
| 304 | Rare genetic deafness | Enrichment | ACTG1 | 0.33 |
| 305 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.29 |