| 1 | Lipoid congenital adrenal hyperplasia | Enrichment | CYP11A1, CYP11B1, CYP21A2, HSD3B2, STAR | 7.63 |
| 2 | Primary hyperaldosteronism | Enrichment | BRAF, CACNA1H, GNAS | 4.62 |
| 3 | Phakomatosis cesioflammea | Enrichment | GNA11, GNAQ | 4.35 |
| 4 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 3.88 |
| 5 | Anastomosing haemangioma | Enrichment | GNA11, GNAQ | 3.88 |
| 6 | Hypertension, essential | Enrichment | ECE1, GNB3, NOS3 | 3.73 |
| 7 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 3.58 |
| 8 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 3.58 |
| 9 | Craniopharyngioma | Enrichment | BRAF, CTNNB1 | 3.58 |
| 10 | Capillary malformations, congenital | Enrichment | GNA11, GNAQ | 3.36 |
| 11 | Histiocytoid hemangioma | Enrichment | FOS, FOSB | 3.36 |
| 12 | Melanoma, uveal | Enrichment | GNA11, GNAQ | 3.18 |
| 13 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | Enrichment | CYP11A1, CYP21A2 | 3.18 |
| 14 | Wilms tumor 5 | Enrichment | BRAF, TRIM28 | 3.18 |
| 15 | 21-hydroxylase-deficient congenital adrenal hyperplasia | Enrichment | CYP11A1, CYP21A2 | 3.18 |
| 16 | Gallbladder cancer | Enrichment | BRAF, CTNNB1 | 3.04 |
| 17 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS, TCF4 | 2.92 |
| 18 | Microcephaly | Enrichment | CTNNB1, GNAO1, GNB1, MAPK1, TCF4 | 2.85 |
| 19 | Lung non-small cell carcinoma | Enrichment | BRAF, MAP2K1 | 2.63 |
| 20 | Epicanthus | Enrichment | TCF4, TFAP2A | 2.55 |
| 21 | Wilms tumor 1 | Enrichment | BRAF, TRIM28 | 2.36 |
| 22 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, MAP2K1 | 2.36 |
| 23 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, GNB1, TCF4 | 2.34 |
| 24 | Autism spectrum disorder | Enrichment | GNB1, MAP2K1, NR4A2, TCF4 | 2.21 |
| 25 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.17 |
| 26 | Ichthyosis hystrix, curth-macklin type | Enrichment | KRT1 | 2.17 |
| 27 | Dermatopathia pigmentosa reticularis | Enrichment | KRT14 | 2.17 |
| 28 | Proteus syndrome | Enrichment | AKT1 | 2.17 |
| 29 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.17 |
| 30 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.17 |
| 31 | Palmoplantar keratoderma, nonepidermolytic | Enrichment | KRT1 | 2.17 |
| 32 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.17 |
| 33 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.17 |
| 34 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.17 |
| 35 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.17 |
| 36 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.17 |
| 37 | Noonan syndrome 7 | Enrichment | BRAF | 2.17 |
| 38 | Leopard syndrome 3 | Enrichment | BRAF | 2.17 |
| 39 | Naegeli-franceschetti-jadassohn syndrome | Enrichment | KRT14 | 2.17 |
| 40 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.17 |
| 41 | Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete | Enrichment | CYP11A1 | 2.17 |
| 42 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.17 |
| 43 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.17 |
| 44 | Sturge-weber syndrome | Enrichment | GNAQ | 2.17 |
| 45 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.17 |
| 46 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.17 |
| 47 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.17 |
| 48 | Naxos disease | Enrichment | JUP | 2.17 |
| 49 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.17 |
| 50 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.17 |
| 51 | Ichthyosis, annular epidermolytic, 2 | Enrichment | KRT1 | 2.17 |
| 52 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.17 |
| 53 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.17 |
| 54 | Acetyl-coa carboxylase-alpha deficiency | Enrichment | ACACA | 2.17 |
| 55 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.17 |
| 56 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.17 |
| 57 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.17 |
| 58 | Keratosis palmoplantaris striata iii | Enrichment | KRT1 | 2.17 |
| 59 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.17 |
| 60 | Lymphangioma | Enrichment | BRAF | 2.17 |
| 61 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.17 |
| 62 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.17 |
| 63 | Phace association | Enrichment | BRAF | 2.17 |
| 64 | Melorheostosis | Enrichment | MAP2K1 | 2.17 |
| 65 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | Enrichment | ECE1 | 2.17 |
| 66 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.17 |
| 67 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.17 |
| 68 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.17 |
| 69 | Cowden syndrome 6 | Enrichment | AKT1 | 2.17 |
| 70 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.17 |
| 71 | Disorders of gnas inactivation | Enrichment | GNAS | 2.17 |
| 72 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.17 |
| 73 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.17 |
| 74 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.17 |
| 75 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.17 |
| 76 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.17 |
| 77 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.17 |
| 78 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.17 |
| 79 | Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism | Enrichment | NR4A2 | 2.17 |
| 80 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.17 |
| 81 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.17 |
| 82 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.17 |
| 83 | Palmoplantar keratoderma, epidermolytic, 2 | Enrichment | KRT1 | 2.17 |
| 84 | Conn's syndrome | Enrichment | CACNA1H | 2.17 |
| 85 | Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency | Enrichment | CYP11A1 | 2.17 |
| 86 | Wilms tumor 7 | Enrichment | TRIM28 | 2.17 |
| 87 | Non-classic congenital lipoid adrenal hyperplasia due to star deficency | Enrichment | STAR | 2.17 |
| 88 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.17 |
| 89 | Aplasia cutis-enamel dysplasia syndrome | Enrichment | FOSL2 | 2.17 |
| 90 | Ganglioglioma | Enrichment | BRAF | 2.17 |
| 91 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.17 |
| 92 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.17 |
| 93 | Phace syndrome | Enrichment | BRAF | 2.17 |
| 94 | Gnao1-related disorder | Enrichment | GNAO1 | 2.17 |
| 95 | Classic hairy cell leukemia | Enrichment | BRAF | 2.17 |
| 96 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.17 |
| 97 | Mazabraud syndrome | Enrichment | GNAS | 2.17 |
| 98 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.17 |
| 99 | Classic congenital lipoid adrenal hyperplasia due to star deficency | Enrichment | STAR | 2.17 |
| 100 | Noonan syndrome 1 | Enrichment | BRAF, MAP2K1 | 1.99 |
| 101 | Rasopathy | Enrichment | BRAF, MAP2K1 | 1.89 |
| 102 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.87 |
| 103 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.87 |
| 104 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 1.87 |
| 105 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Enrichment | HSD3B2 | 1.87 |
| 106 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 1.87 |
| 107 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.87 |
| 108 | Toe syndactyly, telecanthus, and anogenital and renal malformations | Enrichment | STAR | 1.87 |
| 109 | Pulmonic stenosis | Enrichment | BRAF | 1.87 |
| 110 | Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT14 | 1.87 |
| 111 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.87 |
| 112 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS | 1.87 |
| 113 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.87 |
| 114 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | KRT1 | 1.87 |
| 115 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 1.87 |
| 116 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.87 |
| 117 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.87 |
| 118 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.87 |
| 119 | Syndactyly, type iii | Enrichment | GJA1 | 1.87 |
| 120 | Syndactyly, type v | Enrichment | GJA1 | 1.87 |
| 121 | Acth deficiency, isolated | Enrichment | TBX19 | 1.87 |
| 122 | Sjogren-larsson syndrome | Enrichment | KRT14 | 1.87 |
| 123 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.87 |
| 124 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.87 |
| 125 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.87 |
| 126 | Hypospadias 1, x-linked | Enrichment | HSD3B2 | 1.87 |
| 127 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.87 |
| 128 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.87 |
| 129 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.87 |
| 130 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 1.87 |
| 131 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.87 |
| 132 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.87 |
| 133 | Ectodermal dysplasia and immune deficiency | Enrichment | NFKBIA | 1.87 |
| 134 | Hypopituitarism | Enrichment | GNAI2 | 1.87 |
| 135 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.87 |
| 136 | 3 beta-hydroxysteroid dehydrogenase deficiency | Enrichment | HSD3B2 | 1.87 |
| 137 | Esotropia | Enrichment | TFAP2A | 1.87 |
| 138 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.87 |
| 139 | Congenital isolated adrenocorticotropic hormone deficiency | Enrichment | TBX19 | 1.87 |
| 140 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.87 |
| 141 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion | Enrichment | NR4A2 | 1.87 |
| 142 | Teratoma | Enrichment | CTNNB1 | 1.87 |
| 143 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.87 |
| 144 | Lens subluxation | Enrichment | TFAP2A | 1.87 |
| 145 | Cerebral visual impairment | Enrichment | GNB1 | 1.87 |
| 146 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.70 |
| 147 | Mccune-albright syndrome | Enrichment | GNAS | 1.70 |
| 148 | Palmoplantar keratoderma, epidermolytic, 1 | Enrichment | KRT1 | 1.70 |
| 149 | Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency | Enrichment | CYP11B1 | 1.70 |
| 150 | Ataxia-telangiectasia | Enrichment | BRAF | 1.70 |
| 151 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 1.70 |
| 152 | Ichthyosis with confetti | Enrichment | KRT1 | 1.70 |
| 153 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 1.70 |
| 154 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.70 |
| 155 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 1.70 |
| 156 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.70 |
| 157 | Ichthyosis, annular epidermolytic, 1 | Enrichment | KRT1 | 1.70 |
| 158 | Anus, imperforate | Enrichment | CTNNB1 | 1.70 |
| 159 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.70 |
| 160 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.70 |
| 161 | Desmoid tumor | Enrichment | CTNNB1 | 1.70 |
| 162 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 1.70 |
| 163 | Keratosis palmoplantaris striata | Enrichment | KRT1 | 1.70 |
| 164 | Deficiency of steroid 11-beta-monooxygenase | Enrichment | CYP11B1 | 1.70 |
| 165 | Gtp cyclohydrolase 1-deficient dopa-responsive dystonia | Enrichment | NR4A2 | 1.70 |
| 166 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.70 |
| 167 | Melanoma of soft tissue | Enrichment | CREB1 | 1.70 |
| 168 | Annular epidermolytic ichthyosis | Enrichment | KRT1 | 1.70 |
| 169 | Autosomal dominant epidermolytic ichthyosis | Enrichment | KRT1 | 1.70 |
| 170 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 1.70 |
| 171 | Colorectal cancer | Enrichment | AKT1, BRAF, CTNNB1 | 1.69 |
| 172 | Epidermolysis bullosa simplex 1b, generalized intermediate | Enrichment | KRT14 | 1.58 |
| 173 | Branchiooculofacial syndrome | Enrichment | TFAP2A | 1.58 |
| 174 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.58 |
| 175 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.58 |
| 176 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.58 |
| 177 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.58 |
| 178 | Pilomatrixoma | Enrichment | CTNNB1 | 1.58 |
| 179 | Alazami syndrome | Enrichment | CTNNB1 | 1.58 |
| 180 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.58 |
| 181 | Epidermolysis bullosa simplex generalized type | Enrichment | KRT14 | 1.58 |
| 182 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 1.58 |
| 183 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.58 |
| 184 | Epidermolytic hyperkeratosis | Enrichment | KRT1 | 1.58 |
| 185 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.58 |
| 186 | Pseudomyogenic hemangioendothelioma | Enrichment | FOSB | 1.58 |
| 187 | Epidermolysis bullosa simplex 2f, with mottled pigmentation | Enrichment | KRT14 | 1.48 |
| 188 | Epidermolysis bullosa simplex 1a, generalized severe | Enrichment | KRT14 | 1.48 |
| 189 | Alzheimer disease 2 | Enrichment | NOS3 | 1.48 |
| 190 | Epidermolytic hyperkeratosis 1 | Enrichment | KRT1 | 1.48 |
| 191 | Epidermolysis bullosa simplex 1c, localized | Enrichment | KRT14 | 1.48 |
| 192 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.48 |
| 193 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.48 |
| 194 | Pre-eclampsia | Enrichment | NOS3 | 1.48 |
| 195 | Follicular lymphoma | Enrichment | BCL2 | 1.48 |
| 196 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.48 |
| 197 | Amblyopia | Enrichment | TFAP2A | 1.48 |
| 198 | Cleft upper lip | Enrichment | GJA1 | 1.48 |
| 199 | Familial glucocorticoid deficiency | Enrichment | STAR | 1.48 |
| 200 | Congenital nervous system abnormality | Enrichment | CTNNB1, GNAO1, GNB5 | 1.46 |
| 201 | Nervous system disease | Enrichment | CTNNB1, GNAO1, GNB5 | 1.46 |
| 202 | Hyperaldosteronism, familial, type i | Enrichment | CYP11B1 | 1.40 |
| 203 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ | 1.40 |
| 204 | Branchiootorenal syndrome 1 | Enrichment | TFAP2A | 1.40 |
| 205 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.40 |
| 206 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.40 |
| 207 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.40 |
| 208 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.40 |
| 209 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.40 |
| 210 | Breast adenocarcinoma | Enrichment | AKT1 | 1.40 |
| 211 | Childhood absence epilepsy | Enrichment | CACNA1H | 1.40 |
| 212 | Body mass index quantitative trait locus 11 | Enrichment | GNAS, POMC | 1.35 |
| 213 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.34 |
| 214 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.34 |
| 215 | Brachydactyly | Enrichment | GNAS | 1.34 |
| 216 | Branchiootorenal syndrome | Enrichment | TFAP2A | 1.34 |
| 217 | Pilomyxoid astrocytoma | Enrichment | BRAF | 1.34 |
| 218 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.34 |
| 219 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.34 |
| 220 | Epidermolysis bullosa simplex | Enrichment | KRT14 | 1.34 |
| 221 | Autosomal dominant sleep-related hypermotor epilepsy | Enrichment | CRH | 1.34 |
| 222 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF | 1.28 |
| 223 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.28 |
| 224 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 1.28 |
| 225 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.28 |
| 226 | Hypothyroidism | Enrichment | GNB1 | 1.28 |
| 227 | Choreatic disease | Enrichment | GNAO1 | 1.28 |
| 228 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.28 |
| 229 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.23 |
| 230 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.23 |
| 231 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.23 |
| 232 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.23 |
| 233 | Ventricular septal defect | Enrichment | BRAF | 1.23 |
| 234 | Cowden syndrome | Enrichment | AKT1 | 1.23 |
| 235 | Cat eye syndrome | Enrichment | TFAP2A | 1.19 |
| 236 | Stroke, ischemic | Enrichment | NOS3 | 1.19 |
| 237 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.19 |
| 238 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.19 |
| 239 | Melanoma | Enrichment | BRAF | 1.19 |
| 240 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.15 |
| 241 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.15 |
| 242 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.15 |
| 243 | Movement disease | Enrichment | GNAO1 | 1.15 |
| 244 | Specific learning disability | Enrichment | MAPK1 | 1.15 |
| 245 | Meningioma | Enrichment | AKT1 | 1.11 |
| 246 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | JUP | 1.11 |
| 247 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | JUP | 1.11 |
| 248 | Lip and oral cavity carcinoma | Enrichment | BRAF | 1.11 |
| 249 | Stereotypic movement disorder | Enrichment | TCF4 | 1.08 |
| 250 | Medulloblastoma | Enrichment | CTNNB1 | 1.05 |
| 251 | Lung cancer susceptibility 3 | Enrichment | BRAF | 1.05 |
| 252 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | JUP | 1.05 |
| 253 | Breast cancer | Enrichment | AKT1, IL2 | 1.04 |
| 254 | Rare genetic intellectual disability | Enrichment | GNAO1 | 1.02 |
| 255 | Dilated cardiomyopathy | Enrichment | BRAF, JUP | 1.00 |
| 256 | Wolff-parkinson-white syndrome | Enrichment | JUP | 0.99 |
| 257 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | JUP | 0.99 |
| 258 | Gliosarcoma | Enrichment | NFKBIA | 0.99 |
| 259 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 0.97 |
| 260 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.97 |
| 261 | Cleft palate, isolated | Enrichment | GNB1 | 0.97 |
| 262 | Dandy-walker syndrome | Enrichment | BRAF | 0.97 |
| 263 | Polycystic liver disease | Enrichment | CTNNB1 | 0.97 |
| 264 | Giant cell glioblastoma | Enrichment | NFKBIA | 0.97 |
| 265 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.97 |
| 266 | Heart, malformation of | Enrichment | MAPK1 | 0.94 |
| 267 | Early infantile developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.94 |
| 268 | Arteriovenous malformations of the brain | Enrichment | BRAF | 0.92 |
| 269 | Behcet syndrome | Enrichment | TLR4 | 0.92 |
| 270 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 0.92 |
| 271 | Parkinson's disease | Enrichment | NR4A2 | 0.92 |
| 272 | Hepatoblastoma | Enrichment | CTNNB1 | 0.88 |
| 273 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.86 |
| 274 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.86 |
| 275 | Microphthalmia | Enrichment | TFAP2A | 0.86 |
| 276 | Skin disease | Enrichment | KRT14 | 0.86 |
| 277 | Congenital stationary night blindness | Enrichment | GNB3 | 0.84 |
| 278 | Ovarian cancer | Enrichment | AKT1, CTNNB1 | 0.83 |
| 279 | Parkinson disease, late-onset | Enrichment | NR4A2 | 0.83 |
| 280 | Developmental and epileptic encephalopathy 1 | Enrichment | GNAO1 | 0.81 |
| 281 | Strabismus | Enrichment | GNB1 | 0.78 |
| 282 | Bladder cancer | Enrichment | CTNNB1 | 0.75 |
| 283 | Hirschsprung disease 1 | Enrichment | ECE1 | 0.75 |
| 284 | Differentiated thyroid carcinoma | Enrichment | BRAF | 0.75 |
| 285 | Lung cancer | Enrichment | BRAF | 0.71 |
| 286 | Cystic fibrosis | Enrichment | TGFB1 | 0.71 |
| 287 | Complex neurodevelopmental disorder | Enrichment | GNB2, NR4A2 | 0.69 |
| 288 | Dystonia | Enrichment | GNB1 | 0.68 |
| 289 | Developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.67 |
| 290 | Cerebral palsy | Enrichment | GNB1 | 0.64 |
| 291 | Epilepsy | Enrichment | NR4A2 | 0.63 |
| 292 | West syndrome | Enrichment | GNAO1 | 0.59 |
| 293 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.59 |
| 294 | Hypertelorism | Enrichment | TFAP2A | 0.53 |
| 295 | Myeloma, multiple | Enrichment | BRAF | 0.50 |
| 296 | Primary ovarian insufficiency | Enrichment | NOS3 | 0.48 |
| 297 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.35 |