| 1 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1, IGF2, MET, RET, SRC | 7.68 |
| 2 | Congenital central hypoventilation syndrome | Enrichment | BDNF, GDNF, RET | 5.46 |
| 3 | Renal agenesis, bilateral | Enrichment | GFRA1, RET, ROBO1 | 5.46 |
| 4 | Lip and oral cavity carcinoma | Enrichment | ABL1, EGFR, HRAS | 5.05 |
| 5 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 4.91 |
| 6 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 4.91 |
| 7 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, DSP, JUP | 4.83 |
| 8 | Ovarian cancer | Enrichment | CDH1, CTNNB1, EGFR, MET, RET | 4.56 |
| 9 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP, JUP | 4.44 |
| 10 | Hepatocellular carcinoma | Enrichment | CTNNB1, MET, RET | 4.21 |
| 11 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 4.14 |
| 12 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1, EGFR, MET, RET | 4.00 |
| 13 | Bladder cancer | Enrichment | CTNNB1, EGFR, HRAS | 3.85 |
| 14 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 3.74 |
| 15 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, EGF | 3.36 |
| 16 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS | 3.18 |
| 17 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | DSP, JUP | 3.10 |
| 18 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | DSP, JUP | 3.10 |
| 19 | Heart disease | Enrichment | ABL1, CREBBP | 2.96 |
| 20 | Corpus callosum, agenesis of | Enrichment | CDH2, CREBBP | 2.90 |
| 21 | Isolated corpus callosum agenesis | Enrichment | CDH2, CREBBP | 2.90 |
| 22 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2, CREBBP | 2.90 |
| 23 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DSP, JUP | 2.85 |
| 24 | Arteriovenous malformations of the brain | Enrichment | CDH2, EGFR | 2.70 |
| 25 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 2.45 |
| 26 | Nystagmus 8, congenital, autosomal recessive | Enrichment | ROBO1 | 2.45 |
| 27 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.45 |
| 28 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.45 |
| 29 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.45 |
| 30 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.45 |
| 31 | Naxos disease | Enrichment | JUP | 2.45 |
| 32 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 2.45 |
| 33 | Charcot-marie-tooth disease, axonal, type 2b | Enrichment | RAB7A | 2.45 |
| 34 | Charcot-marie-tooth disease type 2b | Enrichment | RAB7A | 2.45 |
| 35 | Osteofibrous dysplasia | Enrichment | MET | 2.45 |
| 36 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.45 |
| 37 | Renal hypodysplasia/aplasia 4 | Enrichment | GFRA1 | 2.45 |
| 38 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.45 |
| 39 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.45 |
| 40 | Autism 9 | Enrichment | MET | 2.45 |
| 41 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.45 |
| 42 | Coronary heart disease 6 | Enrichment | MMP3 | 2.45 |
| 43 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.45 |
| 44 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.45 |
| 45 | Hirschsprung disease 3 | Enrichment | GDNF | 2.45 |
| 46 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 2.45 |
| 47 | Thrombocytopenia 6 | Enrichment | SRC | 2.45 |
| 48 | Autosomal recessive congenital nystagmus | Enrichment | ROBO1 | 2.45 |
| 49 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.45 |
| 50 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.45 |
| 51 | Pituitary hormone deficiency, combined or isolated, 8 | Enrichment | ROBO1 | 2.45 |
| 52 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.45 |
| 53 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.45 |
| 54 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.45 |
| 55 | Neurooculorenal syndrome | Enrichment | ROBO1 | 2.45 |
| 56 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.45 |
| 57 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.45 |
| 58 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.45 |
| 59 | Breast lobular carcinoma | Enrichment | CDH1 | 2.45 |
| 60 | Thyroid cancer | Enrichment | RET | 2.45 |
| 61 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.45 |
| 62 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.45 |
| 63 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.45 |
| 64 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.45 |
| 65 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.45 |
| 66 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.45 |
| 67 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.45 |
| 68 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.45 |
| 69 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.45 |
| 70 | Gastrointestinal system disease | Enrichment | RET | 2.45 |
| 71 | Congenital nystagmus | Enrichment | ROBO1 | 2.45 |
| 72 | Multiple endocrine neoplasia | Enrichment | RET | 2.45 |
| 73 | Tetralogy of fallot | Enrichment | RET, ROBO1 | 2.42 |
| 74 | Hirschsprung disease 1 | Enrichment | GDNF, RET | 2.33 |
| 75 | Differentiated thyroid carcinoma | Enrichment | HRAS, RET | 2.33 |
| 76 | Lung cancer | Enrichment | EGFR, MET | 2.25 |
| 77 | Costello syndrome | Enrichment | HRAS | 2.15 |
| 78 | Thumb deformity | Enrichment | CREBBP | 2.15 |
| 79 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.15 |
| 80 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 2.15 |
| 81 | Silver-russell syndrome 3 | Enrichment | IGF2 | 2.15 |
| 82 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 2.15 |
| 83 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 2.15 |
| 84 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.15 |
| 85 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.15 |
| 86 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.15 |
| 87 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.15 |
| 88 | Progressive familial heart block | Enrichment | DSP | 2.15 |
| 89 | Papillary renal cell carcinoma | Enrichment | MET | 2.15 |
| 90 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 2.15 |
| 91 | Medullary thyroid carcinoma | Enrichment | RET | 2.15 |
| 92 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.15 |
| 93 | Teratoma | Enrichment | CTNNB1 | 2.15 |
| 94 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 2.15 |
| 95 | Wooly hair nevus | Enrichment | HRAS | 2.15 |
| 96 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 2.15 |
| 97 | Microcephaly | Enrichment | ABL1, CTNNB1, IGF1R | 2.03 |
| 98 | Hereditary breast carcinoma | Enrichment | CDH1, RET | 1.98 |
| 99 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.98 |
| 100 | Thyroid carcinoma, familial medullary | Enrichment | RET | 1.98 |
| 101 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.98 |
| 102 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.98 |
| 103 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 1.98 |
| 104 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.98 |
| 105 | Anus, imperforate | Enrichment | CTNNB1 | 1.98 |
| 106 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.98 |
| 107 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.98 |
| 108 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.98 |
| 109 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.98 |
| 110 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.98 |
| 111 | Desmoid tumor | Enrichment | CTNNB1 | 1.98 |
| 112 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.98 |
| 113 | Gingival overgrowth | Enrichment | RET | 1.98 |
| 114 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.98 |
| 115 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.98 |
| 116 | Spermatocytoma | Enrichment | HRAS | 1.98 |
| 117 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.98 |
| 118 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.98 |
| 119 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.98 |
| 120 | Renal cell carcinoma | Enrichment | MET | 1.98 |
| 121 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.98 |
| 122 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.85 |
| 123 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.85 |
| 124 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.85 |
| 125 | Amyotrophy, monomelic | Enrichment | SLIT1 | 1.85 |
| 126 | Pilomatrixoma | Enrichment | CTNNB1 | 1.85 |
| 127 | Alazami syndrome | Enrichment | CTNNB1 | 1.85 |
| 128 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 1.85 |
| 129 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.85 |
| 130 | Craniopharyngioma | Enrichment | CTNNB1 | 1.85 |
| 131 | Epidermolytic nevus | Enrichment | HRAS | 1.85 |
| 132 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 1.85 |
| 133 | Haddad syndrome | Enrichment | RET | 1.85 |
| 134 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.76 |
| 135 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 1.76 |
| 136 | Insulin-like growth factor i | Enrichment | IGF1R | 1.76 |
| 137 | Cardiac arrest | Enrichment | DSP | 1.76 |
| 138 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.68 |
| 139 | Cowden syndrome 1 | Enrichment | EGFR | 1.68 |
| 140 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.68 |
| 141 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP | 1.68 |
| 142 | Hemihyperplasia, isolated | Enrichment | IGF2 | 1.68 |
| 143 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 1.68 |
| 144 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP | 1.68 |
| 145 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.68 |
| 146 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.68 |
| 147 | Hypertrichosis | Enrichment | CREBBP | 1.68 |
| 148 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP | 1.68 |
| 149 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 1.68 |
| 150 | Nevus, epidermal | Enrichment | HRAS | 1.61 |
| 151 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.61 |
| 152 | Silver-russell syndrome 1 | Enrichment | IGF2 | 1.61 |
| 153 | Myelofibrosis | Enrichment | SRC | 1.61 |
| 154 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.61 |
| 155 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.61 |
| 156 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.61 |
| 157 | Noonan syndrome 3 | Enrichment | HRAS | 1.61 |
| 158 | Gallbladder cancer | Enrichment | CTNNB1 | 1.61 |
| 159 | Pilomyxoid astrocytoma | Enrichment | NTRK2 | 1.61 |
| 160 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.61 |
| 161 | Moyamoya angiopathy | Enrichment | ABL1 | 1.61 |
| 162 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.61 |
| 163 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.55 |
| 164 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS | 1.55 |
| 165 | Renal hypodysplasia/aplasia 1 | Enrichment | RET | 1.55 |
| 166 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.55 |
| 167 | Hypothyroidism | Enrichment | RET | 1.55 |
| 168 | Myocarditis | Enrichment | DSP | 1.55 |
| 169 | Breast cancer | Enrichment | CDH1, RET | 1.54 |
| 170 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP | 1.50 |
| 171 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.50 |
| 172 | Arteriovenous malformation | Enrichment | HRAS | 1.50 |
| 173 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP | 1.50 |
| 174 | Dilated cardiomyopathy | Enrichment | DSP, JUP | 1.49 |
| 175 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS | 1.46 |
| 176 | Cardiac conduction defect | Enrichment | DSP | 1.38 |
| 177 | Renal hypodysplasia/aplasia 3 | Enrichment | RET | 1.38 |
| 178 | Aortic valve disease 1 | Enrichment | DSP | 1.35 |
| 179 | Nk-cell enteropathy | Enrichment | IGF1R | 1.35 |
| 180 | Osteoporosis | Enrichment | SRC | 1.31 |
| 181 | Medulloblastoma | Enrichment | CTNNB1 | 1.31 |
| 182 | Pheochromocytoma | Enrichment | RET | 1.31 |
| 183 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.31 |
| 184 | Cleft lip/palate | Enrichment | CDH1 | 1.31 |
| 185 | Pituitary stalk interruption syndrome | Enrichment | ROBO1 | 1.31 |
| 186 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.29 |
| 187 | Wilms tumor 1 | Enrichment | IGF2 | 1.29 |
| 188 | Rare genetic intellectual disability | Enrichment | CREBBP | 1.29 |
| 189 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS | 1.29 |
| 190 | Congenital nervous system abnormality | Enrichment | CREBBP, CTNNB1 | 1.27 |
| 191 | Nervous system disease | Enrichment | CREBBP, CTNNB1 | 1.27 |
| 192 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.26 |
| 193 | Rhabdomyosarcoma | Enrichment | HRAS | 1.26 |
| 194 | Gliosarcoma | Enrichment | EGFR | 1.26 |
| 195 | Interstitial lung disease 2 | Enrichment | DSP | 1.23 |
| 196 | Polycystic liver disease | Enrichment | CTNNB1 | 1.23 |
| 197 | Giant cell glioblastoma | Enrichment | EGFR | 1.23 |
| 198 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.23 |
| 199 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 1.21 |
| 200 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 1.19 |
| 201 | Macs syndrome | Enrichment | RIN2 | 1.16 |
| 202 | Craniosynostosis | Enrichment | CTNNA1 | 1.16 |
| 203 | Cardiomyopathy, dilated, 1a | Enrichment | DSP | 1.14 |
| 204 | Endometrial cancer | Enrichment | CDH1 | 1.14 |
| 205 | Centronuclear myopathy | Enrichment | DNM2 | 1.14 |
| 206 | Hepatoblastoma | Enrichment | CTNNB1 | 1.14 |
| 207 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.14 |
| 208 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 1.12 |
| 209 | Noonan syndrome 1 | Enrichment | HRAS | 1.11 |
| 210 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.11 |
| 211 | Scoliosis | Enrichment | CREBBP | 1.09 |
| 212 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.05 |
| 213 | Rasopathy | Enrichment | HRAS | 1.05 |
| 214 | Auditory neuropathy | Enrichment | CDH2 | 1.05 |
| 215 | Prostate cancer | Enrichment | CDH1 | 1.01 |
| 216 | Long qt syndrome 1 | Enrichment | DSP | 1.00 |
| 217 | Long qt syndrome | Enrichment | DSP | 0.98 |
| 218 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.98 |
| 219 | Cakut | Enrichment | ROBO1 | 0.94 |
| 220 | Left ventricular noncompaction | Enrichment | DSP | 0.93 |
| 221 | Myopathy | Enrichment | DNM2 | 0.88 |
| 222 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.87 |
| 223 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 0.86 |
| 224 | Gastric cancer | Enrichment | CDH1 | 0.85 |
| 225 | West syndrome | Enrichment | NTRK2 | 0.84 |
| 226 | Sensorineural hearing loss | Enrichment | RET | 0.80 |
| 227 | Thrombocytopenia | Enrichment | SRC | 0.80 |
| 228 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.79 |
| 229 | Hypertelorism | Enrichment | RET | 0.77 |
| 230 | Familial isolated dilated cardiomyopathy | Enrichment | DSP | 0.77 |
| 231 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.75 |
| 232 | Myeloma, multiple | Enrichment | CREBBP | 0.74 |
| 233 | Undetermined early-onset epileptic encephalopathy | Enrichment | NTRK2 | 0.74 |
| 234 | Autism | Enrichment | CREBBP | 0.65 |
| 235 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.57 |
| 236 | Complex neurodevelopmental disorder | Enrichment | TIAM1 | 0.45 |
| 237 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.19 |
| 238 | Fundus dystrophy | Enrichment | CTNNA1 | 0.19 |