| 1 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 6.53 |
| 2 | Anastomosing haemangioma | Enrichment | GNA11, GNA14, GNAQ | 6.53 |
| 3 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 5.93 |
| 4 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 5.24 |
| 5 | Lissencephaly | Enrichment | TUBA1A, TUBA3E, TUBB2B, TUBB3 | 4.98 |
| 6 | Phakomatosis cesioflammea | Enrichment | GNA11, GNAQ | 4.35 |
| 7 | Li-fraumeni syndrome | Enrichment | TP53, WRAP53 | 3.94 |
| 8 | Capillary malformations, congenital | Enrichment | GNA11, GNAQ | 3.36 |
| 9 | Melanoma, uveal | Enrichment | GNA11, GNAQ | 3.18 |
| 10 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 3.04 |
| 11 | Diffuse large b-cell lymphoma | Enrichment | STAT3, TP53 | 2.90 |
| 12 | Hepatoblastoma | Enrichment | GBA1, TP53 | 2.81 |
| 13 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 2.81 |
| 14 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBA8, TUBB1 | 2.71 |
| 15 | Cerebral palsy | Enrichment | GNB1, TUBA1A, TUBB4A | 2.65 |
| 16 | Myelodysplastic syndrome | Enrichment | GNB1, TP53 | 2.63 |
| 17 | Periventricular heterotopia with microcephaly, autosomal recessive | Enrichment | ARFGEF2 | 2.55 |
| 18 | Dyskeratosis congenita, autosomal recessive 3 | Enrichment | WRAP53 | 2.55 |
| 19 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.55 |
| 20 | Intellectual developmental disorder with polymicrogyria and seizures | Enrichment | TCP1 | 2.55 |
| 21 | Papilloma of choroid plexus | Enrichment | TP53 | 2.55 |
| 22 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | Enrichment | CCT5 | 2.55 |
| 23 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.55 |
| 24 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.55 |
| 25 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.55 |
| 26 | Autosomal recessive sensory neuropathy with spastic paraplegia | Enrichment | CCT5 | 2.55 |
| 27 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | Enrichment | FBXL3 | 2.55 |
| 28 | Ductal carcinoma in situ | Enrichment | TP53 | 2.55 |
| 29 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.55 |
| 30 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.55 |
| 31 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.55 |
| 32 | Developmental delay, hypotonia, and impaired language | Enrichment | FBXW7 | 2.55 |
| 33 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.55 |
| 34 | Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination | Enrichment | CCT3 | 2.55 |
| 35 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.55 |
| 36 | Choroid plexus cancer | Enrichment | TP53 | 2.55 |
| 37 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.55 |
| 38 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.55 |
| 39 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.25 |
| 40 | Gaucher disease, type iiic | Enrichment | GBA1 | 2.25 |
| 41 | Cervical cancer | Enrichment | TP53 | 2.25 |
| 42 | Gaucher disease, perinatal lethal | Enrichment | GBA1 | 2.25 |
| 43 | Trichohepatoenteric syndrome 2 | Enrichment | SKIC2 | 2.25 |
| 44 | Gaucher disease, type iii | Enrichment | GBA1 | 2.25 |
| 45 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.25 |
| 46 | Congenital fibrosarcoma | Enrichment | TP53 | 2.25 |
| 47 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.25 |
| 48 | Sarcoma | Enrichment | TP53 | 2.25 |
| 49 | Cervix carcinoma | Enrichment | TP53 | 2.25 |
| 50 | Hodgkin's lymphoma | Enrichment | TP53 | 2.25 |
| 51 | Immunodeficiency 57 with autoinflammation | Enrichment | SKIC2 | 2.25 |
| 52 | Buratti-harel syndrome | Enrichment | LONP2 | 2.25 |
| 53 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.25 |
| 54 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.17 |
| 55 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.17 |
| 56 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 2.17 |
| 57 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 2.17 |
| 58 | Sturge-weber syndrome | Enrichment | GNAQ | 2.17 |
| 59 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.17 |
| 60 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 2.17 |
| 61 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.17 |
| 62 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 2.17 |
| 63 | Prolonged electroretinal response suppression 1 | Enrichment | RGS9 | 2.17 |
| 64 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.17 |
| 65 | Becker nevus syndrome | Enrichment | ACTB | 2.17 |
| 66 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.17 |
| 67 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 2.17 |
| 68 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.17 |
| 69 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 2.17 |
| 70 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 2.17 |
| 71 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 2.17 |
| 72 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.17 |
| 73 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 2.17 |
| 74 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 2.17 |
| 75 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.17 |
| 76 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.17 |
| 77 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 2.17 |
| 78 | Baraitser-winter syndrome | Enrichment | ACTB | 2.17 |
| 79 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 2.17 |
| 80 | Congenital myopathy 26 | Enrichment | TUBA4A | 2.17 |
| 81 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 2.17 |
| 82 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 2.17 |
| 83 | Craniodigital syndrome and intellectual disability syndrome | Enrichment | CSNK2B | 2.17 |
| 84 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 2.17 |
| 85 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.17 |
| 86 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.17 |
| 87 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.17 |
| 88 | Kaposiform hemangioendothelioma | Enrichment | GNA14 | 2.17 |
| 89 | Hypoparathyroidism-retardation-dysmorphism syndrome | Enrichment | TBCE | 2.15 |
| 90 | Kenny-caffey syndrome, type 1 | Enrichment | TBCE | 2.15 |
| 91 | Encephalopathy, progressive, with amyotrophy and optic atrophy | Enrichment | TBCE | 2.15 |
| 92 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | Enrichment | TBCE | 2.15 |
| 93 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.08 |
| 94 | Gaucher disease, type ii | Enrichment | GBA1 | 2.08 |
| 95 | Osteogenic sarcoma | Enrichment | TP53 | 2.08 |
| 96 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.08 |
| 97 | Spinocerebellar ataxia 36 | Enrichment | NOP56 | 2.08 |
| 98 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.08 |
| 99 | Hyper ige syndrome | Enrichment | STAT3 | 2.08 |
| 100 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.08 |
| 101 | Anaplastic astrocytoma | Enrichment | TP53 | 2.08 |
| 102 | Squamous cell carcinoma | Enrichment | TP53 | 2.08 |
| 103 | Adenocarcinoma | Enrichment | TP53 | 2.08 |
| 104 | Gaucher's disease | Enrichment | GBA1 | 2.08 |
| 105 | Bone osteosarcoma | Enrichment | TP53 | 2.08 |
| 106 | Trichohepatoenteric syndrome | Enrichment | SKIC2 | 2.08 |
| 107 | Gaucher disease, type i | Enrichment | GBA1 | 1.95 |
| 108 | Small cell cancer of the lung | Enrichment | TP53 | 1.95 |
| 109 | Trichohepatoenteric syndrome 1 | Enrichment | SKIC2 | 1.95 |
| 110 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.95 |
| 111 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.95 |
| 112 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.95 |
| 113 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 1.87 |
| 114 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 1.87 |
| 115 | Angioma, tufted | Enrichment | GNA14 | 1.87 |
| 116 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.87 |
| 117 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 1.87 |
| 118 | Poirier-bienvenu neurodevelopmental syndrome | Enrichment | CSNK2B | 1.87 |
| 119 | Keratoconus 9 | Enrichment | TUBA3D | 1.87 |
| 120 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 1.87 |
| 121 | Lissencephaly 3 | Enrichment | TUBA1A | 1.87 |
| 122 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 1.87 |
| 123 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 1.87 |
| 124 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB | 1.87 |
| 125 | Bradyopsia | Enrichment | RGS9 | 1.87 |
| 126 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.87 |
| 127 | Torsion dystonia 4 | Enrichment | TUBB4A | 1.87 |
| 128 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 1.87 |
| 129 | Cerebral visual impairment | Enrichment | GNB1 | 1.87 |
| 130 | Dementia, lewy body | Enrichment | GBA1 | 1.86 |
| 131 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.86 |
| 132 | Pervasive developmental disorder | Enrichment | FBXW7 | 1.86 |
| 133 | Lymphoma | Enrichment | TP53 | 1.86 |
| 134 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.86 |
| 135 | Dementia | Enrichment | GBA1 | 1.86 |
| 136 | Rare pervasive developmental disorder | Enrichment | FBXW7 | 1.86 |
| 137 | Muscular dystrophy-dystroglycanopathy , type a, 11 | Enrichment | TBCE | 1.85 |
| 138 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | Enrichment | TBCD | 1.85 |
| 139 | Seborrhea-like dermatitis with psoriasiform elements | Enrichment | TBCD | 1.85 |
| 140 | Congenital muscular dystrophy-dystroglycanopathy type a11 | Enrichment | TBCE | 1.85 |
| 141 | Adrenocortical carcinoma | Enrichment | TP53 | 1.78 |
| 142 | Breast adenocarcinoma | Enrichment | TP53 | 1.78 |
| 143 | Esophageal cancer | Enrichment | TP53 | 1.71 |
| 144 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.71 |
| 145 | Parkinsonism | Enrichment | GBA1 | 1.71 |
| 146 | Essential thrombocythemia | Enrichment | TP53 | 1.71 |
| 147 | Gallbladder cancer | Enrichment | TP53 | 1.71 |
| 148 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.71 |
| 149 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 1.70 |
| 150 | Prognathism, mandibular | Enrichment | CSNK2B | 1.70 |
| 151 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 1.70 |
| 152 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11 | 1.70 |
| 153 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 1.70 |
| 154 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | Enrichment | ARL2 | 1.67 |
| 155 | Glioma susceptibility 1 | Enrichment | TP53 | 1.65 |
| 156 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.65 |
| 157 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.65 |
| 158 | Isolated split hand-split foot malformation | Enrichment | FBXW4 | 1.65 |
| 159 | Colorectal cancer | Enrichment | FBXW7, TP53 | 1.61 |
| 160 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.60 |
| 161 | Primary hyperaldosteronism | Enrichment | TP53 | 1.60 |
| 162 | Leber plus disease | Enrichment | CCT2, RGS9, TUBB4B | 1.59 |
| 163 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.58 |
| 164 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.58 |
| 165 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.58 |
| 166 | Enophthalmos | Enrichment | CSNK2B | 1.58 |
| 167 | Syndactyly | Enrichment | CSNK2B | 1.58 |
| 168 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.58 |
| 169 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.58 |
| 170 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.56 |
| 171 | Familial colorectal cancer | Enrichment | TP53 | 1.56 |
| 172 | Movement disease | Enrichment | GBA1 | 1.52 |
| 173 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.48 |
| 174 | Congenital nervous system abnormality | Enrichment | GNB5, TUBA1A, TUBB4A | 1.46 |
| 175 | Nervous system disease | Enrichment | GNB5, TUBA1A, TUBB4A | 1.46 |
| 176 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.45 |
| 177 | Autism spectrum disorder | Enrichment | CSNK2A1, CSNK2B, GNB1 | 1.43 |
| 178 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.41 |
| 179 | Periventricular nodular heterotopia | Enrichment | ARFGEF2 | 1.41 |
| 180 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ | 1.40 |
| 181 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 1.40 |
| 182 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 1.40 |
| 183 | Thrombocytopenia | Enrichment | GBA1, TUBB1 | 1.39 |
| 184 | Hydrocephalus | Enrichment | ARFGEF2 | 1.38 |
| 185 | Hypertension | Enrichment | GBA1 | 1.36 |
| 186 | Rhabdomyosarcoma | Enrichment | TP53 | 1.36 |
| 187 | Gliosarcoma | Enrichment | TP53 | 1.36 |
| 188 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CSNK2B, GNB1 | 1.35 |
| 189 | Giant cell glioblastoma | Enrichment | TP53 | 1.33 |
| 190 | Microcephaly | Enrichment | ACTB, GNB1, TUBB4A | 1.30 |
| 191 | Parkinson's disease | Enrichment | GBA1 | 1.28 |
| 192 | Dyskeratosis congenita | Enrichment | WRAP53 | 1.28 |
| 193 | Cryptorchidism | Enrichment | TUBA1A | 1.28 |
| 194 | Hypothyroidism | Enrichment | GNB1 | 1.28 |
| 195 | Inherited cancer-predisposing syndrome | Enrichment | TP53, WRAP53 | 1.28 |
| 196 | Difference of sex development | Enrichment | TBCE | 1.25 |
| 197 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 1.23 |
| 198 | Hepatocellular carcinoma | Enrichment | TP53 | 1.22 |
| 199 | Myocardial infarction | Enrichment | CCT7 | 1.22 |
| 200 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.20 |
| 201 | Parkinson disease, late-onset | Enrichment | GBA1 | 1.19 |
| 202 | Pancreatic cancer | Enrichment | TP53 | 1.17 |
| 203 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.15 |
| 204 | Congenital hypothyroidism | Enrichment | TUBB1 | 1.11 |
| 205 | Bladder cancer | Enrichment | TP53 | 1.11 |
| 206 | Prostate cancer | Enrichment | TP53 | 1.11 |
| 207 | Breast cancer | Enrichment | GNG3, TP53 | 1.04 |
| 208 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 1.02 |
| 209 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 1.02 |
| 210 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 1.02 |
| 211 | Diamond-blackfan anemia | Enrichment | TP53 | 1.02 |
| 212 | Isolated congenital microcephaly | Enrichment | TUBA3E | 0.99 |
| 213 | Leukemia, acute myeloid | Enrichment | TP53 | 0.97 |
| 214 | Hypertension, essential | Enrichment | GNB3 | 0.97 |
| 215 | Cleft palate, isolated | Enrichment | GNB1 | 0.97 |
| 216 | Dandy-walker syndrome | Enrichment | TUBA1A | 0.97 |
| 217 | Gastric cancer | Enrichment | TP53 | 0.94 |
| 218 | Hereditary breast carcinoma | Enrichment | TP53 | 0.93 |
| 219 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.86 |
| 220 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.84 |
| 221 | Congenital stationary night blindness | Enrichment | GNB3 | 0.84 |
| 222 | Myeloma, multiple | Enrichment | TP53 | 0.84 |
| 223 | Auditory neuropathy | Enrichment | TUBB4A | 0.79 |
| 224 | Strabismus | Enrichment | GNB1 | 0.78 |
| 225 | Complex neurodevelopmental disorder | Enrichment | CSNK2A1, GNB2 | 0.69 |
| 226 | Dystonia | Enrichment | GNB1 | 0.68 |
| 227 | Fetal akinesia deformation sequence 1 | Enrichment | TUBA1A | 0.66 |
| 228 | Ovarian cancer | Enrichment | TP53 | 0.61 |
| 229 | Optic atrophy plus syndrome | Enrichment | TUBB6 | 0.59 |
| 230 | West syndrome | Enrichment | TUBA1A | 0.59 |
| 231 | Spastic ataxia | Enrichment | TUBB3 | 0.52 |
| 232 | Hereditary retinal dystrophy | Enrichment | RGS9 | 0.07 |
| 233 | Fundus dystrophy | Enrichment | RGS9 | 0.07 |