| 1 | Colorectal cancer | Enrichment | AKT1, APC, AXIN2, BAX, BRAF, CCND1, CDH1, CTNNB1, DCC, FZD3, MLH1, MSH2, MSH6, PIK3R1, SMAD4, SRC, TLR2, TP53 | 10.93 |
| 2 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 9.57 |
| 3 | Gallbladder cancer | Enrichment | BRAF, CTNNB1, KRAS, SMAD4, TP53 | 8.29 |
| 4 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 7.67 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 7.67 |
| 6 | Gastric cancer | Enrichment | APC, CDH1, KRAS, MLH1, MSH2, MSH6, SMAD4, TP53 | 7.39 |
| 7 | Hereditary breast carcinoma | Enrichment | AKT1, APC, CDH1, KRAS, MLH1, MSH2, MSH6, TP53 | 7.31 |
| 8 | Noonan syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, SOS1, SOS2 | 6.60 |
| 9 | Breast cancer | Enrichment | AKT1, APC, CDH1, GNG3, KRAS, MLH1, MSH2, MSH6, TP53 | 6.53 |
| 10 | Ovarian cancer | Enrichment | AKT1, APC, AXIN2, CDH1, CTNNB1, EGFR, KRAS, MSH2, MSH6, TP53 | 6.40 |
| 11 | Rasopathy | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, SOS1, SOS2 | 6.25 |
| 12 | Inherited cancer-predisposing syndrome | Enrichment | APC, AXIN2, CDH1, EGFR, MLH1, MSH2, MSH3, MSH6, PRKAR1A, SMAD4, TP53 | 6.22 |
| 13 | Lynch syndrome | Enrichment | KRAS, MLH1, MSH2, MSH6, TGFBR2 | 6.17 |
| 14 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2, SOS1 | 6.17 |
| 15 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | 6.04 |
| 16 | Loeys-dietz syndrome 1 | Enrichment | SMAD2, TGFBR1, TGFBR2 | 5.75 |
| 17 | Endometrial cancer | Enrichment | CDH1, MLH1, MSH2, MSH3, MSH6 | 5.36 |
| 18 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, KRAS, MAP2K1 | 5.19 |
| 19 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, FZD2, WNT5A | 5.15 |
| 20 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2, MSH6 | 5.15 |
| 21 | Craniopharyngioma | Enrichment | APC, BRAF, CTNNB1 | 5.15 |
| 22 | Autosomal dominant robinow syndrome | Enrichment | DVL1, FZD2, WNT5A | 5.15 |
| 23 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4, LRP5 | 4.76 |
| 24 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, FZD2, WNT5A | 4.76 |
| 25 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, KRAS, TP53 | 4.72 |
| 26 | Bladder cancer | Enrichment | CDKN1A, CTNNB1, EGFR, KRAS, TP53 | 4.63 |
| 27 | Autosomal recessive robinow syndrome | Enrichment | DVL1, FZD2, WNT5A | 4.46 |
| 28 | Adrenocortical carcinoma | Enrichment | CTNNB1, PRKAR1A, TP53 | 4.46 |
| 29 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, TP53 | 4.46 |
| 30 | Myeloma, multiple | Enrichment | BRAF, CCND1, KRAS, PIK3R2, TCF3, TP53 | 4.24 |
| 31 | Esophageal cancer | Enrichment | DCC, TGFBR2, TP53 | 4.22 |
| 32 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, IL6, KRAS | 4.15 |
| 33 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4, LRP5 | 4.02 |
| 34 | Hepatoblastoma | Enrichment | APC, CTNNB1, MSH2, TP53 | 3.97 |
| 35 | Tooth agenesis | Enrichment | AXIN2, LRP6, WNT10A, WNT10B | 3.89 |
| 36 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, EGF, TP53 | 3.85 |
| 37 | Primary hyperaldosteronism | Enrichment | BRAF, GNAS, TP53 | 3.85 |
| 38 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 3.83 |
| 39 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 3.83 |
| 40 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 3.83 |
| 41 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS, PRKAR1A | 3.83 |
| 42 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 3.83 |
| 43 | Lynch syndrome 1 | Enrichment | MLH1, MSH2, MSH6 | 3.70 |
| 44 | Marfan syndrome | Enrichment | TGFB2, TGFBR1, TGFBR2 | 3.70 |
| 45 | Familial colorectal cancer | Enrichment | MLH1, MSH2, TP53 | 3.70 |
| 46 | Lip and oral cavity carcinoma | Enrichment | BRAF, EGFR, TP53 | 3.45 |
| 47 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 3.36 |
| 48 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14, MMP2 | 3.36 |
| 49 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 3.36 |
| 50 | Osteoporosis, juvenile | Enrichment | WNT1, WNT3A | 3.36 |
| 51 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 3.36 |
| 52 | Desmoid tumor | Enrichment | APC, CTNNB1 | 3.36 |
| 53 | Colon adenocarcinoma | Enrichment | APC, MSH6 | 3.36 |
| 54 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, MLH1, MSH2, MSH6, TP53 | 3.27 |
| 55 | Lung cancer | Enrichment | BRAF, EGFR, KRAS, MLH1 | 3.24 |
| 56 | Osteoporosis | Enrichment | LRP5, SRC, WNT1 | 3.23 |
| 57 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, KRAS | 3.06 |
| 58 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 3.06 |
| 59 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2, PIK3R2 | 3.06 |
| 60 | Lynch syndrome 4 | Enrichment | MSH2, MSH6 | 3.06 |
| 61 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 3.06 |
| 62 | Retinopathy of prematurity | Enrichment | FZD4, LRP5 | 3.06 |
| 63 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 3.06 |
| 64 | Rhabdomyosarcoma | Enrichment | MSH2, MSH6, TP53 | 3.06 |
| 65 | Gliosarcoma | Enrichment | EGFR, MSH2, TP53 | 3.06 |
| 66 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 2.97 |
| 67 | Giant cell glioblastoma | Enrichment | EGFR, MSH2, TP53 | 2.97 |
| 68 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 2.97 |
| 69 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, FZD2 | 2.84 |
| 70 | Behcet syndrome | Enrichment | IFNGR1, TLR4, TNFRSF1A | 2.83 |
| 71 | Diffuse large b-cell lymphoma | Enrichment | BRAF, STAT3, TP53 | 2.83 |
| 72 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFB2, TGFBR2 | 2.83 |
| 73 | Lung squamous cell carcinoma | Enrichment | EGFR, KRAS | 2.67 |
| 74 | Hepatocellular carcinoma | Enrichment | APC, CTNNB1, TP53 | 2.64 |
| 75 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, TP53 | 2.53 |
| 76 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 2.53 |
| 77 | Noonan syndrome 3 | Enrichment | KRAS, SOS1 | 2.53 |
| 78 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS | 2.53 |
| 79 | Pancreatic cancer | Enrichment | KRAS, SMAD4, TP53 | 2.48 |
| 80 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS, TCF4 | 2.41 |
| 81 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 2.41 |
| 82 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 2.30 |
| 83 | Colonic benign neoplasm | Enrichment | APC, MLH1 | 2.30 |
| 84 | Prostate cancer | Enrichment | CDH1, MSH6, TP53 | 2.29 |
| 85 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.21 |
| 86 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1, TCF3 | 2.21 |
| 87 | Myelodysplastic syndrome | Enrichment | GNB1, TP53 | 2.12 |
| 88 | Uterine corpus cancer | Enrichment | MSH2, MSH6 | 2.12 |
| 89 | Acute promyelocytic leukemia | Enrichment | PRKAR1A, STAT3 | 1.98 |
| 90 | Medulloblastoma | Enrichment | APC, CTNNB1 | 1.92 |
| 91 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 1.91 |
| 92 | Proteus syndrome | Enrichment | AKT1 | 1.91 |
| 93 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 1.91 |
| 94 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 1.91 |
| 95 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 1.91 |
| 96 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 1.91 |
| 97 | Leprosy 3 | Enrichment | TLR2 | 1.91 |
| 98 | Oculoectodermal syndrome | Enrichment | KRAS | 1.91 |
| 99 | Helicobacter pylori infection | Enrichment | IFNGR1 | 1.91 |
| 100 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 1.91 |
| 101 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 1.91 |
| 102 | Legionnaire disease | Enrichment | TLR5 | 1.91 |
| 103 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 1.91 |
| 104 | Hypomagnesemia 4, renal | Enrichment | EGF | 1.91 |
| 105 | Noonan syndrome 4 | Enrichment | SOS1 | 1.91 |
| 106 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 1.91 |
| 107 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 1.91 |
| 108 | Carney complex, type 1 | Enrichment | PRKAR1A | 1.91 |
| 109 | Melorheostosis, isolated | Enrichment | MAP2K1 | 1.91 |
| 110 | Osseous heteroplasia, progressive | Enrichment | GNAS | 1.91 |
| 111 | Omodysplasia 2 | Enrichment | FZD2 | 1.91 |
| 112 | Noonan syndrome 7 | Enrichment | BRAF | 1.91 |
| 113 | Leopard syndrome 3 | Enrichment | BRAF | 1.91 |
| 114 | Immunodeficiency 83 viral infections | Enrichment | TLR3 | 1.91 |
| 115 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 1.91 |
| 116 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 1.91 |
| 117 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 1.91 |
| 118 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 1.91 |
| 119 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 1.91 |
| 120 | Noonan syndrome 9 | Enrichment | SOS2 | 1.91 |
| 121 | Dyskinesia with orofacial involvement, autosomal dominant | Enrichment | ADCY5 | 1.91 |
| 122 | Leprosy 5 | Enrichment | TLR1 | 1.91 |
| 123 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 1.91 |
| 124 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 1.91 |
| 125 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 1.91 |
| 126 | Immunodeficiency 27a | Enrichment | IFNGR1 | 1.91 |
| 127 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 1.91 |
| 128 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 1.91 |
| 129 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 1.91 |
| 130 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 1.91 |
| 131 | Immunodeficiency 69 | Enrichment | IFNG | 1.91 |
| 132 | Noonan syndrome 13 | Enrichment | MAPK1 | 1.91 |
| 133 | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Enrichment | ADCY5 | 1.91 |
| 134 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 1.91 |
| 135 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 1.91 |
| 136 | Short syndrome | Enrichment | PIK3R1 | 1.91 |
| 137 | Immunodeficiency 74, covid19-related, x-linked | Enrichment | TLR7 | 1.91 |
| 138 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 1.91 |
| 139 | Winchester syndrome | Enrichment | MMP14 | 1.91 |
| 140 | Systemic lupus erythematosus 1 | Enrichment | TLR5 | 1.91 |
| 141 | Diarrhea 9 | Enrichment | WNT2B | 1.91 |
| 142 | X-linked immunodeficiency 74 | Enrichment | TLR7 | 1.91 |
| 143 | Papilloma of choroid plexus | Enrichment | TP53 | 1.91 |
| 144 | Basal cell carcinoma 7 | Enrichment | TP53 | 1.91 |
| 145 | Lynch syndrome 2 | Enrichment | MLH1 | 1.91 |
| 146 | Systemic lupus erythematosus 17 | Enrichment | TLR7 | 1.91 |
| 147 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 1.91 |
| 148 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 1.91 |
| 149 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 1.91 |
| 150 | Myxoma, intracardiac | Enrichment | PRKAR1A | 1.91 |
| 151 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 1.91 |
| 152 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 1.91 |
| 153 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 1.91 |
| 154 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 1.91 |
| 155 | Dyskinesia with orofacial involvement, autosomal recessive | Enrichment | ADCY5 | 1.91 |
| 156 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 1.91 |
| 157 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 1.91 |
| 158 | Lymphangioma | Enrichment | BRAF | 1.91 |
| 159 | Immunodeficiency 27b | Enrichment | IFNGR1 | 1.91 |
| 160 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 1.91 |
| 161 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 1.91 |
| 162 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 1.91 |
| 163 | Phace association | Enrichment | BRAF | 1.91 |
| 164 | Santos syndrome | Enrichment | WNT7A | 1.91 |
| 165 | Melorheostosis | Enrichment | MAP2K1 | 1.91 |
| 166 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 1.91 |
| 167 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 1.91 |
| 168 | Immunodeficiency 31a | Enrichment | STAT1 | 1.91 |
| 169 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 1.91 |
| 170 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 1.91 |
| 171 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 1.91 |
| 172 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 1.91 |
| 173 | Cowden syndrome 6 | Enrichment | AKT1 | 1.91 |
| 174 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 1.91 |
| 175 | Melioidosis | Enrichment | TLR5 | 1.91 |
| 176 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 1.91 |
| 177 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 1.91 |
| 178 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 1.91 |
| 179 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 1.91 |
| 180 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 1.91 |
| 181 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 1.91 |
| 182 | Immunodeficiency 31b | Enrichment | STAT1 | 1.91 |
| 183 | Disorders of gnas inactivation | Enrichment | GNAS | 1.91 |
| 184 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 1.91 |
| 185 | Ductal carcinoma in situ | Enrichment | TP53 | 1.91 |
| 186 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 1.91 |
| 187 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 1.91 |
| 188 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 1.91 |
| 189 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 1.91 |
| 190 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 1.91 |
| 191 | Thrombocytopenia 6 | Enrichment | SRC | 1.91 |
| 192 | Maturity-onset diabetes of the young, type 14 | Enrichment | APPL1 | 1.91 |
| 193 | Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development | Enrichment | DCC | 1.91 |
| 194 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 1.91 |
| 195 | Sick sinus syndrome 4 | Enrichment | GNB2 | 1.91 |
| 196 | Rectal benign neoplasm | Enrichment | MSH2 | 1.91 |
| 197 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 1.91 |
| 198 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 1.91 |
| 199 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 1.91 |
| 200 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 1.91 |
| 201 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 1.91 |
| 202 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 1.91 |
| 203 | Ascending colon cancer | Enrichment | MSH2 | 1.91 |
| 204 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 1.91 |
| 205 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 1.91 |
| 206 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 1.91 |
| 207 | Breast lobular carcinoma | Enrichment | CDH1 | 1.91 |
| 208 | Congenital pulmonary airway malformation | Enrichment | KRAS | 1.91 |
| 209 | Choroid plexus cancer | Enrichment | TP53 | 1.91 |
| 210 | Ovarian cyst | Enrichment | MSH2 | 1.91 |
| 211 | Familial adenomatous polyposis | Enrichment | APC | 1.91 |
| 212 | Syringocystadenoma papilliferum | Enrichment | BRAF | 1.91 |
| 213 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 1.91 |
| 214 | Ganglioglioma | Enrichment | BRAF | 1.91 |
| 215 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 1.91 |
| 216 | Monostotic fibrous dysplasia | Enrichment | GNAS | 1.91 |
| 217 | Phace syndrome | Enrichment | BRAF | 1.91 |
| 218 | Gardner syndrome | Enrichment | APC | 1.91 |
| 219 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 1.91 |
| 220 | 5q22 microdeletion syndrome | Enrichment | APC | 1.91 |
| 221 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency | Enrichment | IFNGR2 | 1.91 |
| 222 | Attenuated familial adenomatous polyposis | Enrichment | APC | 1.91 |
| 223 | Classic hairy cell leukemia | Enrichment | BRAF | 1.91 |
| 224 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 1.91 |
| 225 | Mazabraud syndrome | Enrichment | GNAS | 1.91 |
| 226 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 1.91 |
| 227 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 1.91 |
| 228 | Microcystic stromal tumor | Enrichment | CTNNB1 | 1.91 |
| 229 | Human immunodeficiency virus type 1 | Enrichment | IFNG, TLR3 | 1.70 |
| 230 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.62 |
| 231 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.62 |
| 232 | Burkitt lymphoma | Enrichment | MYC | 1.62 |
| 233 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.62 |
| 234 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.62 |
| 235 | Myhre syndrome | Enrichment | SMAD4 | 1.62 |
| 236 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 1.62 |
| 237 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.62 |
| 238 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.62 |
| 239 | Van buchem disease | Enrichment | LRP5 | 1.62 |
| 240 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 1.62 |
| 241 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 1.62 |
| 242 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 1.62 |
| 243 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.62 |
| 244 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.62 |
| 245 | Cervical cancer | Enrichment | TP53 | 1.62 |
| 246 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 1.62 |
| 247 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 1.62 |
| 248 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.62 |
| 249 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.62 |
| 250 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.62 |
| 251 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 1.62 |
| 252 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.62 |
| 253 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.62 |
| 254 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 1.62 |
| 255 | Lethal congenital contracture syndrome 8 | Enrichment | ADCY6 | 1.62 |
| 256 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.62 |
| 257 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 1.62 |
| 258 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.62 |
| 259 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 1.62 |
| 260 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.62 |
| 261 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.62 |
| 262 | Oguchi disease 2 | Enrichment | GRK1 | 1.62 |
| 263 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.62 |
| 264 | Immunodeficiency 31c | Enrichment | STAT1 | 1.62 |
| 265 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 1.62 |
| 266 | Usher syndrome, type iv | Enrichment | PRKAR1A | 1.62 |
| 267 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.62 |
| 268 | Immunodeficiency 127 | Enrichment | TNF | 1.62 |
| 269 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.62 |
| 270 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.62 |
| 271 | Split hand-foot malformation | Enrichment | LEF1 | 1.62 |
| 272 | Leprosy 1 | Enrichment | TLR6 | 1.62 |
| 273 | Acrodysostosis | Enrichment | PRKAR1A | 1.62 |
| 274 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.62 |
| 275 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.62 |
| 276 | Congenital fibrosarcoma | Enrichment | TP53 | 1.62 |
| 277 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.62 |
| 278 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 1.62 |
| 279 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.62 |
| 280 | Sarcoma | Enrichment | TP53 | 1.62 |
| 281 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.62 |
| 282 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.62 |
| 283 | Periampullary adenoma | Enrichment | APC | 1.62 |
| 284 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.62 |
| 285 | Cervix carcinoma | Enrichment | TP53 | 1.62 |
| 286 | Hodgkin's lymphoma | Enrichment | TP53 | 1.62 |
| 287 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 1.62 |
| 288 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.62 |
| 289 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 1.62 |
| 290 | Horizontal gaze palsy with progressive scoliosis | Enrichment | DCC | 1.62 |
| 291 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.62 |
| 292 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.62 |
| 293 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 1.62 |
| 294 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 1.62 |
| 295 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 1.62 |
| 296 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.62 |
| 297 | Oguchi disease | Enrichment | GRK1 | 1.62 |
| 298 | Teratoma | Enrichment | CTNNB1 | 1.62 |
| 299 | Osteosclerosis | Enrichment | LRP5 | 1.62 |
| 300 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.62 |
| 301 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 1.62 |
| 302 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.62 |
| 303 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.62 |
| 304 | Tafro syndrome | Enrichment | MAP2K2 | 1.62 |
| 305 | Cerebral visual impairment | Enrichment | GNB1 | 1.62 |
| 306 | Multisystem inflammatory syndrome in children | Enrichment | TLR3, TLR6 | 1.54 |
| 307 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 1.50 |
| 308 | Malaria | Enrichment | NOS2, TNF | 1.50 |
| 309 | Congenital stationary night blindness | Enrichment | GNB3, GRK1 | 1.50 |
| 310 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.44 |
| 311 | Mccune-albright syndrome | Enrichment | GNAS | 1.44 |
| 312 | Ataxia-telangiectasia | Enrichment | BRAF | 1.44 |
| 313 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.44 |
| 314 | Asthma, nasal polyps, and aspirin intolerance | Enrichment | PTGER2 | 1.44 |
| 315 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.44 |
| 316 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | TLR8 | 1.44 |
| 317 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.44 |
| 318 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.44 |
| 319 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.44 |
| 320 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.44 |
| 321 | Nuchal bleb, familial | Enrichment | SOS1 | 1.44 |
| 322 | Osteogenic sarcoma | Enrichment | TP53 | 1.44 |
| 323 | Psoriatic arthritis | Enrichment | TNF | 1.44 |
| 324 | Hepatitis c virus | Enrichment | IFNG | 1.44 |
| 325 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.44 |
| 326 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.44 |
| 327 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.44 |
| 328 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.44 |
| 329 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.44 |
| 330 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.44 |
| 331 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.44 |
| 332 | Lynch syndrome 5 | Enrichment | MSH6 | 1.44 |
| 333 | Immunodeficiency 28 | Enrichment | IFNGR2 | 1.44 |
| 334 | Anus, imperforate | Enrichment | CTNNB1 | 1.44 |
| 335 | Familial adenomatous polyposis 4 | Enrichment | MSH3 | 1.44 |
| 336 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.44 |
| 337 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.44 |
| 338 | Hyper ige syndrome | Enrichment | STAT3 | 1.44 |
| 339 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.44 |
| 340 | Nail disease | Enrichment | FZD6 | 1.44 |
| 341 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.44 |
| 342 | Anaplastic astrocytoma | Enrichment | TP53 | 1.44 |
| 343 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.44 |
| 344 | Squamous cell carcinoma | Enrichment | TP53 | 1.44 |
| 345 | Cellular ependymoma | Enrichment | MSH2 | 1.44 |
| 346 | Tanycytic ependymoma | Enrichment | MSH2 | 1.44 |
| 347 | Papillary ependymoma | Enrichment | MSH2 | 1.44 |
| 348 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.44 |
| 349 | Adenocarcinoma | Enrichment | TP53 | 1.44 |
| 350 | Migraine without aura | Enrichment | TNF | 1.44 |
| 351 | Bone osteosarcoma | Enrichment | TP53 | 1.44 |
| 352 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.44 |
| 353 | Tetraamelia syndrome | Enrichment | WNT3 | 1.44 |
| 354 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 1.44 |
| 355 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.44 |
| 356 | Clear cell ependymoma | Enrichment | MSH2 | 1.44 |
| 357 | Megalencephalic leukoencephalopathy with subcortical cysts | Enrichment | MLC1 | 1.44 |
| 358 | Hypomyelination neuropathy-arthrogryposis syndrome | Enrichment | ADCY6 | 1.44 |
| 359 | Apc-associated polyposis conditions | Enrichment | APC | 1.44 |
| 360 | Autism spectrum disorder | Enrichment | DCC, GNB1, MAP2K1, TCF4 | 1.36 |
| 361 | Kaposi sarcoma | Enrichment | IL6 | 1.32 |
| 362 | Mirror movements 1 | Enrichment | DCC | 1.32 |
| 363 | Chorea, benign hereditary | Enrichment | ADCY5 | 1.32 |
| 364 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS | 1.32 |
| 365 | Gaucher disease, type i | Enrichment | MSH6 | 1.32 |
| 366 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 1.32 |
| 367 | Small cell cancer of the lung | Enrichment | TP53 | 1.32 |
| 368 | Anemia, autoimmune hemolytic | Enrichment | TLR8 | 1.32 |
| 369 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.32 |
| 370 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.32 |
| 371 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.32 |
| 372 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.32 |
| 373 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3R2 | 1.32 |
| 374 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.32 |
| 375 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.32 |
| 376 | Pilomatrixoma | Enrichment | CTNNB1 | 1.32 |
| 377 | Carney complex variant | Enrichment | PRKAR1A | 1.32 |
| 378 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.32 |
| 379 | Alazami syndrome | Enrichment | CTNNB1 | 1.32 |
| 380 | Mantle cell lymphoma | Enrichment | CCND1 | 1.32 |
| 381 | Orofacial cleft | Enrichment | LRP6 | 1.32 |
| 382 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 1.32 |
| 383 | Ectodermal dysplasia | Enrichment | WNT10A | 1.32 |
| 384 | Hepatitis b | Enrichment | IFNGR1 | 1.32 |
| 385 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.32 |
| 386 | Noonan syndrome with multiple lentigines | Enrichment | BRAF | 1.32 |
| 387 | Pilocytic astrocytoma | Enrichment | KRAS | 1.32 |
| 388 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.32 |
| 389 | Eyelid coloboma | Enrichment | FZD5 | 1.32 |
| 390 | Cerebral malaria | Enrichment | TNF | 1.32 |
| 391 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.32 |
| 392 | Vitreoretinopathy | Enrichment | LRP5 | 1.32 |
| 393 | Benign ependymoma | Enrichment | MSH2 | 1.32 |
| 394 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.32 |
| 395 | Gingival fibromatosis | Enrichment | SOS1 | 1.32 |
| 396 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.32 |
| 397 | Lens coloboma | Enrichment | FZD5 | 1.32 |
| 398 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.32 |
| 399 | Differentiated thyroid carcinoma | Enrichment | BRAF, KRAS | 1.32 |
| 400 | Non-immune hydrops fetalis | Enrichment | FZD6, KRAS | 1.26 |
| 401 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 1.24 |
| 402 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.23 |
| 403 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.23 |
| 404 | Norrie disease | Enrichment | FZD4 | 1.23 |
| 405 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.23 |
| 406 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | Enrichment | MLC1 | 1.23 |
| 407 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.23 |
| 408 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.23 |
| 409 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.23 |
| 410 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.23 |
| 411 | Lymphoma | Enrichment | TP53 | 1.23 |
| 412 | Glioblastoma | Enrichment | MSH2 | 1.23 |
| 413 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.23 |
| 414 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.23 |
| 415 | Vascular dementia | Enrichment | TNF | 1.23 |
| 416 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.23 |
| 417 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 1.23 |
| 418 | Herpes simplex virus encephalitis | Enrichment | TLR3 | 1.23 |
| 419 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.23 |
| 420 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.23 |
| 421 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.23 |
| 422 | Microcephaly | Enrichment | CTNNB1, GNB1, MAPK1, TCF4 | 1.20 |
| 423 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.15 |
| 424 | Li-fraumeni syndrome | Enrichment | TP53 | 1.15 |
| 425 | Coloboma of optic nerve | Enrichment | FZD5 | 1.15 |
| 426 | Cowden syndrome 1 | Enrichment | EGFR | 1.15 |
| 427 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.15 |
| 428 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.15 |
| 429 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.15 |
| 430 | Wilms tumor 5 | Enrichment | BRAF | 1.15 |
| 431 | Renal dysplasia, cystic | Enrichment | WNT9B | 1.15 |
| 432 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.15 |
| 433 | Renal hypoplasia | Enrichment | WNT9B | 1.15 |
| 434 | Diarrhea | Enrichment | WNT2B | 1.15 |
| 435 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.15 |
| 436 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.15 |
| 437 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.15 |
| 438 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.15 |
| 439 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.15 |
| 440 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.15 |
| 441 | Systemic lupus erythematosus | Enrichment | TLR7, TNF | 1.09 |
| 442 | Nevus, epidermal | Enrichment | KRAS | 1.09 |
| 443 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.09 |
| 444 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF | 1.09 |
| 445 | Myelofibrosis | Enrichment | SRC | 1.09 |
| 446 | Coats disease | Enrichment | FZD4 | 1.09 |
| 447 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.09 |
| 448 | Brachydactyly | Enrichment | GNAS | 1.09 |
| 449 | Essential thrombocythemia | Enrichment | TP53 | 1.09 |
| 450 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.09 |
| 451 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.09 |
| 452 | Follicular thyroid carcinoma | Enrichment | BRAF | 1.09 |
| 453 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.09 |
| 454 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.09 |
| 455 | Leukemia, acute myeloid | Enrichment | KRAS, TP53 | 1.07 |
| 456 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF | 1.03 |
| 457 | Glioma susceptibility 1 | Enrichment | TP53 | 1.03 |
| 458 | Renal hypodysplasia/aplasia 1 | Enrichment | WNT9B | 1.03 |
| 459 | Hypothyroidism | Enrichment | GNB1 | 1.03 |
| 460 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.03 |
| 461 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.03 |
| 462 | Tooth agenesis, selective, 1 | Enrichment | AXIN2 | 0.98 |
| 463 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 0.98 |
| 464 | Rheumatoid arthritis | Enrichment | TLR1 | 0.98 |
| 465 | Charge syndrome | Enrichment | TNFRSF1A | 0.98 |
| 466 | Inflammatory bowel disease 1 | Enrichment | IL6 | 0.98 |
| 467 | Arteriovenous malformation | Enrichment | MAP2K1 | 0.98 |
| 468 | Ventricular septal defect | Enrichment | BRAF | 0.98 |
| 469 | Cowden syndrome | Enrichment | AKT1 | 0.98 |
| 470 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 0.98 |
| 471 | Renal agenesis, bilateral | Enrichment | WNT9B | 0.98 |
| 472 | Cat eye syndrome | Enrichment | FZD5 | 0.94 |
| 473 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 0.94 |
| 474 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 0.94 |
| 475 | Aplastic anemia | Enrichment | IFNG | 0.94 |
| 476 | Melanoma | Enrichment | BRAF | 0.94 |
| 477 | Thrombocytopenia | Enrichment | SMAD4, SRC | 0.94 |
| 478 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, GNAS | 0.91 |
| 479 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1, TCF4 | 0.91 |
| 480 | Pectus excavatum | Enrichment | TGFBR1 | 0.90 |
| 481 | Asthma | Enrichment | TNF | 0.90 |
| 482 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 0.90 |
| 483 | Specific learning disability | Enrichment | MAPK1 | 0.90 |
| 484 | Epicanthus | Enrichment | TCF4 | 0.86 |
| 485 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 0.86 |
| 486 | Meningioma | Enrichment | AKT1 | 0.86 |
| 487 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 0.86 |
| 488 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 0.86 |
| 489 | Congenital nervous system abnormality | Enrichment | CTNNB1, GNB5, MLC1 | 0.86 |
| 490 | Nervous system disease | Enrichment | CTNNB1, GNB5, MLC1 | 0.86 |
| 491 | Aortic valve disease 1 | Enrichment | SOS1 | 0.83 |
| 492 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 0.83 |
| 493 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 0.83 |
| 494 | Breast-ovarian cancer, familial 1 | Enrichment | MSH2 | 0.83 |
| 495 | Alzheimer's disease | Enrichment | TNF | 0.83 |
| 496 | Stereotypic movement disorder | Enrichment | TCF4 | 0.83 |
| 497 | Chronic kidney disease | Enrichment | WNT9B | 0.83 |
| 498 | Multiple sclerosis | Enrichment | TNFRSF1A | 0.80 |
| 499 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 0.80 |
| 500 | Cleft lip/palate | Enrichment | CDH1 | 0.80 |
| 501 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 0.80 |
| 502 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.80 |
| 503 | Coloboma of macula | Enrichment | FZD5 | 0.78 |
| 504 | Wilms tumor 1 | Enrichment | BRAF | 0.78 |
| 505 | Corpus callosum, agenesis of | Enrichment | DCC | 0.78 |
| 506 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.78 |
| 507 | Hydrocephalus | Enrichment | FZD3 | 0.78 |
| 508 | Isolated corpus callosum agenesis | Enrichment | DCC | 0.78 |
| 509 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | DCC | 0.78 |
| 510 | Hypertension, essential | Enrichment | GNB3 | 0.73 |
| 511 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.73 |
| 512 | Cleft palate, isolated | Enrichment | GNB1 | 0.73 |
| 513 | Dandy-walker syndrome | Enrichment | BRAF | 0.73 |
| 514 | Heart, malformation of | Enrichment | MAPK1 | 0.70 |
| 515 | Macs syndrome | Enrichment | WNT7B | 0.66 |
| 516 | Maturity-onset diabetes of the young | Enrichment | APPL1 | 0.66 |
| 517 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.63 |
| 518 | Visceral heterotaxy | Enrichment | LEFTY2 | 0.63 |
| 519 | Microphthalmia | Enrichment | WNT7B | 0.63 |
| 520 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.61 |
| 521 | Kallmann syndrome | Enrichment | DCC | 0.61 |
| 522 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.61 |
| 523 | Autoinflammatory disease | Enrichment | TNFRSF1A | 0.59 |
| 524 | Jeune thoracic dystrophy | Enrichment | GRK2 | 0.58 |
| 525 | Hydrops fetalis, nonimmune | Enrichment | FZD6 | 0.56 |
| 526 | Strabismus | Enrichment | GNB1 | 0.55 |
| 527 | Asphyxiating thoracic dystrophy | Enrichment | GRK2 | 0.54 |
| 528 | Hirschsprung disease 1 | Enrichment | AXIN2 | 0.52 |
| 529 | Cystic fibrosis | Enrichment | TGFB1 | 0.49 |
| 530 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | GRK2 | 0.48 |
| 531 | Dystonia | Enrichment | GNB1 | 0.46 |
| 532 | Diamond-blackfan anemia | Enrichment | TP53 | 0.45 |
| 533 | Cerebral palsy | Enrichment | GNB1 | 0.42 |
| 534 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.40 |
| 535 | Distal arthrogryposis | Enrichment | FZD3 | 0.40 |
| 536 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.22 |
| 537 | Dilated cardiomyopathy | Enrichment | BRAF | 0.20 |
| 538 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADCY1 | 0.18 |
| 539 | Hereditary retinal dystrophy | Enrichment | FZD4, GRK1, LRP5 | 0.16 |
| 540 | Fundus dystrophy | Enrichment | FZD4, GRK1, LRP5 | 0.16 |
| 541 | Complex neurodevelopmental disorder | Enrichment | GNB2 | 0.11 |