| 1 | Van buchem disease | Enrichment | LRP5, SOST | 4.46 |
| 2 | Craniodiaphyseal dysplasia | Enrichment | SOST, SP7 | 4.46 |
| 3 | Paget disease of bone 5, juvenile-onset | Enrichment | TNFRSF11A, TNFRSF11B | 4.46 |
| 4 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1, VCP | 4.46 |
| 5 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2, SMAD9 | 3.99 |
| 6 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1, TNFRSF11A | 3.69 |
| 7 | Paget's disease of bone 2 | Enrichment | SQSTM1, TNFRSF11A | 3.69 |
| 8 | Atrioventricular septal defect | Enrichment | BMP5, NR1D2 | 3.47 |
| 9 | Breast adenocarcinoma | Enrichment | AKT1, RB1CC1 | 3.29 |
| 10 | Hemochromatosis, type 1 | Enrichment | BMP2, BMP6 | 3.03 |
| 11 | Behavioral variant of frontotemporal dementia | Enrichment | SQSTM1, VCP | 2.92 |
| 12 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1, VCP | 2.82 |
| 13 | Heritable pulmonary arterial hypertension | Enrichment | BMPR2, SMAD9 | 2.74 |
| 14 | Osteogenesis imperfecta, type iv | Enrichment | SERPINF1, SP7 | 2.59 |
| 15 | Chiari malformation type i | Enrichment | DKK1 | 2.23 |
| 16 | Proteus syndrome | Enrichment | AKT1 | 2.23 |
| 17 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.23 |
| 18 | Craniodiaphyseal dysplasia, autosomal dominant | Enrichment | SOST | 2.23 |
| 19 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.23 |
| 20 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.23 |
| 21 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.23 |
| 22 | Sclerosteosis 1 | Enrichment | SOST | 2.23 |
| 23 | Pycnodysostosis | Enrichment | CTSK | 2.23 |
| 24 | Osteopetrosis, autosomal recessive 7 | Enrichment | TNFRSF11A | 2.23 |
| 25 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 2.23 |
| 26 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | Enrichment | VCP | 2.23 |
| 27 | Short sleep, familial natural, 1 | Enrichment | BHLHE41 | 2.23 |
| 28 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.23 |
| 29 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.23 |
| 30 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.23 |
| 31 | Spinocerebellar ataxia, autosomal recessive 25 | Enrichment | ATG5 | 2.23 |
| 32 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.23 |
| 33 | Epilepsy, idiopathic generalized 15 | Enrichment | RORB | 2.23 |
| 34 | Osteopetrosis, autosomal dominant 3 | Enrichment | PLEKHM1 | 2.23 |
| 35 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.23 |
| 36 | Danon disease | Enrichment | LAMP2 | 2.23 |
| 37 | Orofacial cleft 11 | Enrichment | BMP4 | 2.23 |
| 38 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.23 |
| 39 | Cataract 18 | Enrichment | FYCO1 | 2.23 |
| 40 | Cone-rod dystrophy 21 | Enrichment | DRAM2 | 2.23 |
| 41 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.23 |
| 42 | Inflammatory bowel disease 10 | Enrichment | ATG16L1 | 2.23 |
| 43 | Iron overload | Enrichment | BMP6 | 2.23 |
| 44 | Hypogonadotropic hypogonadism 16 with or without anosmia | Enrichment | SEMA3A | 2.23 |
| 45 | Cowden syndrome 6 | Enrichment | AKT1 | 2.23 |
| 46 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.23 |
| 47 | Delayed sleep phase disorder | Enrichment | CRY1 | 2.23 |
| 48 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Enrichment | VCP | 2.23 |
| 49 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.23 |
| 50 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.23 |
| 51 | Multisystem proteinopathy | Enrichment | VCP | 2.23 |
| 52 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.23 |
| 53 | Adult-onset distal myopathy due to vcp mutation | Enrichment | VCP | 2.23 |
| 54 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.23 |
| 55 | Primary pulmonary hypertension | Enrichment | BMPR2 | 2.23 |
| 56 | Pulmonary hypertension | Enrichment | BMPR2 | 2.23 |
| 57 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 2.23 |
| 58 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.23 |
| 59 | Brittle bone disorder | Enrichment | LRP5, SERPINF1 | 2.10 |
| 60 | Familial expansile osteolysis | Enrichment | TNFRSF11A | 1.93 |
| 61 | Hypoparathyroidism, familial isolated, 1 | Enrichment | PTH | 1.93 |
| 62 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 1.93 |
| 63 | Myhre syndrome | Enrichment | SMAD4 | 1.93 |
| 64 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.93 |
| 65 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 1.93 |
| 66 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | Enrichment | VCP | 1.93 |
| 67 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.93 |
| 68 | Welander distal myopathy | Enrichment | SQSTM1 | 1.93 |
| 69 | Osteogenesis imperfecta, type xii | Enrichment | SP7 | 1.93 |
| 70 | Fibrodysplasia ossificans progressiva | Enrichment | BMPR2 | 1.93 |
| 71 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.93 |
| 72 | Fatty liver disease 1 | Enrichment | ATG7 | 1.93 |
| 73 | Thrombocythemia 3 | Enrichment | JAK2 | 1.93 |
| 74 | Osteopetrosis, autosomal recessive 2 | Enrichment | TNFSF11 | 1.93 |
| 75 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 1.93 |
| 76 | Cebalid syndrome | Enrichment | MTOR | 1.93 |
| 77 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.93 |
| 78 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 1.93 |
| 79 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.93 |
| 80 | Sclerosteosis | Enrichment | SOST | 1.93 |
| 81 | Spinocerebellar ataxia, autosomal recessive 31 | Enrichment | ATG7 | 1.93 |
| 82 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.93 |
| 83 | Paget's disease of bone | Enrichment | SQSTM1 | 1.93 |
| 84 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.93 |
| 85 | Polycythemia | Enrichment | JAK2 | 1.93 |
| 86 | Craniosynostosis 7 | Enrichment | BMP2 | 1.93 |
| 87 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.93 |
| 88 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.93 |
| 89 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 1.93 |
| 90 | Osteosclerosis | Enrichment | LRP5 | 1.93 |
| 91 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 1.93 |
| 92 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.75 |
| 93 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.75 |
| 94 | Dysosteosclerosis | Enrichment | TNFRSF11A | 1.75 |
| 95 | Polycythemia vera | Enrichment | JAK2 | 1.75 |
| 96 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.75 |
| 97 | Osteoporosis, juvenile | Enrichment | DKK1 | 1.75 |
| 98 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.75 |
| 99 | Osteogenesis imperfecta, type vi | Enrichment | SERPINF1 | 1.75 |
| 100 | Nail disorder, nonsyndromic congenital, 9 | Enrichment | CTSK | 1.75 |
| 101 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia | Enrichment | VCP | 1.75 |
| 102 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 1.75 |
| 103 | Osteopetrosis, autosomal recessive 6 | Enrichment | PLEKHM1 | 1.75 |
| 104 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 1.75 |
| 105 | Familial isolated hypoparathyroidism | Enrichment | PTH | 1.75 |
| 106 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.75 |
| 107 | Adult-onset myasthenia gravis | Enrichment | TNFRSF11A | 1.75 |
| 108 | Keratoacanthoma | Enrichment | NOTCH1 | 1.75 |
| 109 | Kaposi sarcoma | Enrichment | IL6 | 1.63 |
| 110 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.63 |
| 111 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.63 |
| 112 | Robinow syndrome, autosomal dominant 1 | Enrichment | WNT5A | 1.63 |
| 113 | Budd-chiari syndrome | Enrichment | JAK2 | 1.63 |
| 114 | Microtia-anotia | Enrichment | BMP5 | 1.63 |
| 115 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.63 |
| 116 | Chondrocalcinosis 2 | Enrichment | TNFRSF11B | 1.63 |
| 117 | Barrett esophagus | Enrichment | CTHRC1 | 1.63 |
| 118 | Cone-rod dystrophy 16 | Enrichment | DRAM2 | 1.63 |
| 119 | Leptin deficiency or dysfunction | Enrichment | LEP | 1.63 |
| 120 | Retinopathy of prematurity | Enrichment | LRP5 | 1.63 |
| 121 | Autosomal dominant robinow syndrome | Enrichment | WNT5A | 1.63 |
| 122 | Autosomal recessive osteopetrosis | Enrichment | TNFSF11 | 1.63 |
| 123 | Primary hyperparathyroidism | Enrichment | PTH | 1.63 |
| 124 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.63 |
| 125 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.63 |
| 126 | Vitreoretinopathy | Enrichment | LRP5 | 1.63 |
| 127 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, SMAD4 | 1.56 |
| 128 | Hereditary breast carcinoma | Enrichment | AKT1, RB1CC1 | 1.56 |
| 129 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.54 |
| 130 | Dementia, lewy body | Enrichment | VCP | 1.54 |
| 131 | Exudative vitreoretinopathy 1 | Enrichment | LRP5 | 1.54 |
| 132 | Robinow syndrome, autosomal recessive 1 | Enrichment | WNT5A | 1.54 |
| 133 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.54 |
| 134 | Insulin-like growth factor i | Enrichment | IGF1 | 1.54 |
| 135 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | VCP | 1.54 |
| 136 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.54 |
| 137 | Cholangitis, primary sclerosing | Enrichment | SEMA4D | 1.54 |
| 138 | Follicular lymphoma | Enrichment | BCL2 | 1.54 |
| 139 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.54 |
| 140 | Hemimegalencephaly | Enrichment | MTOR | 1.54 |
| 141 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.54 |
| 142 | Atrial septal defect 1 | Enrichment | BMP2 | 1.46 |
| 143 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.46 |
| 144 | Epilepsy, childhood absence 1 | Enrichment | RORB | 1.46 |
| 145 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.46 |
| 146 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | TRAP1 | 1.46 |
| 147 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.46 |
| 148 | Autosomal recessive robinow syndrome | Enrichment | WNT5A | 1.46 |
| 149 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.46 |
| 150 | Myelofibrosis | Enrichment | JAK2 | 1.39 |
| 151 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.39 |
| 152 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.39 |
| 153 | Essential thrombocythemia | Enrichment | JAK2 | 1.39 |
| 154 | Gallbladder cancer | Enrichment | SMAD4 | 1.39 |
| 155 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.39 |
| 156 | Overgrowth syndrome | Enrichment | MTOR | 1.39 |
| 157 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | SQSTM1, VCP | 1.34 |
| 158 | Exudative vitreoretinopathy | Enrichment | LRP5 | 1.34 |
| 159 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.34 |
| 160 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.34 |
| 161 | Primary ovarian insufficiency | Enrichment | BMP6, JAK2 | 1.32 |
| 162 | Tooth agenesis, selective, 1 | Enrichment | BMPR2 | 1.29 |
| 163 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.29 |
| 164 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.29 |
| 165 | Progressive non-fluent aphasia | Enrichment | VCP | 1.29 |
| 166 | Cowden syndrome | Enrichment | AKT1 | 1.29 |
| 167 | Peters-plus syndrome | Enrichment | BMP4 | 1.24 |
| 168 | Stickler syndrome | Enrichment | BMP4 | 1.24 |
| 169 | Primary bone dysplasia | Enrichment | CTSK | 1.24 |
| 170 | Epilepsy, idiopathic generalized | Enrichment | RORB | 1.20 |
| 171 | Osteochondrodysplasia | Enrichment | CTSK | 1.20 |
| 172 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.16 |
| 173 | Meningioma | Enrichment | AKT1 | 1.16 |
| 174 | Breast cancer | Enrichment | AKT1, RB1CC1 | 1.14 |
| 175 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.13 |
| 176 | Pulmonary hypertension, primary, 1 | Enrichment | BMPR2 | 1.13 |
| 177 | Alzheimer's disease | Enrichment | VCP | 1.13 |
| 178 | Osteoporosis | Enrichment | LRP5 | 1.10 |
| 179 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.10 |
| 180 | Cleft lip/palate | Enrichment | BMP4 | 1.10 |
| 181 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.07 |
| 182 | Osteogenesis imperfecta, type iii | Enrichment | SERPINF1 | 1.07 |
| 183 | Rare genetic intellectual disability | Enrichment | MTOR | 1.07 |
| 184 | Colorectal cancer | Enrichment | AKT1, SMAD4 | 1.03 |
| 185 | Alzheimer disease, familial, 1 | Enrichment | VCP | 1.02 |
| 186 | Cataract 44 | Enrichment | FYCO1 | 1.02 |
| 187 | Polycystic liver disease | Enrichment | LRP5 | 1.02 |
| 188 | Autosomal dominant polycystic liver disease | Enrichment | LRP5 | 1.02 |
| 189 | Early-onset nuclear cataract | Enrichment | FYCO1 | 1.00 |
| 190 | Arteriovenous malformations of the brain | Enrichment | IL6 | 0.97 |
| 191 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | VCP | 0.97 |
| 192 | Tooth agenesis | Enrichment | WNT10B | 0.91 |
| 193 | Kallmann syndrome | Enrichment | SEMA3A | 0.90 |
| 194 | Scoliosis | Enrichment | CTSK | 0.88 |
| 195 | Pancreatic cancer | Enrichment | SMAD4 | 0.86 |
| 196 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.85 |
| 197 | Brugada syndrome | Enrichment | SEMA3A | 0.85 |
| 198 | Severe covid-19 | Enrichment | FYCO1 | 0.80 |
| 199 | Cystic fibrosis | Enrichment | TGFB1 | 0.76 |
| 200 | Connective tissue disease | Enrichment | NOTCH1 | 0.76 |
| 201 | Familial hypertrophic cardiomyopathy | Enrichment | LAMP2 | 0.75 |
| 202 | Cakut | Enrichment | TRAP1 | 0.74 |
| 203 | Left ventricular noncompaction | Enrichment | LAMP2 | 0.73 |
| 204 | Eye disease | Enrichment | FYCO1 | 0.73 |
| 205 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.68 |
| 206 | Epilepsy | Enrichment | RORB | 0.68 |
| 207 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.66 |
| 208 | Gastric cancer | Enrichment | SMAD4 | 0.65 |
| 209 | Nephrotic syndrome | Enrichment | RUNX2 | 0.65 |
| 210 | Hypertrophic cardiomyopathy | Enrichment | LAMP2 | 0.65 |
| 211 | Thrombocytopenia | Enrichment | SMAD4 | 0.61 |
| 212 | Cone-rod dystrophy 2 | Enrichment | DRAM2 | 0.48 |
| 213 | Dilated cardiomyopathy | Enrichment | LAMP2 | 0.42 |
| 214 | Ovarian cancer | Enrichment | AKT1 | 0.35 |
| 215 | Hereditary retinal dystrophy | Enrichment | DRAM2, LRP5 | 0.29 |
| 216 | Fundus dystrophy | Enrichment | DRAM2, LRP5 | 0.29 |
| 217 | Inherited cancer-predisposing syndrome | Enrichment | SMAD4 | 0.26 |