| 1 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1, WNT3A | 7.38 |
| 2 | Proximal symphalangism | Enrichment | GDF5, NOG | 4.91 |
| 3 | Septopreoptic holoprosencephaly | Enrichment | FGF8, NODAL, SHH | 4.74 |
| 4 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8, NODAL, SHH | 4.74 |
| 5 | Microform holoprosencephaly | Enrichment | FGF8, NODAL, SHH | 4.65 |
| 6 | Lobar holoprosencephaly | Enrichment | FGF8, NODAL, SHH | 4.65 |
| 7 | Alobar holoprosencephaly | Enrichment | FGF8, NODAL, SHH | 4.56 |
| 8 | Semilobar holoprosencephaly | Enrichment | FGF8, NODAL, SHH | 4.49 |
| 9 | Multiple synostoses syndrome | Enrichment | GDF5, NOG | 4.14 |
| 10 | Type 1 diabetes mellitus | Enrichment | IL6, INS | 3.74 |
| 11 | Testicular germ cell tumor | Enrichment | KIT, KITLG | 3.74 |
| 12 | Macs syndrome | Enrichment | SHH, WNT7B | 2.65 |
| 13 | Holoprosencephaly 3 | Enrichment | SHH | 2.45 |
| 14 | Chiari malformation type i | Enrichment | DKK1 | 2.45 |
| 15 | Calcification of joints and arteries | Enrichment | NT5E | 2.45 |
| 16 | Stapes ankylosis with broad thumbs and toes | Enrichment | NOG | 2.45 |
| 17 | Tarsal-carpal coalition syndrome | Enrichment | NOG | 2.45 |
| 18 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.45 |
| 19 | Angel-shaped phalangoepiphyseal dysplasia | Enrichment | GDF5 | 2.45 |
| 20 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.45 |
| 21 | Mastocytosis, cutaneous | Enrichment | KIT | 2.45 |
| 22 | Brachydactyly, type b2 | Enrichment | NOG | 2.45 |
| 23 | Neuroblastoma 3 | Enrichment | ALK | 2.45 |
| 24 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.45 |
| 25 | Hyperpigmentation with or without hypopigmentation, familial progressive | Enrichment | KITLG | 2.45 |
| 26 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.45 |
| 27 | Symphalangism, proximal, 1a | Enrichment | NOG | 2.45 |
| 28 | Multiple synostoses syndrome 1 | Enrichment | NOG | 2.45 |
| 29 | Microvascular complications of diabetes 2 | Enrichment | EPO | 2.45 |
| 30 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 2.45 |
| 31 | Atransferrinemia | Enrichment | TF | 2.45 |
| 32 | Heterotaxy, visceral, 5, autosomal | Enrichment | NODAL | 2.45 |
| 33 | Diarrhea 9 | Enrichment | WNT2B | 2.45 |
| 34 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.45 |
| 35 | Orofacial cleft 11 | Enrichment | BMP4 | 2.45 |
| 36 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 2.45 |
| 37 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.45 |
| 38 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.45 |
| 39 | Ovary adenocarcinoma | Enrichment | INHBA | 2.45 |
| 40 | Skin/hair/eye pigmentation, variation in, 7 | Enrichment | KITLG | 2.45 |
| 41 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 2.45 |
| 42 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.45 |
| 43 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.45 |
| 44 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.45 |
| 45 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.45 |
| 46 | Erythrocytosis, familial, 5 | Enrichment | EPO | 2.45 |
| 47 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.45 |
| 48 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.45 |
| 49 | Chronic mast cell leukemia | Enrichment | KIT | 2.45 |
| 50 | Deafness, autosomal dominant 69 | Enrichment | KITLG | 2.45 |
| 51 | Csf1r-related disorder | Enrichment | CSF1R | 2.45 |
| 52 | Immunodeficiency 125 | Enrichment | FLT3LG | 2.45 |
| 53 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.45 |
| 54 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.45 |
| 55 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.45 |
| 56 | Alk-positive anaplastic large cell lymphoma | Enrichment | ALK | 2.45 |
| 57 | Mastocytosis | Enrichment | KIT | 2.45 |
| 58 | Familial progressive hyperpigmentation | Enrichment | KITLG | 2.45 |
| 59 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.45 |
| 60 | Cutaneous mastocytoma | Enrichment | KIT | 2.45 |
| 61 | Typical urticaria pigmentosa | Enrichment | KIT | 2.45 |
| 62 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.45 |
| 63 | Alk-positive large b-cell lymphoma | Enrichment | ALK | 2.45 |
| 64 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.45 |
| 65 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.45 |
| 66 | Acute mast cell leukemia | Enrichment | KIT | 2.45 |
| 67 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.45 |
| 68 | Familial progressive hyper- and hypopigmentation | Enrichment | KITLG | 2.45 |
| 69 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.45 |
| 70 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 2.45 |
| 71 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.45 |
| 72 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.45 |
| 73 | Testis seminoma | Enrichment | KIT | 2.45 |
| 74 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.15 |
| 75 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 2.15 |
| 76 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.15 |
| 77 | Piebald trait | Enrichment | KIT | 2.15 |
| 78 | Multiple synostoses syndrome 2 | Enrichment | GDF5 | 2.15 |
| 79 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 2.15 |
| 80 | Solitary median maxillary central incisor | Enrichment | SHH | 2.15 |
| 81 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.15 |
| 82 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 2.15 |
| 83 | Osteopetrosis, autosomal recessive 2 | Enrichment | TNFSF11 | 2.15 |
| 84 | Brachydactyly, type a1, c | Enrichment | GDF5 | 2.15 |
| 85 | Symphalangism, proximal, 1b | Enrichment | GDF5 | 2.15 |
| 86 | Waardenburg syndrome, type 2f | Enrichment | KITLG | 2.15 |
| 87 | Hyperproinsulinemia | Enrichment | INS | 2.15 |
| 88 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.15 |
| 89 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.15 |
| 90 | Thyroid dyshormonogenesis 2a | Enrichment | TPO | 2.15 |
| 91 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.15 |
| 92 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 2.15 |
| 93 | Loeys-dietz syndrome 4 | Enrichment | TGFB3 | 2.15 |
| 94 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.15 |
| 95 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.15 |
| 96 | Isolated radial hemimelia | Enrichment | SHH | 2.15 |
| 97 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, TGFB3 | 1.98 |
| 98 | Brachydactyly, type a1 | Enrichment | GDF5 | 1.98 |
| 99 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10 | 1.98 |
| 100 | Brachydactyly, type c | Enrichment | GDF5 | 1.98 |
| 101 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.98 |
| 102 | Acromesomelic dysplasia 2a | Enrichment | GDF5 | 1.98 |
| 103 | Acromesomelic dysplasia 2c | Enrichment | GDF5 | 1.98 |
| 104 | Acromesomelic dysplasia 2b | Enrichment | GDF5 | 1.98 |
| 105 | Syndactyly, type iv | Enrichment | SHH | 1.98 |
| 106 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.98 |
| 107 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.98 |
| 108 | Testicular germ cell cancer | Enrichment | KIT | 1.98 |
| 109 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 1.98 |
| 110 | Keratoacanthoma | Enrichment | NOTCH1 | 1.98 |
| 111 | Kaposi sarcoma | Enrichment | IL6 | 1.85 |
| 112 | Brachydactyly, type a2 | Enrichment | GDF5 | 1.85 |
| 113 | Polydactyly, preaxial ii | Enrichment | SHH | 1.85 |
| 114 | Robinow syndrome, autosomal dominant 1 | Enrichment | WNT5A | 1.85 |
| 115 | Schizencephaly | Enrichment | SHH | 1.85 |
| 116 | Neonatal diabetes mellitus | Enrichment | INS | 1.85 |
| 117 | Orofacial cleft | Enrichment | FST | 1.85 |
| 118 | Autosomal dominant robinow syndrome | Enrichment | WNT5A | 1.85 |
| 119 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 1.85 |
| 120 | Autosomal recessive osteopetrosis | Enrichment | TNFSF11 | 1.85 |
| 121 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.85 |
| 122 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.85 |
| 123 | Orofacial clefting syndrome | Enrichment | FST | 1.85 |
| 124 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.76 |
| 125 | Robinow syndrome, autosomal recessive 1 | Enrichment | WNT5A | 1.76 |
| 126 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.76 |
| 127 | Insulin-like growth factor i | Enrichment | IGF1 | 1.76 |
| 128 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.76 |
| 129 | Holoprosencephaly | Enrichment | FGF8 | 1.76 |
| 130 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.76 |
| 131 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 1.76 |
| 132 | Holoprosencephaly 1 | Enrichment | FGF8 | 1.68 |
| 133 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.68 |
| 134 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.68 |
| 135 | Inflammatory myofibroblastic tumor | Enrichment | ALK | 1.68 |
| 136 | Autosomal recessive robinow syndrome | Enrichment | WNT5A | 1.68 |
| 137 | Familial thyroid dyshormonogenesis | Enrichment | TPO | 1.68 |
| 138 | Diarrhea | Enrichment | WNT2B | 1.68 |
| 139 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.68 |
| 140 | Lung squamous cell carcinoma | Enrichment | ALK | 1.68 |
| 141 | Autosomal dominant secondary polycythemia | Enrichment | EPO | 1.68 |
| 142 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.61 |
| 143 | Waardenburg syndrome, type 2e | Enrichment | KITLG | 1.61 |
| 144 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.61 |
| 145 | Melanocytic nevus syndrome, congenital | Enrichment | ALK | 1.55 |
| 146 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.55 |
| 147 | Neuroblastoma | Enrichment | ALK | 1.55 |
| 148 | Permanent neonatal diabetes mellitus | Enrichment | INS | 1.55 |
| 149 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.55 |
| 150 | Orofacial cleft 1 | Enrichment | FGF10 | 1.50 |
| 151 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.50 |
| 152 | Loeys-dietz syndrome | Enrichment | TGFB3 | 1.50 |
| 153 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.50 |
| 154 | Peters-plus syndrome | Enrichment | BMP4 | 1.46 |
| 155 | Stickler syndrome | Enrichment | BMP4 | 1.46 |
| 156 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.42 |
| 157 | Meningioma, familial | Enrichment | PDGFB | 1.42 |
| 158 | Diabetes mellitus | Enrichment | INS | 1.42 |
| 159 | Septooptic dysplasia | Enrichment | SHH | 1.38 |
| 160 | Congenital hypothyroidism | Enrichment | TPO | 1.38 |
| 161 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.38 |
| 162 | Meningioma | Enrichment | PDGFB | 1.38 |
| 163 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.38 |
| 164 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.38 |
| 165 | Lip and oral cavity carcinoma | Enrichment | KIT | 1.38 |
| 166 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.35 |
| 167 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.35 |
| 168 | Alzheimer's disease | Enrichment | CSF1R | 1.35 |
| 169 | Osteoporosis | Enrichment | WNT1 | 1.31 |
| 170 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.31 |
| 171 | Lung cancer susceptibility 3 | Enrichment | FGF10 | 1.31 |
| 172 | Cleft lip/palate | Enrichment | BMP4 | 1.31 |
| 173 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | TGFB3 | 1.31 |
| 174 | Ovarian cancer | Enrichment | ALK, KIT | 1.30 |
| 175 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.29 |
| 176 | Wolff-parkinson-white syndrome | Enrichment | NODAL | 1.26 |
| 177 | Rhabdomyosarcoma | Enrichment | ALK | 1.26 |
| 178 | Alzheimer disease, familial, 1 | Enrichment | CSF1R | 1.23 |
| 179 | Heart, malformation of | Enrichment | NODAL | 1.21 |
| 180 | Human immunodeficiency virus type 1 | Enrichment | CXCR1 | 1.21 |
| 181 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8 | 1.21 |
| 182 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.19 |
| 183 | Maturity-onset diabetes of the young | Enrichment | INS | 1.16 |
| 184 | Visceral heterotaxy | Enrichment | NODAL | 1.12 |
| 185 | Microphthalmia | Enrichment | WNT7B | 1.12 |
| 186 | Brittle bone disorder | Enrichment | WNT1 | 1.11 |
| 187 | Kallmann syndrome | Enrichment | FGF8 | 1.11 |
| 188 | Inherited cancer-predisposing syndrome | Enrichment | ALK, KIT | 1.10 |
| 189 | Tetralogy of fallot | Enrichment | NOTCH1 | 1.05 |
| 190 | Differentiated thyroid carcinoma | Enrichment | ALK | 1.01 |
| 191 | Visceral heterotaxy 5 | Enrichment | NODAL | 0.98 |
| 192 | Lung cancer | Enrichment | ALK | 0.97 |
| 193 | Cystic fibrosis | Enrichment | TGFB1 | 0.97 |
| 194 | Connective tissue disease | Enrichment | NOTCH1 | 0.97 |
| 195 | Leukemia, acute myeloid | Enrichment | KIT | 0.88 |
| 196 | Type 2 diabetes mellitus | Enrichment | IL6 | 0.86 |
| 197 | Sensorineural hearing loss | Enrichment | HGF | 0.80 |
| 198 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | KITLG | 0.77 |
| 199 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.74 |
| 200 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.73 |
| 201 | Autism | Enrichment | SHH | 0.65 |
| 202 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF | 0.57 |