| 1 | Acute basophilic leukemia | Enrichment | GATA1, MYB | 4.46 |
| 2 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 3.99 |
| 3 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, MYB, MYC | 3.49 |
| 4 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | ADA, RAG2 | 3.47 |
| 5 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA, KIT | 3.47 |
| 6 | Myopathy, centronuclear, 1 | Enrichment | MYF6, MYOD1 | 3.29 |
| 7 | Testicular germ cell tumor | Enrichment | KIT, KITLG | 3.29 |
| 8 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 3.15 |
| 9 | Omenn syndrome | Enrichment | ADA, RAG2 | 2.82 |
| 10 | Leukemia, acute myeloid | Enrichment | CEBPA, KIT, NRAS | 2.78 |
| 11 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A, PAX5 | 2.74 |
| 12 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, KIT | 2.66 |
| 13 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2, WNT1 | 2.59 |
| 14 | Alzheimer's disease | Enrichment | CSF1R, MPO | 2.59 |
| 15 | Protein-deficiency anemia | Enrichment | GATA1, NRAS | 2.59 |
| 16 | Osteoporosis | Enrichment | COL1A2, WNT1 | 2.53 |
| 17 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2, WNT1 | 2.46 |
| 18 | Alzheimer disease, familial, 1 | Enrichment | CSF1R, MPO | 2.36 |
| 19 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.23 |
| 20 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.23 |
| 21 | Anemia, congenital, nonspherocytic hemolytic, 9 | Enrichment | GATA1 | 2.23 |
| 22 | Thrombocytopenia, x-linked, with or without dyserythropoietic anemia | Enrichment | GATA1 | 2.23 |
| 23 | Thrombocytopenia with beta-thalassemia, x-linked | Enrichment | GATA1 | 2.23 |
| 24 | Cataract 21, multiple types | Enrichment | MAF | 2.23 |
| 25 | Mastocytosis, cutaneous | Enrichment | KIT | 2.23 |
| 26 | Hyperpigmentation with or without hypopigmentation, familial progressive | Enrichment | KITLG | 2.23 |
| 27 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.23 |
| 28 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.23 |
| 29 | Noonan syndrome 6 | Enrichment | NRAS | 2.23 |
| 30 | Shprintzen-goldberg craniosynostosis syndrome | Enrichment | SKI | 2.23 |
| 31 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.23 |
| 32 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.23 |
| 33 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.23 |
| 34 | Intellectual developmental disorder, autosomal dominant 66 | Enrichment | ATP2B1 | 2.23 |
| 35 | Immunodeficiency 85 and autoimmunity | Enrichment | TOM1 | 2.23 |
| 36 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.23 |
| 37 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.23 |
| 38 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.23 |
| 39 | Anemia, x-linked, with or without neutropenia and/or platelet abnormalities | Enrichment | GATA1 | 2.23 |
| 40 | Okt4 epitope deficiency | Enrichment | CD4 | 2.23 |
| 41 | Ayme-gripp syndrome | Enrichment | MAF | 2.23 |
| 42 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.23 |
| 43 | Immunodeficiency 54 | Enrichment | MCM4 | 2.23 |
| 44 | Skin/hair/eye pigmentation, variation in, 7 | Enrichment | KITLG | 2.23 |
| 45 | Atrial fibrillation, familial, 8 | Enrichment | ZFHX3 | 2.23 |
| 46 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.23 |
| 47 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.23 |
| 48 | Immunoglobulin light chain amyloidosis | Enrichment | LYZ | 2.23 |
| 49 | Autoinflammation and autoimmunity, systemic, with immune dysregulation | Enrichment | COPA | 2.23 |
| 50 | Blepharophimosis-impaired intellectual development syndrome | Enrichment | SMARCA2 | 2.23 |
| 51 | Amyloidosis, hereditary systemic 5 | Enrichment | LYZ | 2.23 |
| 52 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.23 |
| 53 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 2.23 |
| 54 | Immunodeficiency 79 | Enrichment | CD4 | 2.23 |
| 55 | Chronic mast cell leukemia | Enrichment | KIT | 2.23 |
| 56 | Deafness, autosomal dominant 69 | Enrichment | KITLG | 2.23 |
| 57 | Acute megakaryoblastic leukemia in children with down syndrome | Enrichment | GATA1 | 2.23 |
| 58 | Recombinase activating gene 2 deficiency | Enrichment | RAG2 | 2.23 |
| 59 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.23 |
| 60 | Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | Enrichment | MAD1L1 | 2.23 |
| 61 | Csf1r-related disorder | Enrichment | CSF1R | 2.23 |
| 62 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.23 |
| 63 | Immunodeficiency 126 | Enrichment | PTCRA | 2.23 |
| 64 | Thrombocytopenia with congenital dyserythropoietic anemia | Enrichment | GATA1 | 2.23 |
| 65 | Chromosome 15q24 deletion syndrome | Enrichment | SIN3A | 2.23 |
| 66 | Agammaglobulinemia | Enrichment | SPI1 | 2.23 |
| 67 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.23 |
| 68 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.23 |
| 69 | Wilms tumor 7 | Enrichment | TRIM28 | 2.23 |
| 70 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.23 |
| 71 | Mastocytosis | Enrichment | KIT | 2.23 |
| 72 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.23 |
| 73 | Familial progressive hyperpigmentation | Enrichment | KITLG | 2.23 |
| 74 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 2.23 |
| 75 | Cutaneous mastocytoma | Enrichment | KIT | 2.23 |
| 76 | Typical urticaria pigmentosa | Enrichment | KIT | 2.23 |
| 77 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.23 |
| 78 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.23 |
| 79 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.23 |
| 80 | Acute mast cell leukemia | Enrichment | KIT | 2.23 |
| 81 | Familial progressive hyper- and hypopigmentation | Enrichment | KITLG | 2.23 |
| 82 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.23 |
| 83 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.23 |
| 84 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.23 |
| 85 | Testis seminoma | Enrichment | KIT | 2.23 |
| 86 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, CDKN2A, CEBPA, KIT | 2.12 |
| 87 | Brittle bone disorder | Enrichment | COL1A2, WNT1 | 2.10 |
| 88 | Myeloproliferative syndrome, transient | Enrichment | GATA1 | 1.93 |
| 89 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.93 |
| 90 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.93 |
| 91 | Burkitt lymphoma | Enrichment | MYC | 1.93 |
| 92 | Cyclic neutropenia | Enrichment | ELANE | 1.93 |
| 93 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 1.93 |
| 94 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.93 |
| 95 | Thumb deformity | Enrichment | CREBBP | 1.93 |
| 96 | Neutropenia, severe congenital, x-linked | Enrichment | ELANE | 1.93 |
| 97 | Porphyria, congenital erythropoietic | Enrichment | GATA1 | 1.93 |
| 98 | Mitochondrial phosphate carrier deficiency | Enrichment | SLC25A3 | 1.93 |
| 99 | Piebald trait | Enrichment | KIT | 1.93 |
| 100 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.93 |
| 101 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.93 |
| 102 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | NRAS | 1.93 |
| 103 | Developmental and epileptic encephalopathy 28 | Enrichment | MAF | 1.93 |
| 104 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.93 |
| 105 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | MAF | 1.93 |
| 106 | Waardenburg syndrome, type 2f | Enrichment | KITLG | 1.93 |
| 107 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 1.93 |
| 108 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.93 |
| 109 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 1.93 |
| 110 | Split hand-foot malformation | Enrichment | LEF1 | 1.93 |
| 111 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.93 |
| 112 | Witteveen-kolk syndrome | Enrichment | SIN3A | 1.93 |
| 113 | Angiocentric glioma | Enrichment | MYB | 1.93 |
| 114 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 1.93 |
| 115 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 1.93 |
| 116 | Blepharophimosis - intellectual disability syndrome | Enrichment | SMARCA2 | 1.93 |
| 117 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 1.93 |
| 118 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 1.93 |
| 119 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | Enrichment | SLC25A3 | 1.93 |
| 120 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.93 |
| 121 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 1.93 |
| 122 | B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) | Enrichment | PAX5 | 1.93 |
| 123 | Bladder cancer | Enrichment | CDKN1A, CDKN2A | 1.90 |
| 124 | Prostate cancer | Enrichment | MAD1L1, ZFHX3 | 1.90 |
| 125 | Severe combined immunodeficiency | Enrichment | ADA, RAG2 | 1.79 |
| 126 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | ADA | 1.75 |
| 127 | Jacobsen syndrome | Enrichment | ETS1 | 1.75 |
| 128 | Neutropenia, severe congenital, 1, autosomal dominant | Enrichment | ELANE | 1.75 |
| 129 | Combined cellular and humoral immune defects with granulomas | Enrichment | RAG2 | 1.75 |
| 130 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.75 |
| 131 | Spinocerebellar ataxia 4 | Enrichment | ZFHX3 | 1.75 |
| 132 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.75 |
| 133 | Osteoporosis, juvenile | Enrichment | WNT1 | 1.75 |
| 134 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.75 |
| 135 | Large congenital melanocytic nevus | Enrichment | NRAS | 1.75 |
| 136 | Testicular germ cell cancer | Enrichment | KIT | 1.75 |
| 137 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.75 |
| 138 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.75 |
| 139 | End stage renal disease | Enrichment | GATA3 | 1.75 |
| 140 | Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities | Enrichment | ATP2B1 | 1.75 |
| 141 | Adenoid cystic carcinoma | Enrichment | MYB | 1.75 |
| 142 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 1.75 |
| 143 | Ovarian cancer | Enrichment | CDKN1B, CDKN2A, KIT | 1.66 |
| 144 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.63 |
| 145 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | NRAS | 1.63 |
| 146 | Myeloperoxidase deficiency | Enrichment | MPO | 1.63 |
| 147 | Down syndrome | Enrichment | GATA1 | 1.63 |
| 148 | Nicolaides-baraitser syndrome | Enrichment | SMARCA2 | 1.63 |
| 149 | Infantile sialic acid storage disease | Enrichment | RAG2 | 1.63 |
| 150 | Salla disease | Enrichment | RAG2 | 1.63 |
| 151 | Mantle cell lymphoma | Enrichment | CCND1 | 1.63 |
| 152 | Blepharophimosis | Enrichment | SMARCA2 | 1.63 |
| 153 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | NRAS | 1.63 |
| 154 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | SMARCA2 | 1.63 |
| 155 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 1.63 |
| 156 | Adenosine deaminase deficiency | Enrichment | ADA | 1.63 |
| 157 | Congenital blue dot cataract | Enrichment | MAF | 1.63 |
| 158 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.63 |
| 159 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.63 |
| 160 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.63 |
| 161 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MAT2A, SKI | 1.56 |
| 162 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BIRC3 | 1.54 |
| 163 | Amyloidosis, hereditary systemic 2 | Enrichment | LYZ | 1.54 |
| 164 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.54 |
| 165 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | MAD1L1 | 1.54 |
| 166 | Goldberg-shprintzen syndrome | Enrichment | SKI | 1.54 |
| 167 | Follicular lymphoma | Enrichment | BCL2 | 1.54 |
| 168 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.54 |
| 169 | Acute megakaryocytic leukemia | Enrichment | GATA1 | 1.54 |
| 170 | Autosomal dominant severe congenital neutropenia | Enrichment | ELANE | 1.54 |
| 171 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.54 |
| 172 | Free sialic acid storage disorder | Enrichment | RAG2 | 1.54 |
| 173 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.46 |
| 174 | Li-fraumeni syndrome | Enrichment | CDKN2A | 1.46 |
| 175 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.46 |
| 176 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP | 1.46 |
| 177 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.46 |
| 178 | Pierre robin syndrome | Enrichment | ATP2B1 | 1.46 |
| 179 | Wilms tumor 5 | Enrichment | TRIM28 | 1.46 |
| 180 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP | 1.46 |
| 181 | Granulomatosis with polyangiitis | Enrichment | PRTN3 | 1.46 |
| 182 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.46 |
| 183 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.46 |
| 184 | Hypertrichosis | Enrichment | CREBBP | 1.46 |
| 185 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.46 |
| 186 | Nevus, epidermal | Enrichment | NRAS | 1.39 |
| 187 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.39 |
| 188 | Thyroid cancer, nonmedullary, 2 | Enrichment | NRAS | 1.39 |
| 189 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.39 |
| 190 | Waardenburg syndrome, type 2e | Enrichment | KITLG | 1.39 |
| 191 | Leukemia, chronic myeloid | Enrichment | NRAS | 1.39 |
| 192 | Neutropenia | Enrichment | ELANE | 1.39 |
| 193 | Alzheimer's disease 1 | Enrichment | MPO | 1.39 |
| 194 | Common variable immunodeficiency | Enrichment | RAG2 | 1.39 |
| 195 | Follicular thyroid carcinoma | Enrichment | NRAS | 1.39 |
| 196 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.39 |
| 197 | Myeloma, multiple | Enrichment | CCND1, CREBBP | 1.37 |
| 198 | Melanocytic nevus syndrome, congenital | Enrichment | NRAS | 1.34 |
| 199 | Mosaic variegated aneuploidy syndrome | Enrichment | MAD1L1 | 1.34 |
| 200 | Cataract - microcornea syndrome | Enrichment | MAF | 1.34 |
| 201 | Leukemia, acute lymphoblastic 3 | Enrichment | PAX5 | 1.29 |
| 202 | Cataract 30, multiple types | Enrichment | MAF | 1.24 |
| 203 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.24 |
| 204 | Melanoma | Enrichment | CDKN2A | 1.24 |
| 205 | Autosomal non-syndromic agammaglobulinemia | Enrichment | SPI1 | 1.24 |
| 206 | Primary bone dysplasia | Enrichment | COL1A2 | 1.24 |
| 207 | Immune deficiency disease | Enrichment | RAG2 | 1.20 |
| 208 | Frontotemporal dementia 1 | Enrichment | CSF1R | 1.20 |
| 209 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.20 |
| 210 | Lung non-small cell carcinoma | Enrichment | NRAS | 1.20 |
| 211 | Autism | Enrichment | ATP2B1, CREBBP | 1.17 |
| 212 | Juvenile myelomonocytic leukemia | Enrichment | NRAS | 1.16 |
| 213 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | ATP2B1 | 1.13 |
| 214 | Clubfoot | Enrichment | ATP2B1 | 1.13 |
| 215 | Chromosome 1p36 deletion syndrome | Enrichment | SKI | 1.13 |
| 216 | Periventricular nodular heterotopia | Enrichment | ATP2B1 | 1.10 |
| 217 | Heart disease | Enrichment | CREBBP | 1.10 |
| 218 | Pituitary stalk interruption syndrome | Enrichment | SMARCA2 | 1.10 |
| 219 | Wilms tumor 1 | Enrichment | TRIM28 | 1.07 |
| 220 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.07 |
| 221 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.07 |
| 222 | Rare genetic intellectual disability | Enrichment | CREBBP | 1.07 |
| 223 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.07 |
| 224 | Noonan syndrome and noonan-related syndrome | Enrichment | NRAS | 1.07 |
| 225 | Colorectal cancer | Enrichment | CCND1, NRAS | 1.03 |
| 226 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.02 |
| 227 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 0.97 |
| 228 | Ehlers-danlos syndrome | Enrichment | COL1A2 | 0.97 |
| 229 | Diamond-blackfan anemia 1 | Enrichment | GATA1 | 0.90 |
| 230 | Noonan syndrome 1 | Enrichment | NRAS | 0.90 |
| 231 | Autoinflammatory disease | Enrichment | ELANE | 0.88 |
| 232 | Scoliosis | Enrichment | CREBBP | 0.88 |
| 233 | Pancreatic cancer | Enrichment | CDKN2A | 0.86 |
| 234 | Developmental and epileptic encephalopathy 1 | Enrichment | MAF | 0.86 |
| 235 | Rasopathy | Enrichment | NRAS | 0.85 |
| 236 | Differentiated thyroid carcinoma | Enrichment | NRAS | 0.80 |
| 237 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.76 |
| 238 | Cakut | Enrichment | GATA3 | 0.74 |
| 239 | Diamond-blackfan anemia | Enrichment | GATA1 | 0.72 |
| 240 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.71 |
| 241 | Systemic lupus erythematosus | Enrichment | ETS1 | 0.69 |
| 242 | Benign epilepsy with centrotemporal spikes | Enrichment | MAF | 0.67 |
| 243 | Distal arthrogryposis | Enrichment | MYOD1 | 0.66 |
| 244 | Centralopathic epilepsy | Enrichment | MAF | 0.65 |
| 245 | Gastric cancer | Enrichment | CDKN2A | 0.65 |
| 246 | West syndrome | Enrichment | MAF | 0.64 |
| 247 | Thrombocytopenia | Enrichment | GATA1 | 0.61 |
| 248 | Autosomal dominant non-syndromic intellectual disability | Enrichment | PPP3CA | 0.59 |
| 249 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | KITLG | 0.58 |
| 250 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA | 0.55 |
| 251 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R | 0.54 |
| 252 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.33 |
| 253 | Nervous system disease | Enrichment | CREBBP | 0.33 |
| 254 | Complex neurodevelopmental disorder | Enrichment | ATP2B1 | 0.28 |