| 1 | Colorectal cancer | Enrichment | BRAF, CCND1, CDH1, ERBB2, FGFR3, NRAS, PIK3R1, SRC, TP53 | 16.00 |
| 2 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, ERBB2, KRAS, RB1, TP53 | 16.00 |
| 3 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 16.00 |
| 4 | Lip and oral cavity carcinoma | Enrichment | BRAF, CDKN2A, EGFR, HRAS, RB1, TP53 | 16.00 |
| 5 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 11.81 |
| 6 | Bladder cancer | Enrichment | CDKN1A, CDKN2A, EGFR, ERBB2, FGFR3, HRAS, KRAS, RB1, TP53 | 11.51 |
| 7 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 11.09 |
| 8 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS | 10.94 |
| 9 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.07 |
| 10 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.07 |
| 11 | Lung squamous cell carcinoma | Enrichment | CDKN2A, EGFR, FGFR3, KRAS | 9.01 |
| 12 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS | 8.64 |
| 13 | Gastric cancer | Enrichment | CDH1, CDK4, CDKN2A, ERBB2, KRAS, TP53 | 8.60 |
| 14 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 8.34 |
| 15 | Myeloma, multiple | Enrichment | BRAF, CCND1, FGFR3, KRAS, PIK3R2, TP53 | 7.89 |
| 16 | Ovarian cancer | Enrichment | CDH1, CDKN2A, EGFR, ERBB2, KRAS, RB1, TP53 | 7.81 |
| 17 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.62 |
| 18 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 7.02 |
| 19 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2, TP53 | 6.33 |
| 20 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 6.08 |
| 21 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 6.08 |
| 22 | Gallbladder cancer | Enrichment | BRAF, KRAS, TP53 | 6.08 |
| 23 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 6.08 |
| 24 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 6.08 |
| 25 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 5.84 |
| 26 | Lung cancer | Enrichment | BRAF, EGFR, ERBB2, KRAS | 5.66 |
| 27 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CDK4, CDKN2A, EGFR, RB1, TP53 | 5.65 |
| 28 | Cervical cancer | Enrichment | FGFR3, TP53 | 5.07 |
| 29 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 5.07 |
| 30 | Cervix carcinoma | Enrichment | FGFR3, TP53 | 5.07 |
| 31 | Gliosarcoma | Enrichment | EGFR, FGFR3, TP53 | 4.89 |
| 32 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF, CDK4, CDKN2A | 4.80 |
| 33 | Giant cell glioblastoma | Enrichment | EGFR, FGFR3, TP53 | 4.80 |
| 34 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, KRAS | 4.65 |
| 35 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 4.60 |
| 36 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 4.60 |
| 37 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.60 |
| 38 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 4.60 |
| 39 | Bone osteosarcoma | Enrichment | RB1, TP53 | 4.60 |
| 40 | Spermatocytoma | Enrichment | FGFR3, HRAS | 4.60 |
| 41 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.60 |
| 42 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, KRAS | 4.30 |
| 43 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 4.30 |
| 44 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 4.30 |
| 45 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 4.30 |
| 46 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 4.30 |
| 47 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.30 |
| 48 | Pancreatic cancer | Enrichment | CDKN2A, KRAS, TP53 | 4.28 |
| 49 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 3.90 |
| 50 | Breast adenocarcinoma | Enrichment | KRAS, TP53 | 3.90 |
| 51 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, TP53 | 3.75 |
| 52 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1 | 3.75 |
| 53 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 3.75 |
| 54 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.75 |
| 55 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS, TP53 | 3.66 |
| 56 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.63 |
| 57 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 3.63 |
| 58 | Hereditary breast carcinoma | Enrichment | CDH1, KRAS, TP53 | 3.54 |
| 59 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 3.52 |
| 60 | Adult hepatocellular carcinoma | Enrichment | EGF, TP53 | 3.52 |
| 61 | Primary hyperaldosteronism | Enrichment | BRAF, TP53 | 3.52 |
| 62 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 3.42 |
| 63 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 3.42 |
| 64 | Melanoma | Enrichment | BRAF, CDKN2A | 3.42 |
| 65 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 3.26 |
| 66 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3, UPK3A | 3.26 |
| 67 | Rhabdomyosarcoma | Enrichment | HRAS, TP53 | 3.00 |
| 68 | Breast cancer | Enrichment | CDH1, KRAS, TP53 | 2.86 |
| 69 | Diffuse large b-cell lymphoma | Enrichment | BRAF, TP53 | 2.85 |
| 70 | Hepatoblastoma | Enrichment | FGFR3, TP53 | 2.76 |
| 71 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, MYC | 2.69 |
| 72 | Hypochondroplasia | Enrichment | FGFR3 | 2.53 |
| 73 | Paget disease, extramammary | Enrichment | ERBB2 | 2.53 |
| 74 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.53 |
| 75 | Oculoectodermal syndrome | Enrichment | KRAS | 2.53 |
| 76 | Muenke syndrome | Enrichment | FGFR3 | 2.53 |
| 77 | Pallister-killian syndrome | Enrichment | ARAF | 2.53 |
| 78 | Noonan syndrome 5 | Enrichment | RAF1 | 2.53 |
| 79 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.53 |
| 80 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.53 |
| 81 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.53 |
| 82 | Noonan syndrome 7 | Enrichment | BRAF | 2.53 |
| 83 | Leopard syndrome 3 | Enrichment | BRAF | 2.53 |
| 84 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.53 |
| 85 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.53 |
| 86 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.53 |
| 87 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.53 |
| 88 | Noonan syndrome 6 | Enrichment | NRAS | 2.53 |
| 89 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.53 |
| 90 | Accelerated tumor formation | Enrichment | MDM2 | 2.53 |
| 91 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.53 |
| 92 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.53 |
| 93 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.53 |
| 94 | Short syndrome | Enrichment | PIK3R1 | 2.53 |
| 95 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.53 |
| 96 | Papilloma of choroid plexus | Enrichment | TP53 | 2.53 |
| 97 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.53 |
| 98 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.53 |
| 99 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.53 |
| 100 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.53 |
| 101 | Lymphangioma | Enrichment | BRAF | 2.53 |
| 102 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.53 |
| 103 | Phace association | Enrichment | BRAF | 2.53 |
| 104 | Melorheostosis | Enrichment | MAP2K1 | 2.53 |
| 105 | Leopard syndrome 2 | Enrichment | RAF1 | 2.53 |
| 106 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.53 |
| 107 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.53 |
| 108 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.53 |
| 109 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.53 |
| 110 | Ductal carcinoma in situ | Enrichment | TP53 | 2.53 |
| 111 | Thrombocytopenia 6 | Enrichment | SRC | 2.53 |
| 112 | Trigonitis | Enrichment | RAF1 | 2.53 |
| 113 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.53 |
| 114 | Trilateral retinoblastoma | Enrichment | RB1 | 2.53 |
| 115 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.53 |
| 116 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.53 |
| 117 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.53 |
| 118 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.53 |
| 119 | Breast lobular carcinoma | Enrichment | CDH1 | 2.53 |
| 120 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.53 |
| 121 | Choroid plexus cancer | Enrichment | TP53 | 2.53 |
| 122 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.53 |
| 123 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.53 |
| 124 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.53 |
| 125 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.53 |
| 126 | Ganglioglioma | Enrichment | BRAF | 2.53 |
| 127 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.53 |
| 128 | Phace syndrome | Enrichment | BRAF | 2.53 |
| 129 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.53 |
| 130 | Classic hairy cell leukemia | Enrichment | BRAF | 2.53 |
| 131 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.53 |
| 132 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.53 |
| 133 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.53 |
| 134 | Lung oat cell carcinoma | Enrichment | RB1 | 2.53 |
| 135 | Prostate cancer | Enrichment | CDH1, TP53 | 2.49 |
| 136 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 2.43 |
| 137 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 2.23 |
| 138 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.23 |
| 139 | Burkitt lymphoma | Enrichment | MYC | 2.23 |
| 140 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.23 |
| 141 | Costello syndrome | Enrichment | HRAS | 2.23 |
| 142 | Pulmonic stenosis | Enrichment | BRAF | 2.23 |
| 143 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.23 |
| 144 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.23 |
| 145 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.23 |
| 146 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.23 |
| 147 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.23 |
| 148 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 2.23 |
| 149 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.23 |
| 150 | Congenital fibrosarcoma | Enrichment | TP53 | 2.23 |
| 151 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.23 |
| 152 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.23 |
| 153 | Sarcoma | Enrichment | TP53 | 2.23 |
| 154 | Hodgkin's lymphoma | Enrichment | TP53 | 2.23 |
| 155 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.23 |
| 156 | Familial retinoblastoma | Enrichment | RB1 | 2.23 |
| 157 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.23 |
| 158 | Tafro syndrome | Enrichment | MAP2K2 | 2.23 |
| 159 | Wooly hair nevus | Enrichment | HRAS | 2.23 |
| 160 | Crouzon syndrome | Enrichment | FGFR3 | 2.05 |
| 161 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR3 | 2.05 |
| 162 | Achondroplasia | Enrichment | FGFR3 | 2.05 |
| 163 | Larsen syndrome | Enrichment | FGFR3 | 2.05 |
| 164 | Retinoblastoma | Enrichment | RB1 | 2.05 |
| 165 | Ataxia-telangiectasia | Enrichment | BRAF | 2.05 |
| 166 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 2.05 |
| 167 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.05 |
| 168 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 2.05 |
| 169 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.05 |
| 170 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.05 |
| 171 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.05 |
| 172 | Hypotrichosis 8 | Enrichment | RB1 | 2.05 |
| 173 | Tethered spinal cord syndrome | Enrichment | BRAF | 2.05 |
| 174 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.05 |
| 175 | Hamartoma | Enrichment | FGFR3 | 2.05 |
| 176 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.05 |
| 177 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.05 |
| 178 | Anaplastic astrocytoma | Enrichment | TP53 | 2.05 |
| 179 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.05 |
| 180 | Adenocarcinoma | Enrichment | TP53 | 2.05 |
| 181 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.05 |
| 182 | Testicular cancer | Enrichment | FGFR3 | 2.05 |
| 183 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, TP53 | 1.94 |
| 184 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.93 |
| 185 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3R2 | 1.93 |
| 186 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.93 |
| 187 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.93 |
| 188 | Saethre-chotzen syndrome | Enrichment | FGFR3 | 1.93 |
| 189 | Barrett esophagus | Enrichment | ERBB2 | 1.93 |
| 190 | Lynch syndrome 4 | Enrichment | RB1 | 1.93 |
| 191 | Mantle cell lymphoma | Enrichment | CCND1 | 1.93 |
| 192 | Ciliary dyskinesia, primary, 22 | Enrichment | RASSF1 | 1.93 |
| 193 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.93 |
| 194 | Craniopharyngioma | Enrichment | BRAF | 1.93 |
| 195 | Pilocytic astrocytoma | Enrichment | KRAS | 1.93 |
| 196 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.93 |
| 197 | Epidermolytic nevus | Enrichment | HRAS | 1.93 |
| 198 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.93 |
| 199 | Hemifacial hyperplasia | Enrichment | FGFR3 | 1.83 |
| 200 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.83 |
| 201 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.83 |
| 202 | Lymphoma | Enrichment | TP53 | 1.83 |
| 203 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.83 |
| 204 | Cowden syndrome 1 | Enrichment | EGFR | 1.76 |
| 205 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.76 |
| 206 | Wilms tumor 5 | Enrichment | BRAF | 1.76 |
| 207 | Mitochondrial dna depletion syndrome 1 | Enrichment | TYMP | 1.76 |
| 208 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.76 |
| 209 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.76 |
| 210 | Esophageal cancer | Enrichment | TP53 | 1.69 |
| 211 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.69 |
| 212 | Myelofibrosis | Enrichment | SRC | 1.69 |
| 213 | Essential thrombocythemia | Enrichment | TP53 | 1.69 |
| 214 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.69 |
| 215 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.63 |
| 216 | Mitochondrial dna depletion syndrome 4b | Enrichment | TYMP | 1.63 |
| 217 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.58 |
| 218 | Ventricular septal defect | Enrichment | BRAF | 1.58 |
| 219 | Mitochondrial neurogastrointestinal encephalomyopathy | Enrichment | TYMP | 1.58 |
| 220 | Familial colorectal cancer | Enrichment | TP53 | 1.54 |
| 221 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.54 |
| 222 | Primary bone dysplasia | Enrichment | FGFR3 | 1.54 |
| 223 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.50 |
| 224 | Myelodysplastic syndrome | Enrichment | TP53 | 1.50 |
| 225 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.50 |
| 226 | Specific learning disability | Enrichment | MAPK1 | 1.50 |
| 227 | Protein-deficiency anemia | Enrichment | NRAS | 1.42 |
| 228 | Osteoporosis | Enrichment | SRC | 1.39 |
| 229 | Cleft lip/palate | Enrichment | CDH1 | 1.39 |
| 230 | Wilms tumor 1 | Enrichment | BRAF | 1.36 |
| 231 | Lynch syndrome | Enrichment | KRAS | 1.36 |
| 232 | Dandy-walker syndrome | Enrichment | BRAF | 1.31 |
| 233 | Heart, malformation of | Enrichment | MAPK1 | 1.29 |
| 234 | Craniosynostosis | Enrichment | FGFR3 | 1.24 |
| 235 | Endometrial cancer | Enrichment | CDH1 | 1.22 |
| 236 | Hepatocellular carcinoma | Enrichment | TP53 | 1.20 |
| 237 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.18 |
| 238 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.16 |
| 239 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 1.13 |
| 240 | Hirschsprung disease 1 | Enrichment | ERBB2 | 1.09 |
| 241 | Connective tissue disease | Enrichment | FGFR3 | 1.04 |
| 242 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.03 |
| 243 | Left ventricular noncompaction | Enrichment | RAF1 | 1.01 |
| 244 | Diamond-blackfan anemia | Enrichment | TP53 | 1.00 |
| 245 | Thrombocytopenia | Enrichment | SRC | 0.88 |
| 246 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.84 |
| 247 | Primary ovarian insufficiency | Enrichment | THBS1 | 0.80 |
| 248 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.57 |
| 249 | Nervous system disease | Enrichment | FGFR3 | 0.57 |
| 250 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.56 |
| 251 | Microcephaly | Enrichment | MAPK1 | 0.51 |