| 1 | Coffin-siris syndrome 1 | Enrichment | ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCD1, SMARCE1 | 11.06 |
| 2 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN2A, EZH2, PTCH1, RB1, SMARCA4, SMARCB1, SMARCE1 | 9.37 |
| 3 | Albinism | Enrichment | DCT, GPR143, TYR, TYRP1 | 8.92 |
| 4 | Postaxial polydactyly type b | Enrichment | GLI1, GLI3 | 7.49 |
| 5 | Albinism, ocular, type i | Enrichment | GPR143, TYR, TYRP1 | 6.26 |
| 6 | Waardenburg syndrome, type 2e | Enrichment | MITF, SOX10, TYR | 6.02 |
| 7 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4, SMARCB1 | 5.78 |
| 8 | Meningioma | Enrichment | SMARCB1, SMARCE1, SMO | 5.63 |
| 9 | Rare genetic intellectual disability | Enrichment | ARID1B, CREBBP, EP300 | 5.61 |
| 10 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | ARID1A, ARID1B, BCL11A | 5.52 |
| 11 | Polydactyly, postaxial, type a1 | Enrichment | GLI1, GLI3 | 5.47 |
| 12 | Bryant-li-bhoj neurodevelopmental syndrome 2 | Enrichment | H3-3A, H3-3B | 5.30 |
| 13 | Craniosynostosis | Enrichment | GLI2, GLI3 | 5.21 |
| 14 | Griscelli syndrome, type 3 | Enrichment | MLPH, MYO5A | 5.03 |
| 15 | Melanoma, cutaneous malignant 8 | Enrichment | MITF, TYR | 5.03 |
| 16 | Nicolaides-baraitser syndrome | Enrichment | ARID1B, SMARCA2 | 5.00 |
| 17 | Blepharophimosis | Enrichment | ARID1B, SMARCA2 | 5.00 |
| 18 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | ARID1B, SMARCA2 | 5.00 |
| 19 | Weaver syndrome | Enrichment | EZH2, SUZ12 | 4.82 |
| 20 | Umbilical hernia | Enrichment | ACTL6A, GLI3 | 4.82 |
| 21 | Waardenburg syndrome, type 2a | Enrichment | MITF, SOX10 | 4.55 |
| 22 | Bladder cancer | Enrichment | ARID1A, CDKN2A, RB1 | 4.42 |
| 23 | Autism spectrum disorder | Enrichment | ACTL6B, ARID1B, BCL11B, SMARCB1 | 4.36 |
| 24 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 4.31 |
| 25 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 4.31 |
| 26 | Hypertrichosis | Enrichment | ARID1B, CREBBP | 4.31 |
| 27 | Microcephaly | Enrichment | ACTB, ARID1A, ARID1B, BCL11B | 4.15 |
| 28 | Ovarian cancer | Enrichment | CDKN2A, PTCH1, RB1, SMARCB1 | 4.11 |
| 29 | Atrial heart septal defect | Enrichment | ACTL6A, SMARCA4 | 4.09 |
| 30 | Interatrial communication | Enrichment | ACTL6A, SMARCA4 | 4.09 |
| 31 | Meningioma, familial | Enrichment | SMARCB1, SMARCE1 | 4.04 |
| 32 | Congenital hydrocephalus | Enrichment | PTCH1, SMARCC1 | 3.98 |
| 33 | Waardenburg syndrome, type 4a | Enrichment | MITF, SOX10 | 3.86 |
| 34 | Waardenburg syndrome | Enrichment | MITF, SOX10 | 3.86 |
| 35 | Cowden syndrome 1 | Enrichment | EGFR, LDLR | 3.80 |
| 36 | Waardenburg syndrome, type 1 | Enrichment | MITF, SOX10 | 3.71 |
| 37 | Oculocutaneous albinism | Enrichment | TYR, TYRP1 | 3.71 |
| 38 | Pallister-hall syndrome | Enrichment | GLI3 | 3.66 |
| 39 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 3.66 |
| 40 | Polydactyly, preaxial iv | Enrichment | GLI3 | 3.66 |
| 41 | Polydactyly, preaxial i | Enrichment | GLI1 | 3.66 |
| 42 | Culler-jones syndrome | Enrichment | GLI2 | 3.66 |
| 43 | Polydactyly, postaxial, type a8 | Enrichment | GLI1 | 3.66 |
| 44 | Holoprosencephaly 9 | Enrichment | GLI2 | 3.66 |
| 45 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 3.66 |
| 46 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, RB1 | 3.48 |
| 47 | Corpus callosum, agenesis of | Enrichment | ARID1B, BCL11A | 3.47 |
| 48 | Isolated corpus callosum agenesis | Enrichment | ARID1B, BCL11A | 3.47 |
| 49 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | ARID1B, BCL11A | 3.47 |
| 50 | White-sutton syndrome | Enrichment | GLI2 | 3.35 |
| 51 | Tibial hemimelia | Enrichment | GLI3 | 3.35 |
| 52 | Synpolydactyly | Enrichment | GLI3 | 3.35 |
| 53 | Septopreoptic holoprosencephaly | Enrichment | GLI2, PTCH1 | 3.28 |
| 54 | Midline interhemispheric variant of holoprosencephaly | Enrichment | GLI2, PTCH1 | 3.28 |
| 55 | Microform holoprosencephaly | Enrichment | GLI2, PTCH1 | 3.23 |
| 56 | Lobar holoprosencephaly | Enrichment | GLI2, PTCH1 | 3.23 |
| 57 | Acrocallosal syndrome | Enrichment | GLI3 | 3.18 |
| 58 | Aarskog-scott syndrome | Enrichment | GLI3 | 3.18 |
| 59 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4, CDKN2A | 3.17 |
| 60 | Alobar holoprosencephaly | Enrichment | GLI2, PTCH1 | 3.17 |
| 61 | Semilobar holoprosencephaly | Enrichment | GLI2, PTCH1 | 3.12 |
| 62 | Hypercholesterolemia, familial, 1 | Enrichment | LDLR, SMARCA4 | 3.09 |
| 63 | Familial hypercholesterolemia | Enrichment | LDLR, SMARCA4 | 2.96 |
| 64 | Torticollis | Enrichment | ACTL6A | 2.90 |
| 65 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.90 |
| 66 | Coffin-siris syndrome 11 | Enrichment | SMARCD1 | 2.90 |
| 67 | Hydrocephalus, congenital, 5 | Enrichment | SMARCC1 | 2.90 |
| 68 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.90 |
| 69 | Becker nevus syndrome | Enrichment | ACTB | 2.90 |
| 70 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.90 |
| 71 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.90 |
| 72 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.90 |
| 73 | Blepharophimosis-impaired intellectual development syndrome | Enrichment | SMARCA2 | 2.90 |
| 74 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.90 |
| 75 | Baraitser-winter syndrome | Enrichment | ACTB | 2.90 |
| 76 | Autosomal recessive severe congenital neutropenia | Enrichment | SMARCD2 | 2.90 |
| 77 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.90 |
| 78 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.90 |
| 79 | Coffin-siris syndrome 5 | Enrichment | SMARCE1 | 2.88 |
| 80 | Rhabdoid tumor predisposition syndrome 1 | Enrichment | SMARCB1 | 2.88 |
| 81 | Neurilemmoma | Enrichment | SMARCB1 | 2.88 |
| 82 | Coffin-siris syndrome 3 | Enrichment | SMARCB1 | 2.88 |
| 83 | Facial cleft | Enrichment | SMARCE1 | 2.88 |
| 84 | Arid1b-related disorder | Enrichment | ARID1B | 2.88 |
| 85 | Coffin-siris syndrome 7 | Enrichment | DPF2 | 2.88 |
| 86 | Fetal hemoglobin quantitative trait locus 5 | Enrichment | BCL11A | 2.85 |
| 87 | Immunodeficiency 49, severe combined | Enrichment | BCL11B | 2.85 |
| 88 | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | Enrichment | BCL11B | 2.85 |
| 89 | Intellectual developmental disorder with persistence of fetal hemoglobin | Enrichment | BCL11A | 2.85 |
| 90 | Bcl11a-related intellectual disability | Enrichment | BCL11A | 2.85 |
| 91 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 2.75 |
| 92 | Intellectual developmental disorder with severe speech and ambulation defects | Enrichment | ACTL6B | 2.73 |
| 93 | Chromosome 2q37 deletion syndrome | Enrichment | HDAC4 | 2.73 |
| 94 | Congenital anomalies of kidney and urinary tract 3 | Enrichment | NRIP1 | 2.73 |
| 95 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.73 |
| 96 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | Enrichment | HDAC4 | 2.73 |
| 97 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.73 |
| 98 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.73 |
| 99 | Hirschsprung disease 1 | Enrichment | GLI3, SMO | 2.70 |
| 100 | Ellis-van creveld syndrome | Enrichment | GLI1 | 2.70 |
| 101 | Curry-jones syndrome | Enrichment | SMO | 2.64 |
| 102 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.64 |
| 103 | Schilbach-rott syndrome | Enrichment | PTCH1 | 2.64 |
| 104 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.64 |
| 105 | Imagawa-matsumoto syndrome | Enrichment | SUZ12 | 2.64 |
| 106 | Cohen-gibson syndrome | Enrichment | EED | 2.64 |
| 107 | Bryant-li-bhoj neurodevelopmental syndrome 1 | Enrichment | H3-3A | 2.64 |
| 108 | Trilateral retinoblastoma | Enrichment | RB1 | 2.64 |
| 109 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.64 |
| 110 | Turner syndrome | Enrichment | PTCH1 | 2.64 |
| 111 | Monosomy 9q22.3 | Enrichment | PTCH1 | 2.64 |
| 112 | Lung oat cell carcinoma | Enrichment | RB1 | 2.64 |
| 113 | Alopecia, androgenetic, 1 | Enrichment | SMARCD1 | 2.60 |
| 114 | Specific granule deficiency 1 | Enrichment | SMARCD2 | 2.60 |
| 115 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 2.60 |
| 116 | Specific granule deficiency 2 | Enrichment | SMARCD2 | 2.60 |
| 117 | Coffin-siris syndrome 8 | Enrichment | SMARCC2 | 2.60 |
| 118 | Otosclerosis 12 | Enrichment | SMARCA4 | 2.60 |
| 119 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 2.60 |
| 120 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB | 2.60 |
| 121 | Blepharophimosis - intellectual disability syndrome | Enrichment | SMARCA2 | 2.60 |
| 122 | Coffin-siris syndrome 12 | Enrichment | BICRA | 2.60 |
| 123 | Specific granule deficiency | Enrichment | SMARCD2 | 2.60 |
| 124 | Schwannomatosis 1 | Enrichment | SMARCB1 | 2.58 |
| 125 | Coffin-siris syndrome 6 | Enrichment | ARID2 | 2.58 |
| 126 | Malignant granular cell myoblastoma | Enrichment | BRD7 | 2.58 |
| 127 | Granular cell carcinoma | Enrichment | BRD7 | 2.58 |
| 128 | Trichomegaly | Enrichment | ARID1B | 2.58 |
| 129 | Chromosome 6q24-q25 deletion syndrome | Enrichment | ARID1B | 2.58 |
| 130 | Severe combined immunodeficiency with sensitivity to ionizing radiation | Enrichment | ARID1B | 2.58 |
| 131 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 2.54 |
| 132 | Colorectal cancer | Enrichment | ARID1A, CCND1, EP300 | 2.53 |
| 133 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.51 |
| 134 | Nystagmus 6, congenital, x-linked | Enrichment | GPR143 | 2.51 |
| 135 | Griscelli syndrome, type 2 | Enrichment | RAB27A | 2.51 |
| 136 | Hyperlipidemia, familial combined, 1 | Enrichment | USF1 | 2.51 |
| 137 | Albinism, oculocutaneous, type ib | Enrichment | TYR | 2.51 |
| 138 | Skin/hair/eye pigmentation, variation in, 8 | Enrichment | IRF4 | 2.51 |
| 139 | Heterochromia iridis | Enrichment | MITF | 2.51 |
| 140 | Tietz albinism-deafness syndrome | Enrichment | MITF | 2.51 |
| 141 | Griscelli syndrome, type 1 | Enrichment | MYO5A | 2.51 |
| 142 | Elejalde neuroectodermal melanolysosomal syndrome | Enrichment | MYO5A | 2.51 |
| 143 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.51 |
| 144 | Skin/hair/eye pigmentation, variation in, 3 | Enrichment | TYR | 2.51 |
| 145 | Immunodeficiency 131 | Enrichment | IRF4 | 2.51 |
| 146 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | Enrichment | MITF | 2.51 |
| 147 | Griscelli syndrome | Enrichment | RAB27A | 2.51 |
| 148 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.51 |
| 149 | Minimal pigment oculocutaneous albinism type 1 | Enrichment | TYR | 2.51 |
| 150 | Whipple disease | Enrichment | IRF4 | 2.51 |
| 151 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.51 |
| 152 | Hypopigmentation of the skin | Enrichment | TYR | 2.51 |
| 153 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.51 |
| 154 | Van esch-o'driscoll syndrome | Enrichment | POLA1 | 2.48 |
| 155 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.48 |
| 156 | Pigmentary disorder, reticulate, with systemic manifestations, x-linked | Enrichment | POLA1 | 2.48 |
| 157 | Hyperprolactinemia | Enrichment | PRLR | 2.48 |
| 158 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.48 |
| 159 | Familial hyperprolactinemia | Enrichment | PRLR | 2.48 |
| 160 | Developmental and epileptic encephalopathy 76 | Enrichment | ACTL6B | 2.43 |
| 161 | Thumb deformity | Enrichment | CREBBP | 2.43 |
| 162 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 2.43 |
| 163 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.43 |
| 164 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.43 |
| 165 | Sarcoma, synovial | Enrichment | SS18 | 2.43 |
| 166 | Atypical teratoid rhabdoid tumor | Enrichment | SMARCB1 | 2.40 |
| 167 | Desmoplastic/nodular medulloblastoma | Enrichment | ARID2 | 2.40 |
| 168 | Schwannomatosis | Enrichment | SMARCB1 | 2.40 |
| 169 | Nail disorder, nonsyndromic congenital, 9 | Enrichment | ARID1B | 2.40 |
| 170 | Coffin-siris syndrome 2 | Enrichment | ARID1A | 2.40 |
| 171 | Periventricular leukomalacia | Enrichment | ARID1A | 2.40 |
| 172 | Gastric cancer | Enrichment | CDK4, CDKN2A | 2.37 |
| 173 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.34 |
| 174 | Pallister-hall-like syndrome | Enrichment | SMO | 2.34 |
| 175 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.34 |
| 176 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.34 |
| 177 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.34 |
| 178 | Familial retinoblastoma | Enrichment | RB1 | 2.34 |
| 179 | Myeloma, multiple | Enrichment | CREBBP, HDAC4 | 2.33 |
| 180 | Aminoacylase 1 deficiency | Enrichment | ACTB | 2.30 |
| 181 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 2.30 |
| 182 | Full schwannomatosis | Enrichment | SMARCB1 | 2.28 |
| 183 | Clear cell papillary renal cell carcinoma | Enrichment | PBRM1 | 2.28 |
| 184 | Estrogen resistance | Enrichment | ESR1 | 2.26 |
| 185 | Tethered spinal cord syndrome | Enrichment | CREBBP | 2.26 |
| 186 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 2.26 |
| 187 | Migraine without aura | Enrichment | ESR1 | 2.26 |
| 188 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.21 |
| 189 | Albinism, oculocutaneous, type iii | Enrichment | TYRP1 | 2.21 |
| 190 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.21 |
| 191 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.21 |
| 192 | Waardenburg syndrome, type 4c | Enrichment | SOX10 | 2.21 |
| 193 | Albinism, oculocutaneous, type ia | Enrichment | TYR | 2.21 |
| 194 | Skin/hair/eye pigmentation, variation in, 11 | Enrichment | TYRP1 | 2.21 |
| 195 | Oculocutaneous albinism, type viii | Enrichment | DCT | 2.21 |
| 196 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.21 |
| 197 | Split hand-foot malformation | Enrichment | LEF1 | 2.21 |
| 198 | Papillary renal cell carcinoma | Enrichment | MITF | 2.21 |
| 199 | Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease | Enrichment | SOX10 | 2.21 |
| 200 | Esotropia | Enrichment | TFAP2A | 2.21 |
| 201 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.21 |
| 202 | Teratoma | Enrichment | CTNNB1 | 2.21 |
| 203 | Lens subluxation | Enrichment | TFAP2A | 2.21 |
| 204 | Developmental and epileptic encephalopathy 50 | Enrichment | CAD | 2.18 |
| 205 | Hyperlipoproteinemia, type iii | Enrichment | LDLR | 2.18 |
| 206 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | Enrichment | PRIM1 | 2.18 |
| 207 | Dyskeratosis congenita, digenic | Enrichment | TYMS | 2.18 |
| 208 | Retinoblastoma | Enrichment | RB1 | 2.16 |
| 209 | Osteogenic sarcoma | Enrichment | RB1 | 2.16 |
| 210 | Holoprosencephaly 7 | Enrichment | PTCH1 | 2.16 |
| 211 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.16 |
| 212 | Hypotrichosis 8 | Enrichment | RB1 | 2.16 |
| 213 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 2.16 |
| 214 | Squamous cell carcinoma | Enrichment | RB1 | 2.16 |
| 215 | Bone osteosarcoma | Enrichment | RB1 | 2.16 |
| 216 | Well-differentiated liposarcoma | Enrichment | CDK4 | 2.16 |
| 217 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | Enrichment | BCL11A | 2.16 |
| 218 | Lipodystrophy, congenital generalized, type 2 | Enrichment | ACTL6B | 2.13 |
| 219 | Congenital generalized lipodystrophy | Enrichment | FOS | 2.13 |
| 220 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 2.13 |
| 221 | Inguinal hernia | Enrichment | ACTL6A | 2.13 |
| 222 | Autism | Enrichment | ACTL6B, CREBBP | 2.11 |
| 223 | Clear cell renal cell carcinoma | Enrichment | PBRM1 | 2.10 |
| 224 | Wiedemann-steiner syndrome | Enrichment | ARID1B | 2.10 |
| 225 | Breast cancer | Enrichment | ESR1, JUN | 2.08 |
| 226 | Polydactyly, preaxial ii | Enrichment | PTCH1 | 2.04 |
| 227 | Small cell cancer of the lung | Enrichment | RB1 | 2.04 |
| 228 | Lynch syndrome 4 | Enrichment | RB1 | 2.04 |
| 229 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 2.04 |
| 230 | Histiocytoid hemangioma | Enrichment | FOS | 2.04 |
| 231 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.03 |
| 232 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.03 |
| 233 | Anus, imperforate | Enrichment | CTNNB1 | 2.03 |
| 234 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.03 |
| 235 | Desmoid tumor | Enrichment | CTNNB1 | 2.03 |
| 236 | Melanoma of soft tissue | Enrichment | CREB1 | 2.03 |
| 237 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | ADA | 2.00 |
| 238 | Hypercholesterolemia, familial, 2 | Enrichment | LDLR | 2.00 |
| 239 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | LDLR | 2.00 |
| 240 | Partington syndrome | Enrichment | POLA1 | 2.00 |
| 241 | Hypercholesterolemia, familial, 4 | Enrichment | LDLR | 2.00 |
| 242 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.00 |
| 243 | Syndromic x-linked intellectual disability najm type | Enrichment | LDLR | 2.00 |
| 244 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.00 |
| 245 | Enchondromatosis | Enrichment | HIF1A | 2.00 |
| 246 | Gastroesophageal reflux | Enrichment | ACTL6A | 2.00 |
| 247 | Neuroblastoma | Enrichment | SMARCA4 | 2.00 |
| 248 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.96 |
| 249 | Ventricular septal defect | Enrichment | SMARCA4 | 1.95 |
| 250 | Endometrial stromal sarcoma | Enrichment | SUZ12 | 1.94 |
| 251 | Branchiooculofacial syndrome | Enrichment | TFAP2A | 1.91 |
| 252 | Pilomatrixoma | Enrichment | CTNNB1 | 1.91 |
| 253 | Alazami syndrome | Enrichment | CTNNB1 | 1.91 |
| 254 | Craniopharyngioma | Enrichment | CTNNB1 | 1.91 |
| 255 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GLI2 | 1.91 |
| 256 | Mantle cell lymphoma | Enrichment | CCND1 | 1.88 |
| 257 | Adenosine deaminase deficiency | Enrichment | ADA | 1.88 |
| 258 | Li-fraumeni syndrome | Enrichment | CDKN2A | 1.87 |
| 259 | Basal cell nevus syndrome 1 | Enrichment | PTCH1 | 1.87 |
| 260 | Basal cell carcinoma 1 | Enrichment | PTCH1 | 1.87 |
| 261 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.87 |
| 262 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.87 |
| 263 | Combined immunodeficiency | Enrichment | BCL11B | 1.82 |
| 264 | Combined t cell and b cell immunodeficiency | Enrichment | BCL11B | 1.82 |
| 265 | Combined t and b cell immunodeficiency | Enrichment | BCL11B | 1.82 |
| 266 | Hyperlipidemia, familial combined, 3 | Enrichment | USF1 | 1.81 |
| 267 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.81 |
| 268 | Albinism, oculocutaneous, type ii | Enrichment | TYRP1 | 1.81 |
| 269 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | SOX10 | 1.81 |
| 270 | Amblyopia | Enrichment | TFAP2A | 1.81 |
| 271 | Septooptic dysplasia | Enrichment | ARID1A | 1.80 |
| 272 | Overgrowth syndrome | Enrichment | PTCH1 | 1.80 |
| 273 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.80 |
| 274 | Charge syndrome | Enrichment | EP300 | 1.78 |
| 275 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.78 |
| 276 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.78 |
| 277 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | ADA | 1.78 |
| 278 | Nk-cell enteropathy | Enrichment | SMARCB1 | 1.77 |
| 279 | Pituitary stalk interruption syndrome | Enrichment | SMARCA2 | 1.76 |
| 280 | Glioma susceptibility 1 | Enrichment | H3-3A | 1.74 |
| 281 | Branchiootorenal syndrome 1 | Enrichment | TFAP2A | 1.73 |
| 282 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.73 |
| 283 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.73 |
| 284 | Renal cell carcinoma, nonpapillary | Enrichment | PBRM1 | 1.70 |
| 285 | Lipid metabolism disorder | Enrichment | LDLR | 1.70 |
| 286 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.70 |
| 287 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.68 |
| 288 | Branchiootorenal syndrome | Enrichment | TFAP2A | 1.67 |
| 289 | Gallbladder cancer | Enrichment | CTNNB1 | 1.67 |
| 290 | Complex neurodevelopmental disorder | Enrichment | ACTL6A, ACTL6B | 1.66 |
| 291 | Melanoma | Enrichment | CDKN2A | 1.65 |
| 292 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.64 |
| 293 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.64 |
| 294 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.61 |
| 295 | Rare genetic deafness | Enrichment | MITF, SOX10 | 1.61 |
| 296 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.60 |
| 297 | Heart disease | Enrichment | CREBBP | 1.59 |
| 298 | Homozygous familial hypercholesterolemia | Enrichment | LDLR | 1.58 |
| 299 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.56 |
| 300 | Coronary heart disease 5 | Enrichment | LDLR | 1.53 |
| 301 | Cat eye syndrome | Enrichment | TFAP2A | 1.52 |
| 302 | Optic nerve disease | Enrichment | TYR | 1.52 |
| 303 | Medulloblastoma | Enrichment | PTCH1 | 1.50 |
| 304 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.50 |
| 305 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.49 |
| 306 | Omenn syndrome | Enrichment | ADA | 1.49 |
| 307 | Hydrops fetalis, nonimmune | Enrichment | ARID1A | 1.47 |
| 308 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 1.46 |
| 309 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.44 |
| 310 | Rhabdomyosarcoma | Enrichment | PTCH1 | 1.44 |
| 311 | Epicanthus | Enrichment | TFAP2A | 1.44 |
| 312 | Myocardial infarction | Enrichment | ESR1 | 1.40 |
| 313 | Non-immune hydrops fetalis | Enrichment | ARID1A | 1.39 |
| 314 | Acute promyelocytic leukemia | Enrichment | RARA | 1.37 |
| 315 | Scoliosis | Enrichment | CREBBP | 1.36 |
| 316 | Macs syndrome | Enrichment | PTCH1 | 1.35 |
| 317 | Myopia | Enrichment | TYR | 1.34 |
| 318 | Seckel syndrome | Enrichment | PRIM1 | 1.34 |
| 319 | Cerebral palsy | Enrichment | SMARCA4 | 1.32 |
| 320 | Microphthalmia | Enrichment | PTCH1 | 1.31 |
| 321 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.29 |
| 322 | Polycystic liver disease | Enrichment | CTNNB1 | 1.29 |
| 323 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.29 |
| 324 | Gliosarcoma | Enrichment | EGFR | 1.29 |
| 325 | Giant cell glioblastoma | Enrichment | EGFR | 1.26 |
| 326 | Pancreatic cancer | Enrichment | CDKN2A | 1.25 |
| 327 | Cakut | Enrichment | NRIP1 | 1.22 |
| 328 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.21 |
| 329 | Dyskeratosis congenita | Enrichment | TYMS | 1.21 |
| 330 | Hepatoblastoma | Enrichment | CTNNB1 | 1.20 |
| 331 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.18 |
| 332 | Multisystem inflammatory syndrome in children | Enrichment | RAB27A | 1.18 |
| 333 | Skin disease | Enrichment | TYR | 1.18 |
| 334 | Kallmann syndrome | Enrichment | SOX10 | 1.16 |
| 335 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 1.15 |
| 336 | Ear malformation | Enrichment | MITF | 1.14 |
| 337 | Autoinflammatory disease | Enrichment | RAB27A | 1.14 |
| 338 | Hereditary breast carcinoma | Enrichment | ESR1 | 1.11 |
| 339 | Developmental and epileptic encephalopathy 1 | Enrichment | CAD | 1.10 |
| 340 | Strabismus | Enrichment | TYR | 1.09 |
| 341 | Undetermined early-onset epileptic encephalopathy | Enrichment | ACTL6B | 1.01 |
| 342 | Lung cancer | Enrichment | EGFR | 1.00 |
| 343 | Dystonia | Enrichment | MYO5A | 0.99 |
| 344 | Eye disease | Enrichment | TYR | 0.99 |
| 345 | Severe combined immunodeficiency | Enrichment | ADA | 0.98 |
| 346 | Non-syndromic genetic deafness | Enrichment | MITF | 0.98 |
| 347 | Hereditary breast ovarian cancer syndrome | Enrichment | PTCH1 | 0.93 |
| 348 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.91 |
| 349 | Nonsyndromic hearing loss | Enrichment | MITF | 0.91 |
| 350 | Hypertelorism | Enrichment | TFAP2A | 0.83 |
| 351 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MITF | 0.83 |
| 352 | Congenital nervous system abnormality | Enrichment | CREBBP | 0.75 |
| 353 | Nervous system disease | Enrichment | CREBBP | 0.75 |
| 354 | Primary ovarian insufficiency | Enrichment | PRLR | 0.75 |