| 1 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BAX | 4.33 |
| 2 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2 | 3.64 |
| 3 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, CDKN2A | 3.49 |
| 4 | Isolated split hand-split foot malformation | Enrichment | BTRC, TP63 | 3.37 |
| 5 | Lip and oral cavity carcinoma | Enrichment | ABL1, CDKN2A | 3.00 |
| 6 | Multiple sclerosis | Enrichment | DST, ITGB4 | 2.86 |
| 7 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, CDKN2A | 2.43 |
| 8 | Holoprosencephaly 3 | Enrichment | SHH | 2.40 |
| 9 | Rapp-hodgkin syndrome | Enrichment | TP63 | 2.40 |
| 10 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 2.40 |
| 11 | Rhabdomyosarcoma, embryonal, 2 | Enrichment | DICER1 | 2.40 |
| 12 | Split-hand/foot malformation 4 | Enrichment | TP63 | 2.40 |
| 13 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 2.40 |
| 14 | Charcot-marie-tooth disease, demyelinating, type 1d | Enrichment | EGR2 | 2.40 |
| 15 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.40 |
| 16 | Adult syndrome | Enrichment | TP63 | 2.40 |
| 17 | Fetal encasement syndrome | Enrichment | CHUK | 2.40 |
| 18 | Accelerated tumor formation | Enrichment | MDM2 | 2.40 |
| 19 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.40 |
| 20 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.40 |
| 21 | Immunodeficiency 15b | Enrichment | IKBKB | 2.40 |
| 22 | Immunodeficiency 15a | Enrichment | IKBKB | 2.40 |
| 23 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.40 |
| 24 | Hyperemesis gravidarum | Enrichment | GDF15 | 2.40 |
| 25 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 2.40 |
| 26 | Dicer1 syndrome | Enrichment | DICER1 | 2.40 |
| 27 | Limb-mammary syndrome | Enrichment | TP63 | 2.40 |
| 28 | Pleuropulmonary blastoma | Enrichment | DICER1 | 2.40 |
| 29 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | Enrichment | DICER1 | 2.40 |
| 30 | Autoimmune disease, multisystem, with facial dysmorphism | Enrichment | ITCH | 2.40 |
| 31 | Premature ovarian failure 21 | Enrichment | TP63 | 2.40 |
| 32 | Olmsted syndrome 2 | Enrichment | PERP | 2.40 |
| 33 | Orofacial cleft 8 | Enrichment | TP63 | 2.40 |
| 34 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.40 |
| 35 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.40 |
| 36 | Malignant sertoli-leydig cell tumor of ovary | Enrichment | DICER1 | 2.40 |
| 37 | Erythrokeratodermia variabilis et progressiva 7 | Enrichment | PERP | 2.40 |
| 38 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.40 |
| 39 | Syndromic multisystem autoimmune disease due to itch deficiency | Enrichment | ITCH | 2.40 |
| 40 | Rickets | Enrichment | VDR | 2.40 |
| 41 | Charcot-marie-tooth disease type 1d | Enrichment | EGR2 | 2.40 |
| 42 | Tp63-related disorders | Enrichment | TP63 | 2.40 |
| 43 | Supratentorial primitive neuroectodermal tumor | Enrichment | DICER1 | 2.40 |
| 44 | Gynandroblastoma | Enrichment | DICER1 | 2.40 |
| 45 | Dicer1 tumor predisposition | Enrichment | DICER1 | 2.40 |
| 46 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.40 |
| 47 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | Enrichment | FDXR | 2.40 |
| 48 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.40 |
| 49 | Bladder cancer | Enrichment | CDKN1A, CDKN2A | 2.23 |
| 50 | Severe combined immunodeficiency | Enrichment | ADA, IKBKB | 2.12 |
| 51 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.10 |
| 52 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 2.10 |
| 53 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | Enrichment | EGR2 | 2.10 |
| 54 | Solitary median maxillary central incisor | Enrichment | SHH | 2.10 |
| 55 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.10 |
| 56 | Goiter, multinodular 1, with or without sertoli-leydig cell tumors | Enrichment | DICER1 | 2.10 |
| 57 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.10 |
| 58 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.10 |
| 59 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.10 |
| 60 | Vertebral anomalies and variable endocrine and t-cell dysfunction | Enrichment | DICER1 | 2.10 |
| 61 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.10 |
| 62 | Bladder exstrophy | Enrichment | TP63 | 2.10 |
| 63 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.10 |
| 64 | Pineoblastoma | Enrichment | DICER1 | 2.10 |
| 65 | Fissured tongue | Enrichment | TP63 | 2.10 |
| 66 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.10 |
| 67 | Malignant granulosa cell tumor of the ovary | Enrichment | DICER1 | 2.10 |
| 68 | Isolated radial hemimelia | Enrichment | SHH | 2.10 |
| 69 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | ADA | 1.92 |
| 70 | Alagille syndrome 1 | Enrichment | JAG1 | 1.92 |
| 71 | Syndactyly, type iv | Enrichment | SHH | 1.92 |
| 72 | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency | Enrichment | DST | 1.92 |
| 73 | Auditory neuropathy and optic atrophy | Enrichment | FDXR | 1.92 |
| 74 | Multiple mitochondrial dysfunctions syndrome 9b | Enrichment | FDXR | 1.92 |
| 75 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.92 |
| 76 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Enrichment | PERP | 1.92 |
| 77 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 1.92 |
| 78 | Charcot-marie-tooth disease type 1 | Enrichment | EGR2 | 1.92 |
| 79 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.92 |
| 80 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.92 |
| 81 | Polydactyly, preaxial ii | Enrichment | SHH | 1.80 |
| 82 | Schizencephaly | Enrichment | SHH | 1.80 |
| 83 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.80 |
| 84 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.80 |
| 85 | Neuropathy, hereditary sensory and autonomic, type vi | Enrichment | DST | 1.80 |
| 86 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.80 |
| 87 | Embryonal rhabdomyosarcoma | Enrichment | DICER1 | 1.80 |
| 88 | Adenosine deaminase deficiency | Enrichment | ADA | 1.80 |
| 89 | Middle aortic syndrome | Enrichment | JAG1 | 1.80 |
| 90 | Cleft lip and alveolus | Enrichment | TP63 | 1.80 |
| 91 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | EGR2 | 1.70 |
| 92 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.70 |
| 93 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | ADA | 1.70 |
| 94 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.70 |
| 95 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.70 |
| 96 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.70 |
| 97 | Cleft upper lip | Enrichment | TP63 | 1.70 |
| 98 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.63 |
| 99 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.63 |
| 100 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGB4 | 1.63 |
| 101 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.63 |
| 102 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.63 |
| 103 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.63 |
| 104 | Clear cell renal cell carcinoma | Enrichment | OGG1 | 1.63 |
| 105 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.63 |
| 106 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.56 |
| 107 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.56 |
| 108 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.56 |
| 109 | Hereditary clear cell renal cell carcinoma | Enrichment | OGG1 | 1.56 |
| 110 | Moyamoya angiopathy | Enrichment | ABL1 | 1.56 |
| 111 | Charge syndrome | Enrichment | EP300 | 1.45 |
| 112 | Junctional epidermolysis bullosa | Enrichment | ITGB4 | 1.45 |
| 113 | Omenn syndrome | Enrichment | ADA | 1.41 |
| 114 | Melanoma | Enrichment | CDKN2A | 1.41 |
| 115 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.37 |
| 116 | Septooptic dysplasia | Enrichment | SHH | 1.33 |
| 117 | Colorectal cancer | Enrichment | BAX, EP300 | 1.33 |
| 118 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 1.30 |
| 119 | Acute promyelocytic leukemia | Enrichment | PML | 1.30 |
| 120 | Premature menopause | Enrichment | TP63 | 1.30 |
| 121 | Heart disease | Enrichment | ABL1 | 1.26 |
| 122 | Cleft lip/palate | Enrichment | TP63 | 1.26 |
| 123 | Renal cell carcinoma, nonpapillary | Enrichment | OGG1 | 1.24 |
| 124 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.24 |
| 125 | Rare genetic intellectual disability | Enrichment | EP300 | 1.24 |
| 126 | Septopreoptic holoprosencephaly | Enrichment | SHH | 1.24 |
| 127 | Male infertility with spermatogenesis disorder | Enrichment | TP63 | 1.24 |
| 128 | Midline interhemispheric variant of holoprosencephaly | Enrichment | SHH | 1.24 |
| 129 | Ovarian cancer | Enrichment | CDKN2A, DICER1 | 1.21 |
| 130 | Rhabdomyosarcoma | Enrichment | DICER1 | 1.21 |
| 131 | Microform holoprosencephaly | Enrichment | SHH | 1.21 |
| 132 | Lobar holoprosencephaly | Enrichment | SHH | 1.21 |
| 133 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.18 |
| 134 | Alobar holoprosencephaly | Enrichment | SHH | 1.18 |
| 135 | Heart, malformation of | Enrichment | JAG1 | 1.16 |
| 136 | Charcot-marie-tooth disease type 4 | Enrichment | EGR2 | 1.16 |
| 137 | Semilobar holoprosencephaly | Enrichment | SHH | 1.16 |
| 138 | Behcet syndrome | Enrichment | FAS | 1.14 |
| 139 | Macs syndrome | Enrichment | SHH | 1.12 |
| 140 | Hepatoblastoma | Enrichment | JAG1 | 1.09 |
| 141 | Hepatocellular carcinoma | Enrichment | VDR | 1.08 |
| 142 | Skin disease | Enrichment | ITGB4 | 1.08 |
| 143 | Microcephaly | Enrichment | ABL1, EP300 | 1.07 |
| 144 | Pancreatic cancer | Enrichment | CDKN2A | 1.02 |
| 145 | Inherited cancer-predisposing syndrome | Enrichment | CDKN2A, DICER1 | 1.01 |
| 146 | Tetralogy of fallot | Enrichment | JAG1 | 1.01 |
| 147 | Auditory neuropathy | Enrichment | FDXR | 1.01 |
| 148 | Lung cancer | Enrichment | FAS | 0.92 |
| 149 | Charcot-marie-tooth disease | Enrichment | DST | 0.82 |
| 150 | Gastric cancer | Enrichment | CDKN2A | 0.80 |
| 151 | Nephrotic syndrome | Enrichment | ITGA3 | 0.80 |
| 152 | Primary ovarian insufficiency | Enrichment | TP63 | 0.68 |
| 153 | Autism | Enrichment | SHH | 0.60 |
| 154 | Hereditary retinal dystrophy | Enrichment | JAG1 | 0.16 |
| 155 | Fundus dystrophy | Enrichment | JAG1 | 0.16 |