| 1 | Isolated split hand-split foot malformation | Enrichment | DLX5, DLX6, TP63 | 5.67 |
| 2 | Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT14, KRT5 | 4.93 |
| 3 | Epidermolysis bullosa simplex 1b, generalized intermediate | Enrichment | KRT14, KRT5 | 4.15 |
| 4 | Chordoma | Enrichment | BRCA2, TBXT | 4.15 |
| 5 | Epidermolysis bullosa simplex generalized type | Enrichment | KRT14, KRT5 | 4.15 |
| 6 | Pancreatic cancer | Enrichment | ATM, BRCA2, CDKN2A | 4.07 |
| 7 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BRCA2, CDKN2A, MRE11, RUNX1 | 4.05 |
| 8 | Epidermolysis bullosa simplex 2f, with mottled pigmentation | Enrichment | KRT14, KRT5 | 3.93 |
| 9 | Epidermolysis bullosa simplex 1a, generalized severe | Enrichment | KRT14, KRT5 | 3.93 |
| 10 | Epidermolysis bullosa simplex 1c, localized | Enrichment | KRT14, KRT5 | 3.93 |
| 11 | Bladder cancer | Enrichment | ATM, BRCA2, CDKN2A | 3.87 |
| 12 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2 | 3.76 |
| 13 | Epidermolysis bullosa simplex | Enrichment | KRT14, KRT5 | 3.61 |
| 14 | Ovarian cancer | Enrichment | ATM, BRCA2, CDKN2A, MRE11 | 3.39 |
| 15 | Colonic benign neoplasm | Enrichment | ATM, MRE11 | 3.38 |
| 16 | Gastric cancer | Enrichment | ATM, BRCA2, CDKN2A | 3.36 |
| 17 | Uterine corpus cancer | Enrichment | ATM, BRCA2 | 3.20 |
| 18 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2 | 3.20 |
| 19 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA2 | 3.05 |
| 20 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BRCA2, MRE11 | 3.05 |
| 21 | Myeloma, multiple | Enrichment | ATM, BRCA2, YAP1 | 3.02 |
| 22 | Breast cancer | Enrichment | ATM, BRCA2, MRE11 | 2.66 |
| 23 | Endometrial cancer | Enrichment | ATM, BRCA2 | 2.63 |
| 24 | Colorectal cancer | Enrichment | ATM, BRCA2, FBXW7 | 2.47 |
| 25 | Rapp-hodgkin syndrome | Enrichment | TP63 | 2.46 |
| 26 | Dermatopathia pigmentosa reticularis | Enrichment | KRT14 | 2.46 |
| 27 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 2.46 |
| 28 | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive | Enrichment | DLX5 | 2.46 |
| 29 | Split-hand/foot malformation 4 | Enrichment | TP63 | 2.46 |
| 30 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 2.46 |
| 31 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.46 |
| 32 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.46 |
| 33 | Naegeli-franceschetti-jadassohn syndrome | Enrichment | KRT14 | 2.46 |
| 34 | Adult syndrome | Enrichment | TP63 | 2.46 |
| 35 | Sacral agenesis with vertebral anomalies | Enrichment | TBXT | 2.46 |
| 36 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Enrichment | HELLS | 2.46 |
| 37 | Accelerated tumor formation | Enrichment | MDM2 | 2.46 |
| 38 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.46 |
| 39 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.46 |
| 40 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 2.46 |
| 41 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.46 |
| 42 | Limb-mammary syndrome | Enrichment | TP63 | 2.46 |
| 43 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.46 |
| 44 | Autoimmune disease, multisystem, with facial dysmorphism | Enrichment | ITCH | 2.46 |
| 45 | Premature ovarian failure 21 | Enrichment | TP63 | 2.46 |
| 46 | Olmsted syndrome 2 | Enrichment | PERP | 2.46 |
| 47 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.46 |
| 48 | Orofacial cleft 8 | Enrichment | TP63 | 2.46 |
| 49 | Erythrokeratodermia variabilis et progressiva 7 | Enrichment | PERP | 2.46 |
| 50 | Developmental delay, hypotonia, and impaired language | Enrichment | FBXW7 | 2.46 |
| 51 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.46 |
| 52 | Syndromic multisystem autoimmune disease due to itch deficiency | Enrichment | ITCH | 2.46 |
| 53 | Rickets | Enrichment | VDR | 2.46 |
| 54 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | Enrichment | TBXT | 2.46 |
| 55 | Tp63-related disorders | Enrichment | TP63 | 2.46 |
| 56 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.46 |
| 57 | Split hand-foot malformation 1 with sensorineural hearing loss | Enrichment | DLX5 | 2.46 |
| 58 | Pneumothorax | Enrichment | COL5A1 | 2.46 |
| 59 | Aplasia cutis-enamel dysplasia syndrome | Enrichment | FOSL2 | 2.46 |
| 60 | Prostate cancer | Enrichment | ATM, BRCA2 | 2.35 |
| 61 | Connective tissue disease | Enrichment | COL5A1, NOTCH1 | 2.26 |
| 62 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.16 |
| 63 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 2.16 |
| 64 | Storage pool platelet disease | Enrichment | RUNX1 | 2.16 |
| 65 | Epidermolysis bullosa simplex 2e, with migratory circinate erythema | Enrichment | KRT5 | 2.16 |
| 66 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.16 |
| 67 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.16 |
| 68 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.16 |
| 69 | Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT5 | 2.16 |
| 70 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.16 |
| 71 | Sjogren-larsson syndrome | Enrichment | KRT14 | 2.16 |
| 72 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.16 |
| 73 | Bladder exstrophy | Enrichment | TP63 | 2.16 |
| 74 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2 | 2.16 |
| 75 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.16 |
| 76 | High grade glioma | Enrichment | ATM | 2.16 |
| 77 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.16 |
| 78 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.16 |
| 79 | Inflammatory breast carcinoma | Enrichment | BRCA2 | 2.16 |
| 80 | Fissured tongue | Enrichment | TP63 | 2.16 |
| 81 | Epidermolysis bullosa simplex 2a, generalized severe | Enrichment | KRT5 | 2.16 |
| 82 | Bilateral breast cancer | Enrichment | BRCA2 | 2.16 |
| 83 | Tafro syndrome | Enrichment | RUNX1 | 2.16 |
| 84 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 2.16 |
| 85 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL5A1, NOTCH1 | 1.99 |
| 86 | Hereditary breast carcinoma | Enrichment | ATM, BRCA2 | 1.99 |
| 87 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | ADA | 1.98 |
| 88 | Ataxia-telangiectasia | Enrichment | ATM | 1.98 |
| 89 | Polycythemia vera | Enrichment | ATM | 1.98 |
| 90 | Platelet disorder, familial, with associated myeloid malignancy | Enrichment | RUNX1 | 1.98 |
| 91 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1 | 1.98 |
| 92 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 1.98 |
| 93 | Epidermolysis bullosa simplex 2b, generalized intermediate | Enrichment | KRT5 | 1.98 |
| 94 | Koolen-de vries syndrome | Enrichment | ATM | 1.98 |
| 95 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.98 |
| 96 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Enrichment | PERP | 1.98 |
| 97 | Adenocarcinoma | Enrichment | ATM | 1.98 |
| 98 | Epidermolysis bullosa simplex 2c, localized | Enrichment | KRT5 | 1.98 |
| 99 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 1.98 |
| 100 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.98 |
| 101 | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1 | Enrichment | RUNX1 | 1.98 |
| 102 | Keratoacanthoma | Enrichment | NOTCH1 | 1.98 |
| 103 | Dowling-degos disease 1 | Enrichment | KRT5 | 1.86 |
| 104 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.86 |
| 105 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA2 | 1.86 |
| 106 | Cholangiocarcinoma | Enrichment | BRCA2 | 1.86 |
| 107 | Mantle cell lymphoma | Enrichment | ATM | 1.86 |
| 108 | Dowling-degos disease | Enrichment | KRT5 | 1.86 |
| 109 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 1.86 |
| 110 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11 | 1.86 |
| 111 | Blood platelet disease | Enrichment | RUNX1 | 1.86 |
| 112 | Adenosine deaminase deficiency | Enrichment | ADA | 1.86 |
| 113 | Cleft lip and alveolus | Enrichment | TP63 | 1.86 |
| 114 | Oculomotor apraxia | Enrichment | ATM | 1.86 |
| 115 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | ADA | 1.76 |
| 116 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.76 |
| 117 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA2 | 1.76 |
| 118 | Pervasive developmental disorder | Enrichment | FBXW7 | 1.76 |
| 119 | Glioblastoma | Enrichment | ATM | 1.76 |
| 120 | Epidermolysis bullosa | Enrichment | KRT5 | 1.76 |
| 121 | Cleft upper lip | Enrichment | TP63 | 1.76 |
| 122 | Aggressive systemic mastocytosis | Enrichment | RUNX1 | 1.76 |
| 123 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | RUNX1 | 1.76 |
| 124 | Rare pervasive developmental disorder | Enrichment | FBXW7 | 1.76 |
| 125 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL5A1 | 1.69 |
| 126 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.69 |
| 127 | Split-hand/foot malformation 1 | Enrichment | DLX5 | 1.69 |
| 128 | Inguinal hernia | Enrichment | COL5A1 | 1.69 |
| 129 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | HELLS | 1.69 |
| 130 | Pain disorder | Enrichment | COL5A1 | 1.69 |
| 131 | Pancytopenia | Enrichment | RUNX1 | 1.69 |
| 132 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.69 |
| 133 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.69 |
| 134 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.69 |
| 135 | Classic ehlers-danlos syndrome | Enrichment | COL5A1 | 1.69 |
| 136 | Leukemia, chronic myeloid | Enrichment | RUNX1 | 1.62 |
| 137 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 1.62 |
| 138 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.62 |
| 139 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.62 |
| 140 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.56 |
| 141 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 1.56 |
| 142 | Orthostatic intolerance | Enrichment | COL5A1 | 1.56 |
| 143 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.56 |
| 144 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2 | 1.51 |
| 145 | Polydactyly | Enrichment | BRCA2 | 1.51 |
| 146 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | RUNX1 | 1.51 |
| 147 | Lynch syndrome 1 | Enrichment | ATM | 1.47 |
| 148 | Leukemia, chronic lymphocytic | Enrichment | ATM | 1.47 |
| 149 | Omenn syndrome | Enrichment | ADA | 1.47 |
| 150 | Melanoma | Enrichment | CDKN2A | 1.47 |
| 151 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2 | 1.47 |
| 152 | Immune deficiency disease | Enrichment | ATM | 1.43 |
| 153 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.43 |
| 154 | Cutis laxa | Enrichment | COL5A1 | 1.39 |
| 155 | Lip and oral cavity carcinoma | Enrichment | CDKN2A | 1.39 |
| 156 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.36 |
| 157 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.36 |
| 158 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.36 |
| 159 | Neural tube defects | Enrichment | TBXT | 1.36 |
| 160 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 1.36 |
| 161 | Premature menopause | Enrichment | TP63 | 1.36 |
| 162 | Clubfoot | Enrichment | COL5A1 | 1.36 |
| 163 | Nk-cell enteropathy | Enrichment | AXL | 1.36 |
| 164 | Medulloblastoma | Enrichment | BRCA2 | 1.32 |
| 165 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.32 |
| 166 | Cataract | Enrichment | COL5A1 | 1.32 |
| 167 | Cleft lip/palate | Enrichment | TP63 | 1.32 |
| 168 | Coloboma of macula | Enrichment | YAP1 | 1.29 |
| 169 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 1.29 |
| 170 | Wilms tumor 1 | Enrichment | BRCA2 | 1.29 |
| 171 | Male infertility with spermatogenesis disorder | Enrichment | TP63 | 1.29 |
| 172 | Rhabdomyosarcoma | Enrichment | BRCA2 | 1.27 |
| 173 | Gliosarcoma | Enrichment | ATM | 1.27 |
| 174 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.24 |
| 175 | Giant cell glioblastoma | Enrichment | ATM | 1.24 |
| 176 | Diffuse large b-cell lymphoma | Enrichment | BRCA2 | 1.19 |
| 177 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2 | 1.19 |
| 178 | Ehlers-danlos syndrome | Enrichment | COL5A1 | 1.19 |
| 179 | Hepatoblastoma | Enrichment | BRCA2 | 1.15 |
| 180 | Hepatocellular carcinoma | Enrichment | VDR | 1.13 |
| 181 | Skin disease | Enrichment | KRT14 | 1.13 |
| 182 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 1.11 |
| 183 | Tetralogy of fallot | Enrichment | NOTCH1 | 1.06 |
| 184 | Severe combined immunodeficiency | Enrichment | ADA | 0.97 |
| 185 | Fanconi anemia, complementation group a | Enrichment | BRCA2 | 0.94 |
| 186 | Cerebral palsy | Enrichment | BRCA2 | 0.90 |
| 187 | Leukemia, acute myeloid | Enrichment | RUNX1 | 0.89 |
| 188 | Nephrotic syndrome | Enrichment | ITGA3 | 0.86 |
| 189 | Thrombocytopenia | Enrichment | RUNX1 | 0.81 |
| 190 | Primary ovarian insufficiency | Enrichment | TP63 | 0.73 |