| 1 | Lung cancer susceptibility 3 | Enrichment | ACTA2, EGFR, ERBB2, FGF10 | 8.21 |
| 2 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4, KRT14, KRT5 | 6.66 |
| 3 | Epidermolysis bullosa simplex | Enrichment | ITGB4, KRT14, KRT5 | 6.12 |
| 4 | Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT14, KRT5 | 5.78 |
| 5 | Epidermolysis bullosa | Enrichment | ITGA6, KRT5 | 5.07 |
| 6 | Lung cancer | Enrichment | ACTA2, EGFR, ERBB2 | 5.02 |
| 7 | Epidermolysis bullosa simplex 1b, generalized intermediate | Enrichment | KRT14, KRT5 | 5.00 |
| 8 | Epidermolysis bullosa simplex generalized type | Enrichment | KRT14, KRT5 | 5.00 |
| 9 | Epidermolysis bullosa simplex 2f, with mottled pigmentation | Enrichment | KRT14, KRT5 | 4.78 |
| 10 | Epidermolysis bullosa simplex 1a, generalized severe | Enrichment | KRT14, KRT5 | 4.78 |
| 11 | Ichthyosis with confetti | Enrichment | KRT1, KRT10 | 4.62 |
| 12 | Ichthyosis, annular epidermolytic, 1 | Enrichment | KRT1, KRT10 | 4.62 |
| 13 | Annular epidermolytic ichthyosis | Enrichment | KRT1, KRT10 | 4.62 |
| 14 | Autosomal dominant epidermolytic ichthyosis | Enrichment | KRT1, KRT10 | 4.62 |
| 15 | Skin disease | Enrichment | FLG, ITGB4, KRT14 | 4.49 |
| 16 | Epidermolytic hyperkeratosis | Enrichment | KRT1, KRT10 | 4.32 |
| 17 | Epidermolytic hyperkeratosis 1 | Enrichment | KRT1, KRT10 | 4.10 |
| 18 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2 | 4.04 |
| 19 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.92 |
| 20 | Microphthalmia | Enrichment | ALDH1A3, TFAP2A | 3.71 |
| 21 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJB3, LORICRIN | 3.65 |
| 22 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4 | 3.54 |
| 23 | Bladder cancer | Enrichment | EGFR, ERBB2 | 3.18 |
| 24 | Gastric cancer | Enrichment | EPCAM, ERBB2 | 3.13 |
| 25 | Paget disease, extramammary | Enrichment | ERBB2 | 3.02 |
| 26 | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive | Enrichment | DLX5 | 3.02 |
| 27 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 3.02 |
| 28 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 3.02 |
| 29 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 3.02 |
| 30 | Lynch syndrome 8 | Enrichment | EPCAM | 3.02 |
| 31 | Split hand-foot malformation 1 with sensorineural hearing loss | Enrichment | DLX5 | 3.02 |
| 32 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 3.02 |
| 33 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 3.02 |
| 34 | Dermatopathia pigmentosa reticularis | Enrichment | KRT14 | 2.88 |
| 35 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.88 |
| 36 | Naegeli-franceschetti-jadassohn syndrome | Enrichment | KRT14 | 2.88 |
| 37 | Spinocerebellar ataxia 43 | Enrichment | MME | 2.88 |
| 38 | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | Enrichment | MME | 2.88 |
| 39 | Charcot-marie-tooth disease type 2t | Enrichment | MME | 2.88 |
| 40 | Mme-related autosomal dominant charcot marie tooth disease type 2 | Enrichment | MME | 2.88 |
| 41 | Premature aging | Enrichment | VIM | 2.88 |
| 42 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.88 |
| 43 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, MYH11 | 2.82 |
| 44 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | Enrichment | GATA3 | 2.72 |
| 45 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 2.72 |
| 46 | Epidermolysis bullosa simplex 2e, with migratory circinate erythema | Enrichment | KRT5 | 2.72 |
| 47 | Diarrhea 5, with tufting enteropathy, congenital | Enrichment | EPCAM | 2.72 |
| 48 | Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | Enrichment | KRT5 | 2.72 |
| 49 | Microphthalmia, isolated 8 | Enrichment | ALDH1A3 | 2.72 |
| 50 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Enrichment | GATA3 | 2.72 |
| 51 | Hypoparathyroidism-deafness-renal disease syndrome | Enrichment | GATA3 | 2.72 |
| 52 | Esotropia | Enrichment | TFAP2A | 2.72 |
| 53 | Epidermolysis bullosa simplex 2a, generalized severe | Enrichment | KRT5 | 2.72 |
| 54 | Autosomal dominant nonsyndromic deafness | Enrichment | GATA3 | 2.72 |
| 55 | Lens subluxation | Enrichment | TFAP2A | 2.72 |
| 56 | Aortic aneurysm, familial thoracic 4 | Enrichment | MYH11 | 2.58 |
| 57 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.58 |
| 58 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.58 |
| 59 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.58 |
| 60 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.58 |
| 61 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | Enrichment | MYH11 | 2.58 |
| 62 | Sjogren-larsson syndrome | Enrichment | KRT14 | 2.58 |
| 63 | Cataract 30 | Enrichment | VIM | 2.58 |
| 64 | Visceral myopathy 2 | Enrichment | MYH11 | 2.58 |
| 65 | Charcot-marie-tooth disease, axonal, type 2t | Enrichment | MME | 2.58 |
| 66 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10 | 2.54 |
| 67 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 2.54 |
| 68 | Epidermolysis bullosa simplex 2b, generalized intermediate | Enrichment | KRT5 | 2.54 |
| 69 | End stage renal disease | Enrichment | GATA3 | 2.54 |
| 70 | Epidermolysis bullosa simplex 2c, localized | Enrichment | KRT5 | 2.54 |
| 71 | Isolated anophthalmia-microphthalmia syndrome | Enrichment | ALDH1A3 | 2.54 |
| 72 | Ichthyosis hystrix, curth-macklin type | Enrichment | KRT1 | 2.54 |
| 73 | Palmoplantar keratoderma, nonepidermolytic | Enrichment | KRT1 | 2.54 |
| 74 | Vohwinkel syndrome, variant form | Enrichment | LORICRIN | 2.54 |
| 75 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.54 |
| 76 | Uric acid concentration, serum, quantitative trait locus 1 | Enrichment | ABCG2 | 2.54 |
| 77 | Deafness, autosomal dominant 2b | Enrichment | GJB3 | 2.54 |
| 78 | Ichthyosis, congenital, autosomal recessive 12 | Enrichment | CASP14 | 2.54 |
| 79 | Ichthyosis, annular epidermolytic, 2 | Enrichment | KRT1 | 2.54 |
| 80 | Netherton syndrome | Enrichment | SPINK5 | 2.54 |
| 81 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.54 |
| 82 | Keratosis palmoplantaris striata iii | Enrichment | KRT1 | 2.54 |
| 83 | Immunodeficiency 46 | Enrichment | TFRC | 2.54 |
| 84 | Blood group, junior system | Enrichment | ABCG2 | 2.54 |
| 85 | Neuropathy with hearing impairment | Enrichment | GJB3 | 2.54 |
| 86 | Palmoplantar keratoderma, epidermolytic, 2 | Enrichment | KRT1 | 2.54 |
| 87 | Ichthyosis linearis circumflexa | Enrichment | SPINK5 | 2.54 |
| 88 | Autosomal recessive epidermolytic ichthyosis | Enrichment | KRT10 | 2.54 |
| 89 | Colorectal cancer | Enrichment | EPCAM, ERBB2 | 2.52 |
| 90 | Branchiooculofacial syndrome | Enrichment | TFAP2A | 2.42 |
| 91 | Dowling-degos disease 1 | Enrichment | KRT5 | 2.42 |
| 92 | Barrett esophagus | Enrichment | ERBB2 | 2.42 |
| 93 | Dowling-degos disease | Enrichment | KRT5 | 2.42 |
| 94 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.40 |
| 95 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.40 |
| 96 | Tricuspid valve insufficiency | Enrichment | MYH11 | 2.40 |
| 97 | Amblyopia | Enrichment | TFAP2A | 2.32 |
| 98 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYH11 | 2.28 |
| 99 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 2.28 |
| 100 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | MYH11 | 2.28 |
| 101 | Mitral valve insufficiency | Enrichment | MYH11 | 2.28 |
| 102 | Branchiootorenal syndrome 1 | Enrichment | TFAP2A | 2.24 |
| 103 | Split-hand/foot malformation 1 | Enrichment | DLX5 | 2.24 |
| 104 | Ichthyosis hystrix, lambert type | Enrichment | KRT10 | 2.24 |
| 105 | Ichthyosis vulgaris | Enrichment | FLG | 2.24 |
| 106 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | KRT1 | 2.24 |
| 107 | Dermatitis, atopic, 2 | Enrichment | FLG | 2.24 |
| 108 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.24 |
| 109 | Epidermolytic hyperkeratosis 2a, autosomal dominant | Enrichment | KRT10 | 2.24 |
| 110 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 2.24 |
| 111 | Ichthyosis, x-linked | Enrichment | FLG | 2.24 |
| 112 | Dermatitis | Enrichment | FLG | 2.24 |
| 113 | Epidermolytic acanthoma | Enrichment | KRT10 | 2.24 |
| 114 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.24 |
| 115 | Visceral myopathy 1 | Enrichment | MYH11 | 2.18 |
| 116 | Histiocytoid hemangioma | Enrichment | VIM | 2.18 |
| 117 | Branchiootorenal syndrome | Enrichment | TFAP2A | 2.17 |
| 118 | Glioma susceptibility 1 | Enrichment | ERBB2 | 2.12 |
| 119 | Isolated split hand-split foot malformation | Enrichment | DLX5 | 2.12 |
| 120 | Ovarian cancer | Enrichment | EGFR, ERBB2 | 2.11 |
| 121 | Cowden syndrome 1 | Enrichment | EGFR | 2.10 |
| 122 | Moyamoya disease 1 | Enrichment | ACTA2 | 2.10 |
| 123 | Intestinal pseudo-obstruction | Enrichment | MYH11 | 2.10 |
| 124 | Lung squamous cell carcinoma | Enrichment | EGFR | 2.10 |
| 125 | Orofacial cleft 1 | Enrichment | FGF10 | 2.07 |
| 126 | Colonic benign neoplasm | Enrichment | EPCAM | 2.07 |
| 127 | Palmoplantar keratoderma, epidermolytic, 1 | Enrichment | KRT1 | 2.07 |
| 128 | Epidermolytic hyperkeratosis 2b, autosomal recessive | Enrichment | KRT10 | 2.07 |
| 129 | Keratosis palmoplantaris striata | Enrichment | KRT1 | 2.07 |
| 130 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 2.03 |
| 131 | Cat eye syndrome | Enrichment | TFAP2A | 2.02 |
| 132 | Lynch syndrome 1 | Enrichment | EPCAM | 2.02 |
| 133 | Nanophthalmos | Enrichment | ALDH1A3 | 1.98 |
| 134 | Epicanthus | Enrichment | TFAP2A | 1.94 |
| 135 | Otitis media | Enrichment | SPINK5 | 1.94 |
| 136 | Deafness, autosomal recessive 1a | Enrichment | GJB3 | 1.94 |
| 137 | Dermatitis, atopic | Enrichment | FLG | 1.94 |
| 138 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.94 |
| 139 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 1.94 |
| 140 | Epidermolytic nevus | Enrichment | KRT10 | 1.94 |
| 141 | Gjb2-related autosomal recessive nonsyndromic hearing loss | Enrichment | GJB3 | 1.94 |
| 142 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.93 |
| 143 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYH11 | 1.93 |
| 144 | Neural tube defects | Enrichment | ITGB1 | 1.91 |
| 145 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, EPCAM | 1.89 |
| 146 | Cataract 30, multiple types | Enrichment | VIM | 1.88 |
| 147 | Lynch syndrome | Enrichment | EPCAM | 1.85 |
| 148 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.84 |
| 149 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.80 |
| 150 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.77 |
| 151 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.77 |
| 152 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYH11 | 1.73 |
| 153 | Macs syndrome | Enrichment | ALDH1A3 | 1.72 |
| 154 | Myopia | Enrichment | MYH11 | 1.70 |
| 155 | Paroxysmal dystonia | Enrichment | FLG | 1.70 |
| 156 | Gliosarcoma | Enrichment | EGFR | 1.68 |
| 157 | Giant cell glioblastoma | Enrichment | EGFR | 1.65 |
| 158 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.60 |
| 159 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | MME | 1.60 |
| 160 | Hirschsprung disease 1 | Enrichment | ERBB2 | 1.56 |
| 161 | Tooth agenesis | Enrichment | TGFA | 1.54 |
| 162 | Combined immunodeficiency | Enrichment | TFRC | 1.51 |
| 163 | Ichthyosis | Enrichment | FLG | 1.51 |
| 164 | Combined t cell and b cell immunodeficiency | Enrichment | TFRC | 1.51 |
| 165 | Combined t and b cell immunodeficiency | Enrichment | TFRC | 1.51 |
| 166 | Cakut | Enrichment | GATA3 | 1.49 |
| 167 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.43 |
| 168 | Multiple sclerosis | Enrichment | ITGB4 | 1.40 |
| 169 | Hereditary breast carcinoma | Enrichment | EPCAM | 1.38 |
| 170 | Connective tissue disease | Enrichment | ACTA2 | 1.38 |
| 171 | Peripheral nervous system disease | Enrichment | MME | 1.38 |
| 172 | Neuropathy | Enrichment | MME | 1.38 |
| 173 | Coloboma of macula | Enrichment | YAP1 | 1.37 |
| 174 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 1.37 |
| 175 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 1.37 |
| 176 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | FLG | 1.35 |
| 177 | Microform holoprosencephaly | Enrichment | DLL1 | 1.35 |
| 178 | Lobar holoprosencephaly | Enrichment | DLL1 | 1.35 |
| 179 | Alobar holoprosencephaly | Enrichment | DLL1 | 1.32 |
| 180 | Hypertelorism | Enrichment | TFAP2A | 1.31 |
| 181 | Semilobar holoprosencephaly | Enrichment | DLL1 | 1.30 |
| 182 | Autism | Enrichment | ALDH1A3 | 1.17 |
| 183 | Breast cancer | Enrichment | EPCAM | 1.16 |
| 184 | Nonsyndromic hearing loss | Enrichment | GJB3 | 0.94 |
| 185 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1 | 0.87 |
| 186 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | GJB3 | 0.86 |
| 187 | Myeloma, multiple | Enrichment | YAP1 | 0.83 |
| 188 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJB3 | 0.64 |
| 189 | Microcephaly | Enrichment | FLG | 0.52 |