| 1 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3 | 4.38 |
| 2 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2 | 3.53 |
| 3 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2 | 3.32 |
| 4 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3 | 2.68 |
| 5 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.63 |
| 6 | Bart-pumphrey syndrome | Enrichment | GJB2 | 2.63 |
| 7 | Paget disease, extramammary | Enrichment | ERBB2 | 2.63 |
| 8 | Vohwinkel syndrome | Enrichment | GJB2 | 2.63 |
| 9 | Deafness, autosomal dominant 3a | Enrichment | GJB2 | 2.63 |
| 10 | Osteopetrosis, autosomal recessive 7 | Enrichment | TNFRSF11A | 2.63 |
| 11 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.63 |
| 12 | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | Enrichment | GJB2 | 2.63 |
| 13 | Congenital myopathy 4b, autosomal recessive | Enrichment | TPM3 | 2.63 |
| 14 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.63 |
| 15 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.63 |
| 16 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.63 |
| 17 | Fetal encasement syndrome | Enrichment | CHUK | 2.63 |
| 18 | Epilepsy, familial temporal lobe, 8 | Enrichment | GAL | 2.63 |
| 19 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.63 |
| 20 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.63 |
| 21 | Progesterone resistance | Enrichment | PGR | 2.63 |
| 22 | Autism 19 | Enrichment | EIF4E | 2.63 |
| 23 | Hyperprolactinemia | Enrichment | PRLR | 2.63 |
| 24 | Ichthyosis, hystrix-like, with deafness | Enrichment | GJB2 | 2.63 |
| 25 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.63 |
| 26 | Ovarian dysgenesis 8 | Enrichment | ESR2 | 2.63 |
| 27 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.63 |
| 28 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.63 |
| 29 | Familial hyperprolactinemia | Enrichment | PRLR | 2.63 |
| 30 | Porokeratotic eccrine ostial and dermal duct nevus | Enrichment | GJB2 | 2.63 |
| 31 | Autosomal dominant nonsyndromic hearing loss 3a | Enrichment | GJB2 | 2.63 |
| 32 | Acute myeloid leukemia with mutated cebpa | Enrichment | CEBPA | 2.63 |
| 33 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.63 |
| 34 | Congenital generalized hypercontractile muscle stiffness syndrome | Enrichment | TPM3 | 2.63 |
| 35 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.63 |
| 36 | Lung cancer | Enrichment | EGFR, ERBB2 | 2.59 |
| 37 | Leukemia, acute myeloid | Enrichment | CEBPA, JAK2 | 2.40 |
| 38 | Burkitt lymphoma | Enrichment | MYC | 2.33 |
| 39 | Familial expansile osteolysis | Enrichment | TNFRSF11A | 2.33 |
| 40 | Paget disease of bone 5, juvenile-onset | Enrichment | TNFRSF11A | 2.33 |
| 41 | Galactosemia ii | Enrichment | NR3C1 | 2.33 |
| 42 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.33 |
| 43 | Thrombocythemia 3 | Enrichment | JAK2 | 2.33 |
| 44 | Osteopetrosis, autosomal recessive 2 | Enrichment | TNFSF11 | 2.33 |
| 45 | Deafness, autosomal recessive 104 | Enrichment | GJB2 | 2.33 |
| 46 | Gabriele-de vries syndrome | Enrichment | YY1 | 2.33 |
| 47 | Deafness, autosomal recessive 1b | Enrichment | GJB2 | 2.33 |
| 48 | Developmental and epileptic encephalopathy 78 | Enrichment | YY1 | 2.33 |
| 49 | Insulinoma | Enrichment | YY1 | 2.33 |
| 50 | Polycythemia | Enrichment | JAK2 | 2.33 |
| 51 | Keratitis ichthyosis and deafness syndrome | Enrichment | GJB2 | 2.33 |
| 52 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.33 |
| 53 | Hereditary palmoplantar keratoderma | Enrichment | GJB2 | 2.33 |
| 54 | Thyroid carcinoma, familial medullary | Enrichment | ESR2 | 2.15 |
| 55 | Keratoderma, palmoplantar, with deafness | Enrichment | GJB2 | 2.15 |
| 56 | Dysosteosclerosis | Enrichment | TNFRSF11A | 2.15 |
| 57 | Polycythemia vera | Enrichment | JAK2 | 2.15 |
| 58 | Ifap syndrome 1, with or without bresheck syndrome | Enrichment | GJB2 | 2.15 |
| 59 | Estrogen resistance | Enrichment | ESR1 | 2.15 |
| 60 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.15 |
| 61 | Deafness, x-linked 2 | Enrichment | GJB2 | 2.15 |
| 62 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 2.15 |
| 63 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.15 |
| 64 | Migraine without aura | Enrichment | ESR1 | 2.15 |
| 65 | X-linked mixed hearing loss with perilymphatic gusher | Enrichment | GJB2 | 2.15 |
| 66 | Adult-onset myasthenia gravis | Enrichment | TNFRSF11A | 2.15 |
| 67 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.15 |
| 68 | Cap myopathy | Enrichment | TPM3 | 2.15 |
| 69 | Primary ovarian insufficiency | Enrichment | JAK2, PRLR | 2.07 |
| 70 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 2.03 |
| 71 | Deafness, autosomal recessive 1a | Enrichment | GJB2 | 2.03 |
| 72 | Budd-chiari syndrome | Enrichment | JAK2 | 2.03 |
| 73 | Paget disease of bone 2, early-onset | Enrichment | TNFRSF11A | 2.03 |
| 74 | Barrett esophagus | Enrichment | ERBB2 | 2.03 |
| 75 | Mantle cell lymphoma | Enrichment | CCND1 | 2.03 |
| 76 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 2.03 |
| 77 | Autosomal recessive osteopetrosis | Enrichment | TNFSF11 | 2.03 |
| 78 | Gjb2-related autosomal recessive nonsyndromic hearing loss | Enrichment | GJB2 | 2.03 |
| 79 | Paget's disease of bone 2 | Enrichment | TNFRSF11A | 2.03 |
| 80 | Intermediate nemaline myopathy | Enrichment | TPM3 | 2.03 |
| 81 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.93 |
| 82 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.93 |
| 83 | Inherited acute myeloid leukemia | Enrichment | CEBPA | 1.93 |
| 84 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | CEBPA | 1.93 |
| 85 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.93 |
| 86 | Cowden syndrome 1 | Enrichment | EGFR | 1.85 |
| 87 | Deafness, autosomal recessive 12 | Enrichment | GJB2 | 1.85 |
| 88 | Inflammatory myofibroblastic tumor | Enrichment | TPM3 | 1.85 |
| 89 | Limited scleroderma | Enrichment | CAV1 | 1.85 |
| 90 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.85 |
| 91 | Myelofibrosis | Enrichment | JAK2 | 1.79 |
| 92 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.79 |
| 93 | Essential thrombocythemia | Enrichment | JAK2 | 1.79 |
| 94 | Childhood-onset nemaline myopathy | Enrichment | TPM3 | 1.79 |
| 95 | Colorectal cancer | Enrichment | CCND1, ERBB2 | 1.75 |
| 96 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.73 |
| 97 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.68 |
| 98 | Primary hyperaldosteronism | Enrichment | NR3C1 | 1.68 |
| 99 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.63 |
| 100 | Nemaline myopathy | Enrichment | TPM3 | 1.63 |
| 101 | Ovarian cancer | Enrichment | EGFR, ERBB2 | 1.63 |
| 102 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.59 |
| 103 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.59 |
| 104 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.55 |
| 105 | Nk-cell enteropathy | Enrichment | ERBB4 | 1.52 |
| 106 | Congenital myopathy 4a, autosomal dominant | Enrichment | TPM3 | 1.46 |
| 107 | Gliosarcoma | Enrichment | EGFR | 1.43 |
| 108 | Inherited cancer-predisposing syndrome | Enrichment | CEBPA, EGFR | 1.41 |
| 109 | Giant cell glioblastoma | Enrichment | EGFR | 1.40 |
| 110 | Arteriovenous malformations of the brain | Enrichment | EGFR | 1.36 |
| 111 | Centronuclear myopathy | Enrichment | TPM3 | 1.31 |
| 112 | Myocardial infarction | Enrichment | ESR1 | 1.30 |
| 113 | Noonan syndrome 1 | Enrichment | GJB2 | 1.28 |
| 114 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.28 |
| 115 | Ear malformation | Enrichment | GJB2 | 1.26 |
| 116 | Non-syndromic genetic deafness | Enrichment | GJB2 | 1.09 |
| 117 | Myopathy | Enrichment | TPM3 | 1.04 |
| 118 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 1.02 |
| 119 | Nonsyndromic hearing loss | Enrichment | GJB2 | 1.02 |
| 120 | Gastric cancer | Enrichment | ERBB2 | 1.01 |
| 121 | Hereditary breast carcinoma | Enrichment | ESR1 | 1.01 |
| 122 | Sensorineural hearing loss | Enrichment | GJB2 | 0.97 |
| 123 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.95 |
| 124 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | GJB2 | 0.94 |
| 125 | Myeloma, multiple | Enrichment | CCND1 | 0.91 |
| 126 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.89 |
| 127 | Deafness, autosomal recessive | Enrichment | GJB2 | 0.86 |
| 128 | Autosomal recessive nonsyndromic deafness | Enrichment | GJB2 | 0.85 |
| 129 | Breast cancer | Enrichment | ESR1 | 0.79 |
| 130 | Rare genetic deafness | Enrichment | GJB2 | 0.77 |
| 131 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJB2 | 0.72 |
| 132 | Autism spectrum disorder | Enrichment | GJB2 | 0.64 |