| 1 | 46 xx gonadal dysgenesis | Enrichment | FIGLA, FSHR, NR5A1 | 5.43 |
| 2 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, MLH1, RAD51 | 5.28 |
| 3 | Oocyte/zygote/embryo maturation arrest 1 | Enrichment | ZP2, ZP3 | 4.39 |
| 4 | Breast cancer | Enrichment | AKT1, ATM, MLH1, RAD51 | 4.35 |
| 5 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM, MTOR | 3.85 |
| 6 | Gastric cancer | Enrichment | ATM, CDK4, MLH1 | 3.71 |
| 7 | Colonic benign neoplasm | Enrichment | ATM, MLH1 | 3.61 |
| 8 | Lynch syndrome 1 | Enrichment | ATM, MLH1 | 3.52 |
| 9 | Inherited cancer-predisposing syndrome | Enrichment | ATM, CDK4, CDKN1B, MLH1 | 3.40 |
| 10 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, MLH1, RAD51 | 3.39 |
| 11 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, MTOR | 3.15 |
| 12 | Azoospermia | Enrichment | DMC1, MSH5 | 2.90 |
| 13 | Endometrial cancer | Enrichment | ATM, MLH1 | 2.86 |
| 14 | Colorectal cancer | Enrichment | AKT1, ATM, MLH1 | 2.81 |
| 15 | Ovarian cancer | Enrichment | AKT1, ATM, CDKN1B | 2.62 |
| 16 | Proteus syndrome | Enrichment | AKT1 | 2.58 |
| 17 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.58 |
| 18 | Acromesomelic dysplasia 3 | Enrichment | BMPR1B | 2.58 |
| 19 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.58 |
| 20 | Mirror movements 2 | Enrichment | RAD51 | 2.58 |
| 21 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.58 |
| 22 | 46,xx sex reversal 4 | Enrichment | NR5A1 | 2.58 |
| 23 | Brachydactyly, type a1, d | Enrichment | BMPR1B | 2.58 |
| 24 | Spermatogenic failure 8 | Enrichment | NR5A1 | 2.58 |
| 25 | Ovarian dysgenesis 1 | Enrichment | FSHR | 2.58 |
| 26 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 2.58 |
| 27 | Twinning, dizygotic | Enrichment | FSHR | 2.58 |
| 28 | Progesterone resistance | Enrichment | PGR | 2.58 |
| 29 | Lynch syndrome 2 | Enrichment | MLH1 | 2.58 |
| 30 | Hyperprolactinemia | Enrichment | PRLR | 2.58 |
| 31 | Premature ovarian failure 6 | Enrichment | FIGLA | 2.58 |
| 32 | Ovarian dysgenesis 8 | Enrichment | ESR2 | 2.58 |
| 33 | Ovarian hyperstimulation syndrome | Enrichment | FSHR | 2.58 |
| 34 | Oocyte/zygote/embryo maturation arrest 6 | Enrichment | ZP2 | 2.58 |
| 35 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.58 |
| 36 | Emery-dreifuss muscular dystrophy 5, autosomal dominant | Enrichment | SYNE2 | 2.58 |
| 37 | Cowden syndrome 6 | Enrichment | AKT1 | 2.58 |
| 38 | Amenorrhea | Enrichment | FSHR | 2.58 |
| 39 | Premature ovarian failure 7 | Enrichment | NR5A1 | 2.58 |
| 40 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.58 |
| 41 | Hemangioma of liver | Enrichment | GJA4 | 2.58 |
| 42 | Congenital anomalies of kidney and urinary tract 3 | Enrichment | NRIP1 | 2.58 |
| 43 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.58 |
| 44 | Premature ovarian failure 14 | Enrichment | GDF9 | 2.58 |
| 45 | Rickets | Enrichment | VDR | 2.58 |
| 46 | Familial hyperprolactinemia | Enrichment | PRLR | 2.58 |
| 47 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.58 |
| 48 | Skin hemangioma | Enrichment | GJA4 | 2.58 |
| 49 | Xq27.3q28 duplication syndrome | Enrichment | FMR1 | 2.58 |
| 50 | Muir-torre syndrome | Enrichment | MLH1 | 2.28 |
| 51 | Precocious puberty, male-limited | Enrichment | LHCGR | 2.28 |
| 52 | Leydig cell hypoplasia, type i | Enrichment | LHCGR | 2.28 |
| 53 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.28 |
| 54 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.28 |
| 55 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.28 |
| 56 | Premature ovarian failure 13 | Enrichment | MSH5 | 2.28 |
| 57 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.28 |
| 58 | Oocyte/zygote/embryo maturation arrest 3 | Enrichment | ZP3 | 2.28 |
| 59 | Cebalid syndrome | Enrichment | MTOR | 2.28 |
| 60 | Spermatogenic failure 74 | Enrichment | MSH5 | 2.28 |
| 61 | 46,xy sex reversal 3 | Enrichment | NR5A1 | 2.28 |
| 62 | High grade glioma | Enrichment | ATM | 2.28 |
| 63 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.28 |
| 64 | Smith-kingsmore syndrome | Enrichment | MTOR | 2.28 |
| 65 | Leydig cell hypoplasia type ii | Enrichment | LHCGR | 2.28 |
| 66 | Brachydactyly, type a1 | Enrichment | BMPR1B | 2.10 |
| 67 | Brachydactyly, type c | Enrichment | BMPR1B | 2.10 |
| 68 | Thyroid carcinoma, familial medullary | Enrichment | ESR2 | 2.10 |
| 69 | Ataxia-telangiectasia | Enrichment | ATM | 2.10 |
| 70 | Acromesomelic dysplasia 2a | Enrichment | BMPR1B | 2.10 |
| 71 | Acromesomelic dysplasia 2c | Enrichment | BMPR1B | 2.10 |
| 72 | Asthma, nasal polyps, and aspirin intolerance | Enrichment | PTGER2 | 2.10 |
| 73 | Acromesomelic dysplasia 2b | Enrichment | BMPR1B | 2.10 |
| 74 | Polycythemia vera | Enrichment | ATM | 2.10 |
| 75 | Niemann-pick disease, type a | Enrichment | SMPD1 | 2.10 |
| 76 | 46,xx sex reversal 1 | Enrichment | NR5A1 | 2.10 |
| 77 | Niemann-pick disease, type b | Enrichment | SMPD1 | 2.10 |
| 78 | Aromatase excess syndrome | Enrichment | CYP19A1 | 2.10 |
| 79 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 2.10 |
| 80 | Koolen-de vries syndrome | Enrichment | ATM | 2.10 |
| 81 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 2.10 |
| 82 | Adenocarcinoma | Enrichment | ATM | 2.10 |
| 83 | Gonadal dysgenesis | Enrichment | FSHR | 2.10 |
| 84 | Aromatase deficiency | Enrichment | CYP19A1 | 2.10 |
| 85 | Melanoma of soft tissue | Enrichment | CREB1 | 2.10 |
| 86 | Well-differentiated liposarcoma | Enrichment | CDK4 | 2.10 |
| 87 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | MSH5, NR5A1 | 2.02 |
| 88 | Mirror movements 1 | Enrichment | RAD51 | 1.98 |
| 89 | Brachydactyly, type a2 | Enrichment | BMPR1B | 1.98 |
| 90 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1 | 1.98 |
| 91 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.98 |
| 92 | Fragile x tremor/ataxia syndrome | Enrichment | FMR1 | 1.98 |
| 93 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.98 |
| 94 | Spermatogenic failure 1 | Enrichment | NR5A1 | 1.98 |
| 95 | Mantle cell lymphoma | Enrichment | ATM | 1.98 |
| 96 | Fragile x-associated tremor/ataxia syndrome | Enrichment | FMR1 | 1.98 |
| 97 | Aortic aneurysm | Enrichment | SMAD3 | 1.98 |
| 98 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.98 |
| 99 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.98 |
| 100 | Oculomotor apraxia | Enrichment | ATM | 1.98 |
| 101 | Primary ovarian insufficiency | Enrichment | CYP19A1, PRLR | 1.97 |
| 102 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.88 |
| 103 | Premature ovarian failure 1 | Enrichment | FMR1 | 1.88 |
| 104 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.88 |
| 105 | Fragile x syndrome | Enrichment | FMR1 | 1.88 |
| 106 | Glioblastoma | Enrichment | ATM | 1.88 |
| 107 | Niemann-pick disease | Enrichment | SMPD1 | 1.88 |
| 108 | Pseudohermaphroditism | Enrichment | LHCGR | 1.88 |
| 109 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | NR5A1 | 1.88 |
| 110 | Hemimegalencephaly | Enrichment | MTOR | 1.88 |
| 111 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | SYNE2 | 1.80 |
| 112 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.80 |
| 113 | Breast adenocarcinoma | Enrichment | AKT1 | 1.80 |
| 114 | 46,xy disorder of sex development | Enrichment | NR5A1 | 1.80 |
| 115 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.73 |
| 116 | Overgrowth syndrome | Enrichment | MTOR | 1.73 |
| 117 | Difference of sex development | Enrichment | NR5A1 | 1.68 |
| 118 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.63 |
| 119 | Cowden syndrome | Enrichment | AKT1 | 1.63 |
| 120 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.63 |
| 121 | Leukemia, chronic lymphocytic | Enrichment | ATM | 1.58 |
| 122 | Familial colorectal cancer | Enrichment | MLH1 | 1.58 |
| 123 | Immune deficiency disease | Enrichment | ATM | 1.54 |
| 124 | 46,xy complete gonadal dysgenesis | Enrichment | NR5A1 | 1.54 |
| 125 | Uterine corpus cancer | Enrichment | ATM | 1.54 |
| 126 | Familial colorectal cancer type x | Enrichment | ATM | 1.54 |
| 127 | Meningioma | Enrichment | AKT1 | 1.50 |
| 128 | Breast-ovarian cancer, familial 1 | Enrichment | ATM | 1.47 |
| 129 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 1.47 |
| 130 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.44 |
| 131 | 46,xy partial gonadal dysgenesis | Enrichment | NR5A1 | 1.44 |
| 132 | Lynch syndrome | Enrichment | MLH1 | 1.41 |
| 133 | Rare genetic intellectual disability | Enrichment | MTOR | 1.41 |
| 134 | Perrault syndrome 1 | Enrichment | FSHR | 1.38 |
| 135 | Gliosarcoma | Enrichment | ATM | 1.38 |
| 136 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.35 |
| 137 | Giant cell glioblastoma | Enrichment | ATM | 1.35 |
| 138 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.31 |
| 139 | Hepatocellular carcinoma | Enrichment | VDR | 1.25 |
| 140 | Pancreatic cancer | Enrichment | ATM | 1.19 |
| 141 | Bladder cancer | Enrichment | ATM | 1.13 |
| 142 | Prostate cancer | Enrichment | ATM | 1.13 |
| 143 | Lung cancer | Enrichment | MLH1 | 1.09 |
| 144 | Connective tissue disease | Enrichment | SMAD3 | 1.09 |
| 145 | Male infertility | Enrichment | NR5A1 | 1.06 |
| 146 | Cakut | Enrichment | NRIP1 | 1.06 |
| 147 | Fanconi anemia, complementation group a | Enrichment | RAD51 | 1.05 |
| 148 | Cerebral palsy | Enrichment | SYNE2 | 1.01 |
| 149 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3 | 0.96 |
| 150 | Spastic ataxia | Enrichment | SYNE2 | 0.88 |
| 151 | Myeloma, multiple | Enrichment | ATM | 0.86 |