| 1 | Craniosynostosis | Enrichment | GLI2, GLI3, SMAD6 | 4.88 |
| 2 | Malignant epithelioid hemangioendothelioma | Enrichment | WWTR1, YAP1 | 4.75 |
| 3 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, HEY2, SMAD4 | 3.83 |
| 4 | Lip and oral cavity carcinoma | Enrichment | ABL1, RB1 | 3.71 |
| 5 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, SP7 | 3.64 |
| 6 | Osteoporosis | Enrichment | COL1A1, SRC | 3.57 |
| 7 | Culler-jones syndrome | Enrichment | GLI2 | 3.43 |
| 8 | Chromosome 2q37 deletion syndrome | Enrichment | HDAC4 | 3.43 |
| 9 | Acrocapitofemoral dysplasia | Enrichment | IHH | 3.43 |
| 10 | Holoprosencephaly 9 | Enrichment | GLI2 | 3.43 |
| 11 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | Enrichment | HDAC4 | 3.43 |
| 12 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 3.43 |
| 13 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 3.13 |
| 14 | White-sutton syndrome | Enrichment | GLI2 | 3.13 |
| 15 | Cleidocranial dysplasia 2 | Enrichment | CBFB | 3.13 |
| 16 | Heart, malformation of | Enrichment | MAPK1, SMAD6 | 3.09 |
| 17 | Brachydactyly, type a1 | Enrichment | IHH | 2.96 |
| 18 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 2.96 |
| 19 | Cleidocranial dysplasia | Enrichment | RUNX2 | 2.96 |
| 20 | Microcephaly | Enrichment | ABL1, MAPK1, SATB2 | 2.89 |
| 21 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | CBFB | 2.83 |
| 22 | Pallister-hall syndrome | Enrichment | GLI3 | 2.75 |
| 23 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 2.75 |
| 24 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | Enrichment | HDAC6 | 2.75 |
| 25 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.75 |
| 26 | Androgen insensitivity, partial | Enrichment | AR | 2.75 |
| 27 | Cataract 21, multiple types | Enrichment | MAF | 2.75 |
| 28 | Polydactyly, preaxial iv | Enrichment | GLI3 | 2.75 |
| 29 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.75 |
| 30 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.75 |
| 31 | Ayme-gripp syndrome | Enrichment | MAF | 2.75 |
| 32 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.75 |
| 33 | Thrombocytopenia 6 | Enrichment | SRC | 2.75 |
| 34 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.75 |
| 35 | Trilateral retinoblastoma | Enrichment | RB1 | 2.75 |
| 36 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.75 |
| 37 | Lung oat cell carcinoma | Enrichment | RB1 | 2.75 |
| 38 | Hirschsprung disease 1 | Enrichment | GLI3, IHH | 2.68 |
| 39 | Radioulnar synostosis, nonsyndromic | Enrichment | SMAD6 | 2.63 |
| 40 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.63 |
| 41 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 2.53 |
| 42 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.45 |
| 43 | Craniodiaphyseal dysplasia | Enrichment | SP7 | 2.45 |
| 44 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 2.45 |
| 45 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.45 |
| 46 | Osteogenesis imperfecta, type xii | Enrichment | SP7 | 2.45 |
| 47 | Developmental and epileptic encephalopathy 28 | Enrichment | MAF | 2.45 |
| 48 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.45 |
| 49 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | MAF | 2.45 |
| 50 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.45 |
| 51 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.45 |
| 52 | 46,xy sex reversal 1 | Enrichment | AR | 2.45 |
| 53 | Androgen insensitivity syndrome | Enrichment | AR | 2.45 |
| 54 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 2.45 |
| 55 | Tibial hemimelia | Enrichment | GLI3 | 2.45 |
| 56 | Hypospadias 1, x-linked | Enrichment | AR | 2.45 |
| 57 | Synpolydactyly | Enrichment | GLI3 | 2.45 |
| 58 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.45 |
| 59 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 2.45 |
| 60 | Postaxial polydactyly type b | Enrichment | GLI3 | 2.45 |
| 61 | Posterior hypospadias | Enrichment | AR | 2.45 |
| 62 | Familial retinoblastoma | Enrichment | RB1 | 2.45 |
| 63 | Myhre syndrome | Enrichment | SMAD4 | 2.33 |
| 64 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.33 |
| 65 | Aortic valve disease 2 | Enrichment | SMAD6 | 2.33 |
| 66 | Craniosynostosis 7 | Enrichment | SMAD6 | 2.33 |
| 67 | Radioulnar synostosis | Enrichment | SMAD6 | 2.33 |
| 68 | Retinoblastoma | Enrichment | RB1 | 2.28 |
| 69 | Acrocallosal syndrome | Enrichment | GLI3 | 2.28 |
| 70 | Aarskog-scott syndrome | Enrichment | GLI3 | 2.28 |
| 71 | Osteogenic sarcoma | Enrichment | RB1 | 2.28 |
| 72 | Glass syndrome | Enrichment | SATB2 | 2.28 |
| 73 | Caffey disease | Enrichment | COL1A1 | 2.28 |
| 74 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.28 |
| 75 | Hypotrichosis 8 | Enrichment | RB1 | 2.28 |
| 76 | Umbilical hernia | Enrichment | GLI3 | 2.28 |
| 77 | Squamous cell carcinoma | Enrichment | RB1 | 2.28 |
| 78 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 2.28 |
| 79 | Bone osteosarcoma | Enrichment | RB1 | 2.28 |
| 80 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 2.28 |
| 81 | Septopreoptic holoprosencephaly | Enrichment | GLI2 | 2.26 |
| 82 | Midline interhemispheric variant of holoprosencephaly | Enrichment | GLI2 | 2.26 |
| 83 | Thrombocytopenia | Enrichment | SMAD4, SRC | 2.25 |
| 84 | Microform holoprosencephaly | Enrichment | GLI2 | 2.23 |
| 85 | Lobar holoprosencephaly | Enrichment | GLI2 | 2.23 |
| 86 | Alobar holoprosencephaly | Enrichment | GLI2 | 2.20 |
| 87 | Semilobar holoprosencephaly | Enrichment | GLI2 | 2.18 |
| 88 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 2.15 |
| 89 | Small cell cancer of the lung | Enrichment | RB1 | 2.15 |
| 90 | Phenylketonuria | Enrichment | COL1A1 | 2.15 |
| 91 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 2.15 |
| 92 | Lynch syndrome 4 | Enrichment | RB1 | 2.15 |
| 93 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 2.15 |
| 94 | Congenital blue dot cataract | Enrichment | MAF | 2.15 |
| 95 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 2.15 |
| 96 | Pseudomyogenic hemangioendothelioma | Enrichment | WWTR1 | 2.15 |
| 97 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 2.15 |
| 98 | Myeloma, multiple | Enrichment | HDAC4, YAP1 | 2.12 |
| 99 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR, GLI2 | 2.12 |
| 100 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.98 |
| 101 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.98 |
| 102 | Keratoconus | Enrichment | COL1A1 | 1.98 |
| 103 | Classic ehlers-danlos syndrome | Enrichment | COL1A1 | 1.98 |
| 104 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.93 |
| 105 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.91 |
| 106 | Myelofibrosis | Enrichment | SRC | 1.91 |
| 107 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.91 |
| 108 | Moyamoya angiopathy | Enrichment | ABL1 | 1.91 |
| 109 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.91 |
| 110 | Ovarian cancer | Enrichment | AR, RB1 | 1.87 |
| 111 | Cataract - microcornea syndrome | Enrichment | MAF | 1.85 |
| 112 | Difference of sex development | Enrichment | AR | 1.85 |
| 113 | Nephrotic syndrome | Enrichment | RUNX2 | 1.80 |
| 114 | Gallbladder cancer | Enrichment | SMAD4 | 1.79 |
| 115 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.79 |
| 116 | Cataract 30, multiple types | Enrichment | MAF | 1.76 |
| 117 | Primary bone dysplasia | Enrichment | COL1A1 | 1.76 |
| 118 | Colorectal cancer | Enrichment | SMAD4, SRC | 1.75 |
| 119 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.71 |
| 120 | Osteochondrodysplasia | Enrichment | COL1A1 | 1.71 |
| 121 | Specific learning disability | Enrichment | MAPK1 | 1.71 |
| 122 | Polydactyly | Enrichment | SMAD6 | 1.68 |
| 123 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.64 |
| 124 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 1.64 |
| 125 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.61 |
| 126 | Heart disease | Enrichment | ABL1 | 1.61 |
| 127 | Coloboma of macula | Enrichment | YAP1 | 1.58 |
| 128 | Polydactyly, postaxial, type a1 | Enrichment | GLI3 | 1.58 |
| 129 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 1.58 |
| 130 | Cleft palate, isolated | Enrichment | SATB2 | 1.53 |
| 131 | Aortic valve disease 1 | Enrichment | SMAD6 | 1.52 |
| 132 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD6 | 1.49 |
| 133 | Ehlers-danlos syndrome | Enrichment | COL1A1 | 1.48 |
| 134 | Inherited cancer-predisposing syndrome | Enrichment | RB1, SMAD4 | 1.41 |
| 135 | Brittle bone disorder | Enrichment | COL1A1 | 1.40 |
| 136 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.40 |
| 137 | Developmental and epileptic encephalopathy 1 | Enrichment | MAF | 1.36 |
| 138 | Tetralogy of fallot | Enrichment | HEY2 | 1.35 |
| 139 | Bladder cancer | Enrichment | RB1 | 1.30 |
| 140 | Prostate cancer | Enrichment | AR | 1.30 |
| 141 | Pancreatic cancer | Enrichment | SMAD4 | 1.24 |
| 142 | Male infertility | Enrichment | AR | 1.23 |
| 143 | Dystonia | Enrichment | SATB2 | 1.22 |
| 144 | Benign epilepsy with centrotemporal spikes | Enrichment | MAF | 1.15 |
| 145 | Centralopathic epilepsy | Enrichment | MAF | 1.13 |
| 146 | West syndrome | Enrichment | MAF | 1.12 |
| 147 | Hypertelorism | Enrichment | COL1A1 | 1.05 |
| 148 | Gastric cancer | Enrichment | SMAD4 | 1.01 |
| 149 | Autism spectrum disorder | Enrichment | SATB2 | 0.75 |