| 1 | Microform holoprosencephaly | Enrichment | CDON, GAS1, GLI2, PTCH1, SHH, SUFU | 10.39 |
| 2 | Septopreoptic holoprosencephaly | Enrichment | CDON, GAS1, GLI2, PTCH1, SHH | 9.18 |
| 3 | Midline interhemispheric variant of holoprosencephaly | Enrichment | CDON, GAS1, GLI2, PTCH1, SHH | 9.18 |
| 4 | Lobar holoprosencephaly | Enrichment | CDON, GAS1, GLI2, PTCH1, SHH | 9.01 |
| 5 | Alobar holoprosencephaly | Enrichment | CDON, GAS1, GLI2, PTCH1, SHH | 8.88 |
| 6 | Semilobar holoprosencephaly | Enrichment | CDON, GAS1, GLI2, PTCH1, SHH | 8.73 |
| 7 | Ellis-van creveld syndrome | Enrichment | EVC2, GLI1, PRKACA, PRKACB | 8.00 |
| 8 | Medulloblastoma | Enrichment | GPR161, PTCH1, PTCH2, SUFU | 7.11 |
| 9 | Basal cell nevus syndrome 1 | Enrichment | PTCH1, PTCH2, SUFU | 6.26 |
| 10 | Postaxial polydactyly type b | Enrichment | GLI1, GLI3 | 5.03 |
| 11 | Polydactyly, postaxial, type a1 | Enrichment | GLI1, GLI3, PTCH1 | 4.91 |
| 12 | Acrocallosal syndrome | Enrichment | GLI3, KIF7 | 4.55 |
| 13 | Polydactyly, preaxial ii | Enrichment | PTCH1, SHH | 4.25 |
| 14 | Hirschsprung disease 1 | Enrichment | GLI3, IHH, SMO | 4.02 |
| 15 | Basal cell carcinoma 1 | Enrichment | PTCH1, PTCH2 | 3.86 |
| 16 | Meningioma | Enrichment | SMO, SUFU | 3.22 |
| 17 | Pituitary stalk interruption syndrome | Enrichment | CDON, GPR161 | 3.08 |
| 18 | Macs syndrome | Enrichment | PTCH1, SHH | 2.77 |
| 19 | Craniosynostosis | Enrichment | GLI2, GLI3 | 2.77 |
| 20 | Jeune thoracic dystrophy | Enrichment | EVC2, GRK2 | 2.57 |
| 21 | Holoprosencephaly 3 | Enrichment | SHH | 2.51 |
| 22 | Pallister-hall syndrome | Enrichment | GLI3 | 2.51 |
| 23 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 2.51 |
| 24 | 46,xy sex reversal 7 | Enrichment | DHH | 2.51 |
| 25 | Curry-jones syndrome | Enrichment | SMO | 2.51 |
| 26 | Schilbach-rott syndrome | Enrichment | PTCH1 | 2.51 |
| 27 | Polydactyly, preaxial iv | Enrichment | GLI3 | 2.51 |
| 28 | Hydrolethalus syndrome 2 | Enrichment | KIF7 | 2.51 |
| 29 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.51 |
| 30 | Polydactyly, preaxial i | Enrichment | GLI1 | 2.51 |
| 31 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.51 |
| 32 | Donnai-barrow syndrome | Enrichment | LRP2 | 2.51 |
| 33 | Pseudohypoaldosteronism, type iie | Enrichment | CUL3 | 2.51 |
| 34 | Advanced sleep phase syndrome, familial, 2 | Enrichment | CSNK1D | 2.51 |
| 35 | Culler-jones syndrome | Enrichment | GLI2 | 2.51 |
| 36 | Nabais sa-de vries syndrome, type 2 | Enrichment | SPOP | 2.51 |
| 37 | Polydactyly, postaxial, type a8 | Enrichment | GLI1 | 2.51 |
| 38 | Joubert syndrome 32 | Enrichment | SUFU | 2.51 |
| 39 | Al-gazali-bakalinova syndrome | Enrichment | KIF7 | 2.51 |
| 40 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.51 |
| 41 | Acrocapitofemoral dysplasia | Enrichment | IHH | 2.51 |
| 42 | Holoprosencephaly 9 | Enrichment | GLI2 | 2.51 |
| 43 | Holoprosencephaly 11 | Enrichment | CDON | 2.51 |
| 44 | Nabais sa-de vries syndrome, type 1 | Enrichment | SPOP | 2.51 |
| 45 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.51 |
| 46 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.51 |
| 47 | Neurodevelopmental disorder with or without autism or seizures | Enrichment | CUL3 | 2.51 |
| 48 | Multiple epiphyseal dysplasia, al-gazali type | Enrichment | KIF7 | 2.51 |
| 49 | Prolactin-producing pituitary gland adenoma | Enrichment | LRP2 | 2.51 |
| 50 | Turner syndrome | Enrichment | PTCH1 | 2.51 |
| 51 | Monosomy 9q22.3 | Enrichment | PTCH1 | 2.51 |
| 52 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 2.51 |
| 53 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.51 |
| 54 | Asphyxiating thoracic dystrophy | Enrichment | EVC2, GRK2 | 2.47 |
| 55 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | EVC2, GRK2 | 2.33 |
| 56 | Pallister-hall-like syndrome | Enrichment | SMO | 2.21 |
| 57 | 46,xy gonadal dysgenesis with minifascicular neuropathy | Enrichment | DHH | 2.21 |
| 58 | Pseudohypoaldosteronism, type i, autosomal dominant | Enrichment | CUL3 | 2.21 |
| 59 | Solitary median maxillary central incisor | Enrichment | SHH | 2.21 |
| 60 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.21 |
| 61 | White-sutton syndrome | Enrichment | GLI2 | 2.21 |
| 62 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.21 |
| 63 | Tibial hemimelia | Enrichment | GLI3 | 2.21 |
| 64 | Synpolydactyly | Enrichment | GLI3 | 2.21 |
| 65 | Congenital fibrosarcoma | Enrichment | SUFU | 2.21 |
| 66 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.21 |
| 67 | Basal cell nevus syndrome 2 | Enrichment | SUFU | 2.21 |
| 68 | Non-syndromic syndactyly | Enrichment | LRP2 | 2.21 |
| 69 | Isolated radial hemimelia | Enrichment | SHH | 2.21 |
| 70 | Commissural facial cleft | Enrichment | PTCH2 | 2.21 |
| 71 | Brachydactyly, type a1 | Enrichment | IHH | 2.03 |
| 72 | Pseudohypoaldosteronism, type iia | Enrichment | CUL3 | 2.03 |
| 73 | Syndactyly, type iv | Enrichment | SHH | 2.03 |
| 74 | Aarskog-scott syndrome | Enrichment | GLI3 | 2.03 |
| 75 | Holoprosencephaly 7 | Enrichment | PTCH1 | 2.03 |
| 76 | Umbilical hernia | Enrichment | GLI3 | 2.03 |
| 77 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 2.03 |
| 78 | Hydrolethalus syndrome | Enrichment | KIF7 | 2.03 |
| 79 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 2.03 |
| 80 | Desmoplastic/nodular medulloblastoma | Enrichment | SUFU | 2.03 |
| 81 | Advanced sleep phase syndrome | Enrichment | CSNK1D | 2.03 |
| 82 | Schizencephaly | Enrichment | SHH | 1.91 |
| 83 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.91 |
| 84 | Mantle cell lymphoma | Enrichment | CCND1 | 1.91 |
| 85 | Prolactinoma | Enrichment | LRP2 | 1.91 |
| 86 | Oculomotor apraxia | Enrichment | SUFU | 1.91 |
| 87 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | KIF7 | 1.91 |
| 88 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.81 |
| 89 | Follicular lymphoma | Enrichment | BCL2 | 1.81 |
| 90 | Weyers acrofacial dysostosis | Enrichment | EVC2 | 1.73 |
| 91 | Congenital hydrocephalus | Enrichment | PTCH1 | 1.67 |
| 92 | Overgrowth syndrome | Enrichment | PTCH1 | 1.67 |
| 93 | Short-rib thoracic dysplasia 12 | Enrichment | EVC2 | 1.61 |
| 94 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 1.61 |
| 95 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.52 |
| 96 | Orofaciodigital syndrome vi | Enrichment | KIF7 | 1.47 |
| 97 | Meningioma, familial | Enrichment | SUFU | 1.47 |
| 98 | 46,xy complete gonadal dysgenesis | Enrichment | DHH | 1.47 |
| 99 | Septooptic dysplasia | Enrichment | SHH | 1.44 |
| 100 | Short-rib thoracic dysplasia 6 with or without polydactyly | Enrichment | EVC2 | 1.44 |
| 101 | Microphthalmia/coloboma 12 | Enrichment | CDON | 1.40 |
| 102 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 1.40 |
| 103 | Bardet-biedl syndrome 1 | Enrichment | KIF7 | 1.40 |
| 104 | Nk-cell enteropathy | Enrichment | CUL3 | 1.40 |
| 105 | Coloboma of macula | Enrichment | CDON | 1.34 |
| 106 | Hydrocephalus, congenital, 1 | Enrichment | KIF7 | 1.31 |
| 107 | Rhabdomyosarcoma | Enrichment | PTCH1 | 1.31 |
| 108 | Inherited cancer-predisposing syndrome | Enrichment | PTCH1, SUFU | 1.20 |
| 109 | Microphthalmia | Enrichment | PTCH1 | 1.18 |
| 110 | Developmental and epileptic encephalopathy 1 | Enrichment | CSNK1E | 1.13 |
| 111 | Strabismus | Enrichment | KIF7 | 1.09 |
| 112 | Meckel syndrome, type 1 | Enrichment | EVC2 | 1.07 |
| 113 | Isolated joubert syndrome | Enrichment | SUFU | 1.05 |
| 114 | West syndrome | Enrichment | CSNK1E | 0.89 |
| 115 | Hereditary breast ovarian cancer syndrome | Enrichment | PTCH1 | 0.80 |
| 116 | Myeloma, multiple | Enrichment | CCND1 | 0.80 |
| 117 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GLI2 | 0.80 |
| 118 | Autism | Enrichment | SHH | 0.70 |
| 119 | Breast cancer | Enrichment | PTCH2 | 0.68 |
| 120 | Colorectal cancer | Enrichment | CCND1 | 0.63 |
| 121 | Ovarian cancer | Enrichment | PTCH1 | 0.57 |
| 122 | Autism spectrum disorder | Enrichment | CUL3 | 0.54 |
| 123 | Complex neurodevelopmental disorder | Enrichment | CUL3 | 0.49 |
| 124 | Hereditary retinal dystrophy | Enrichment | LRP2 | 0.22 |
| 125 | Fundus dystrophy | Enrichment | LRP2 | 0.22 |