| 1 | Hypophosphatemic rickets | Enrichment | DMP1, ENPP1, FGF23, PHEX | 9.66 |
| 2 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23, GALNT3, KL | 8.43 |
| 3 | Hypophosphatemic rickets with hypercalciuria, hereditary | Enrichment | SLC34A1, SLC34A3 | 5.60 |
| 4 | Autosomal recessive hypophosphatemic rickets | Enrichment | DMP1, ENPP1 | 5.60 |
| 5 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | Enrichment | SLC34A1, SLC34A3 | 5.60 |
| 6 | Autosomal recessive infantile hypercalcemia | Enrichment | CYP24A1, SLC34A1 | 5.60 |
| 7 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 5.12 |
| 8 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 5.12 |
| 9 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23, PHEX | 5.12 |
| 10 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.82 |
| 11 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 4.60 |
| 12 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 4.28 |
| 13 | Giant cell glioblastoma | Enrichment | FGFR3, ROS1 | 3.47 |
| 14 | Colorectal cancer | Enrichment | CCND1, FGFR2, FGFR3 | 3.44 |
| 15 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 3.33 |
| 16 | Bladder cancer | Enrichment | CDKN1A, FGFR3 | 3.00 |
| 17 | Hypochondroplasia | Enrichment | FGFR3 | 2.79 |
| 18 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.79 |
| 19 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.79 |
| 20 | Hypophosphatemic rickets, autosomal recessive, 1 | Enrichment | DMP1 | 2.79 |
| 21 | Muenke syndrome | Enrichment | FGFR3 | 2.79 |
| 22 | Raine syndrome | Enrichment | FAM20C | 2.79 |
| 23 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.79 |
| 24 | Hypophosphatasia, adult | Enrichment | ALPL | 2.79 |
| 25 | Apert syndrome | Enrichment | FGFR2 | 2.79 |
| 26 | Hypophosphatasia, childhood | Enrichment | ALPL | 2.79 |
| 27 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.79 |
| 28 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.79 |
| 29 | Fanconi renotubular syndrome 2 | Enrichment | SLC34A1 | 2.79 |
| 30 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.79 |
| 31 | Arterial calcification, generalized, of infancy, 1 | Enrichment | ENPP1 | 2.79 |
| 32 | Tumoral calcinosis, hyperphosphatemic, familial, 3 | Enrichment | KL | 2.79 |
| 33 | Hypercalcemia, infantile, 2 | Enrichment | SLC34A1 | 2.79 |
| 34 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.79 |
| 35 | Ossification of the posterior longitudinal ligament of spine | Enrichment | ENPP1 | 2.79 |
| 36 | Hypophosphatemic rickets, autosomal recessive, 2 | Enrichment | ENPP1 | 2.79 |
| 37 | Cole disease | Enrichment | ENPP1 | 2.79 |
| 38 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.79 |
| 39 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 2.79 |
| 40 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.79 |
| 41 | Prenatal benign hypophosphatasia | Enrichment | ALPL | 2.79 |
| 42 | Autosomal recessive hypophosphatemic bone disease | Enrichment | SLC34A3 | 2.79 |
| 43 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.79 |
| 44 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.79 |
| 45 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.79 |
| 46 | Hypopigmentation-punctate palmoplantar keratoderma syndrome | Enrichment | ENPP1 | 2.79 |
| 47 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.79 |
| 48 | Hypoparathyroidism, familial isolated, 1 | Enrichment | PTH | 2.49 |
| 49 | Corticosterone methyloxidase type i deficiency | Enrichment | CYP11B2 | 2.49 |
| 50 | Cervical cancer | Enrichment | FGFR3 | 2.49 |
| 51 | Corticosterone methyloxidase type ii deficiency | Enrichment | CYP11B2 | 2.49 |
| 52 | Hypercalcemia, infantile, 1 | Enrichment | CYP24A1 | 2.49 |
| 53 | Aural atresia, congenital | Enrichment | FGFR2 | 2.49 |
| 54 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.49 |
| 55 | Pfeiffer syndrome | Enrichment | FGFR2 | 2.49 |
| 56 | Jackson-weiss syndrome | Enrichment | FGFR2 | 2.49 |
| 57 | Factor xii deficiency | Enrichment | SLC34A1 | 2.49 |
| 58 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.49 |
| 59 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.49 |
| 60 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.49 |
| 61 | Alpha-thalassemia/impaired intellectual development syndrome, x-linked | Enrichment | ALPL | 2.49 |
| 62 | Hypophosphatemia | Enrichment | PHEX | 2.49 |
| 63 | Split hand-foot malformation | Enrichment | FGFR2 | 2.49 |
| 64 | Hypophosphatasia | Enrichment | ALPL | 2.49 |
| 65 | Cervix carcinoma | Enrichment | FGFR3 | 2.49 |
| 66 | Alpha thalassemia-x-linked intellectual disability syndrome | Enrichment | ALPL | 2.49 |
| 67 | Dystonia 28, childhood-onset | Enrichment | ENPP1 | 2.49 |
| 68 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.49 |
| 69 | Arterial calcification of infancy | Enrichment | ENPP1 | 2.49 |
| 70 | Familial hypoaldosteronism | Enrichment | CYP11B2 | 2.49 |
| 71 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis | Enrichment | SLC34A1 | 2.49 |
| 72 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.49 |
| 73 | Early-onset familial hypoaldosteronism | Enrichment | CYP11B2 | 2.49 |
| 74 | Myeloma, multiple | Enrichment | CCND1, FGFR3 | 2.44 |
| 75 | Achondroplasia | Enrichment | FGFR3 | 2.31 |
| 76 | Larsen syndrome | Enrichment | FGFR3 | 2.31 |
| 77 | Hypophosphatasia, infantile | Enrichment | ALPL | 2.31 |
| 78 | Vitamin d hydroxylation-deficient rickets, type 1a | Enrichment | CYP27B1 | 2.31 |
| 79 | Familial isolated hypoparathyroidism | Enrichment | PTH | 2.31 |
| 80 | Hamartoma | Enrichment | FGFR3 | 2.31 |
| 81 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.31 |
| 82 | Spermatocytoma | Enrichment | FGFR3 | 2.31 |
| 83 | Testicular cancer | Enrichment | FGFR3 | 2.31 |
| 84 | Hypophosphatemic rickets, x-linked dominant | Enrichment | PHEX | 2.19 |
| 85 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 2.19 |
| 86 | Cholangiocarcinoma | Enrichment | ROS1 | 2.19 |
| 87 | Mantle cell lymphoma | Enrichment | CCND1 | 2.19 |
| 88 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 2.19 |
| 89 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 2.19 |
| 90 | Primary hyperparathyroidism | Enrichment | PTH | 2.19 |
| 91 | Glioma | Enrichment | FGFR2 | 2.19 |
| 92 | Primary fanconi renotubular syndrome | Enrichment | SLC34A1 | 2.19 |
| 93 | Von hippel-lindau syndrome | Enrichment | CCND1 | 2.09 |
| 94 | Vitamin d-dependent rickets, type 2a | Enrichment | PHEX | 2.09 |
| 95 | Hyperaldosteronism, familial, type i | Enrichment | CYP11B2 | 2.01 |
| 96 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 2.01 |
| 97 | Testicular germ cell tumor | Enrichment | FGFR3 | 2.01 |
| 98 | Pseudoxanthoma elasticum | Enrichment | ENPP1 | 2.01 |
| 99 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 2.01 |
| 100 | 46,xy disorder of sex development | Enrichment | FGFR3 | 2.01 |
| 101 | Nevus, epidermal | Enrichment | FGFR3 | 1.95 |
| 102 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.95 |
| 103 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.79 |
| 104 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.79 |
| 105 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.79 |
| 106 | Nephrocalcinosis | Enrichment | SLC34A1 | 1.79 |
| 107 | Nephrolithiasis | Enrichment | SLC34A1 | 1.79 |
| 108 | Primary bone dysplasia | Enrichment | FGFR3 | 1.79 |
| 109 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.75 |
| 110 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.71 |
| 111 | Multiple sclerosis | Enrichment | CYP27B1 | 1.65 |
| 112 | Lung cancer susceptibility 3 | Enrichment | ROS1 | 1.65 |
| 113 | Osteogenesis imperfecta, type iii | Enrichment | SLC34A1 | 1.62 |
| 114 | Hydrocephalus | Enrichment | FGFR2 | 1.62 |
| 115 | Gliosarcoma | Enrichment | FGFR3 | 1.59 |
| 116 | Endometrial cancer | Enrichment | FGFR2 | 1.47 |
| 117 | Hepatoblastoma | Enrichment | FGFR3 | 1.47 |
| 118 | Brittle bone disorder | Enrichment | ALPL | 1.44 |
| 119 | Connective tissue disease | Enrichment | FGFR3 | 1.30 |
| 120 | Systemic lupus erythematosus | Enrichment | SPP1 | 1.21 |
| 121 | Type 2 diabetes mellitus | Enrichment | ENPP1 | 1.18 |
| 122 | Gastric cancer | Enrichment | FGFR2 | 1.17 |
| 123 | Body mass index quantitative trait locus 11 | Enrichment | ENPP1 | 1.11 |
| 124 | Hypertelorism | Enrichment | FGFR2 | 1.09 |
| 125 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.80 |
| 126 | Nervous system disease | Enrichment | FGFR3 | 0.80 |