| 1 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 6.16 |
| 2 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1, HIF1A, VHL | 5.84 |
| 3 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.91 |
| 4 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.91 |
| 5 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.91 |
| 6 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.91 |
| 7 | Colorectal cancer | Enrichment | AKT1, FGFR2, FGFR3, PIK3CA, SOX9 | 4.88 |
| 8 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.44 |
| 9 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.44 |
| 10 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2, STAT3 | 4.44 |
| 11 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 4.14 |
| 12 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.14 |
| 13 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.91 |
| 14 | Histiocytoid hemangioma | Enrichment | FOS, FOSB | 3.91 |
| 15 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.91 |
| 16 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.74 |
| 17 | Lung squamous cell carcinoma | Enrichment | FGFR3, PIK3CA | 3.74 |
| 18 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | EPAS1, VHL | 3.74 |
| 19 | Connective tissue disease | Enrichment | COL2A1, FGFR3, SOX9 | 3.72 |
| 20 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.66 |
| 21 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.66 |
| 22 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.66 |
| 23 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.66 |
| 24 | Nevus, epidermal | Enrichment | FGFR3, PIK3CA | 3.59 |
| 25 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.36 |
| 26 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 3.35 |
| 27 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 3.35 |
| 28 | Primary bone dysplasia | Enrichment | COL1A1, FGFR3 | 3.27 |
| 29 | Osteochondrodysplasia | Enrichment | COL1A1, FGFR3 | 3.18 |
| 30 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 3.18 |
| 31 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 3.18 |
| 32 | Hyper ige syndrome | Enrichment | STAT3 | 3.18 |
| 33 | Meningioma | Enrichment | AKT1, PIK3CA | 3.10 |
| 34 | Hypertelorism | Enrichment | COL1A1, FGFR2, PIK3CA | 3.09 |
| 35 | Primary ovarian insufficiency | Enrichment | JAK2, KDR, NTRK1 | 2.93 |
| 36 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.85 |
| 37 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.79 |
| 38 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.75 |
| 39 | Heart, malformation of | Enrichment | COL2A1, MAPK1 | 2.74 |
| 40 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL3A1 | 2.70 |
| 41 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.65 |
| 42 | Breast cancer | Enrichment | AKT1, JUN, PIK3CA | 2.63 |
| 43 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 2.61 |
| 44 | Acute promyelocytic leukemia | Enrichment | STAT3 | 2.54 |
| 45 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.45 |
| 46 | Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans | Enrichment | ACAN | 2.45 |
| 47 | Hypochondroplasia | Enrichment | FGFR3 | 2.45 |
| 48 | Macrodactyly | Enrichment | PIK3CA | 2.45 |
| 49 | Proteus syndrome | Enrichment | AKT1 | 2.45 |
| 50 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.45 |
| 51 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.45 |
| 52 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.45 |
| 53 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.45 |
| 54 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.45 |
| 55 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.45 |
| 56 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.45 |
| 57 | Muenke syndrome | Enrichment | FGFR3 | 2.45 |
| 58 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.45 |
| 59 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.45 |
| 60 | Czech dysplasia | Enrichment | COL2A1 | 2.45 |
| 61 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.45 |
| 62 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.45 |
| 63 | Kniest dysplasia | Enrichment | COL2A1 | 2.45 |
| 64 | Apert syndrome | Enrichment | FGFR2 | 2.45 |
| 65 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.45 |
| 66 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.45 |
| 67 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.45 |
| 68 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.45 |
| 69 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.45 |
| 70 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.45 |
| 71 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.45 |
| 72 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.45 |
| 73 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.45 |
| 74 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.45 |
| 75 | 46,xy sex reversal 10 | Enrichment | SOX9 | 2.45 |
| 76 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | Enrichment | P4HTM | 2.45 |
| 77 | 46,xx sex reversal 2 | Enrichment | SOX9 | 2.45 |
| 78 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.45 |
| 79 | Spondylometaepiphyseal dysplasia, short limb-hand type | Enrichment | DDR2 | 2.45 |
| 80 | Spondyloepimetaphyseal dysplasia, aggrecan type | Enrichment | ACAN | 2.45 |
| 81 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.45 |
| 82 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.45 |
| 83 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.45 |
| 84 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.45 |
| 85 | Spondyloepiphyseal dysplasia, kimberley type | Enrichment | ACAN | 2.45 |
| 86 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.45 |
| 87 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.45 |
| 88 | Erythrocytosis, familial, 4 | Enrichment | EPAS1 | 2.45 |
| 89 | Cowden syndrome 6 | Enrichment | AKT1 | 2.45 |
| 90 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.45 |
| 91 | Hartsfield syndrome | Enrichment | FGFR1 | 2.45 |
| 92 | Immunodeficiency 53 | Enrichment | RELB | 2.45 |
| 93 | Warburg-cinotti syndrome | Enrichment | DDR2 | 2.45 |
| 94 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.45 |
| 95 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.45 |
| 96 | Tufted angioma of skin | Enrichment | KDR | 2.45 |
| 97 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.45 |
| 98 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.45 |
| 99 | Hypospadias | Enrichment | PIK3CA | 2.45 |
| 100 | Capillary hemangioma | Enrichment | AKT3 | 2.45 |
| 101 | Multiple paragangliomas associated with polycythemia | Enrichment | EPAS1 | 2.45 |
| 102 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.45 |
| 103 | Rare venous malformation | Enrichment | PIK3CA | 2.45 |
| 104 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.45 |
| 105 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.45 |
| 106 | Hypochondrogenesis | Enrichment | COL2A1 | 2.45 |
| 107 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.45 |
| 108 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.45 |
| 109 | Aplasia cutis-enamel dysplasia syndrome | Enrichment | FOSL2 | 2.45 |
| 110 | Osteochondritis dissecans | Enrichment | ACAN | 2.45 |
| 111 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.45 |
| 112 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.45 |
| 113 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.45 |
| 114 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.45 |
| 115 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.45 |
| 116 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.45 |
| 117 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.45 |
| 118 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.45 |
| 119 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.45 |
| 120 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.45 |
| 121 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | Enrichment | ACAN | 2.45 |
| 122 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.45 |
| 123 | Macrodactyly of toe | Enrichment | PIK3CA | 2.45 |
| 124 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.45 |
| 125 | Retinal hemangioblastoma | Enrichment | VHL | 2.45 |
| 126 | Diffuse large b-cell lymphoma | Enrichment | STAT3 | 2.38 |
| 127 | Bladder cancer | Enrichment | FGFR3, PIK3CA | 2.33 |
| 128 | Ovarian cancer | Enrichment | AKT1, NTRK1, PIK3CA | 2.26 |
| 129 | Differentiated thyroid carcinoma | Enrichment | NTRK1 | 2.19 |
| 130 | Peripheral nervous system disease | Enrichment | NGF | 2.15 |
| 131 | Neuropathy | Enrichment | NGF | 2.15 |
| 132 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.15 |
| 133 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.15 |
| 134 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.15 |
| 135 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.15 |
| 136 | Metaphyseal chondrodysplasia, schmid type | Enrichment | COL10A1 | 2.15 |
| 137 | Campomelic dysplasia | Enrichment | SOX9 | 2.15 |
| 138 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1 | 2.15 |
| 139 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1 | 2.15 |
| 140 | Metaphyseal dysplasia, spahr type | Enrichment | MMP13 | 2.15 |
| 141 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 2.15 |
| 142 | Kyphomelic dysplasia | Enrichment | CCN2 | 2.15 |
| 143 | Spondyloepimetaphyseal dysplasia, missouri type | Enrichment | MMP13 | 2.15 |
| 144 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.15 |
| 145 | Cervical cancer | Enrichment | FGFR3 | 2.15 |
| 146 | Aural atresia, congenital | Enrichment | FGFR2 | 2.15 |
| 147 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.15 |
| 148 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.15 |
| 149 | Angioma, tufted | Enrichment | KDR | 2.15 |
| 150 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 2.15 |
| 151 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.15 |
| 152 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.15 |
| 153 | Thrombocythemia 3 | Enrichment | JAK2 | 2.15 |
| 154 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.15 |
| 155 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 2.15 |
| 156 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.15 |
| 157 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 2.15 |
| 158 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.15 |
| 159 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.15 |
| 160 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.15 |
| 161 | Aortic dissection | Enrichment | COL3A1 | 2.15 |
| 162 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.15 |
| 163 | Split hand-foot malformation | Enrichment | FGFR2 | 2.15 |
| 164 | Erythrocytosis, familial, 3 | Enrichment | EPAS1 | 2.15 |
| 165 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.15 |
| 166 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.15 |
| 167 | Cervix carcinoma | Enrichment | FGFR3 | 2.15 |
| 168 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.15 |
| 169 | Polycythemia | Enrichment | JAK2 | 2.15 |
| 170 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.15 |
| 171 | Metaphyseal anadysplasia | Enrichment | MMP13 | 2.15 |
| 172 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 2.15 |
| 173 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.15 |
| 174 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.15 |
| 175 | Acute leukemia of ambiguous lineage | Enrichment | VHL | 2.15 |
| 176 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.15 |
| 177 | Campomelic dysplasia and related disorders | Enrichment | SOX9 | 2.15 |
| 178 | Gastric cancer | Enrichment | FGFR2, PIK3CA | 2.00 |
| 179 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1 | 1.98 |
| 180 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.98 |
| 181 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.98 |
| 182 | Achondroplasia | Enrichment | FGFR3 | 1.98 |
| 183 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.98 |
| 184 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.98 |
| 185 | Larsen syndrome | Enrichment | FGFR3 | 1.98 |
| 186 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.98 |
| 187 | Polycythemia vera | Enrichment | JAK2 | 1.98 |
| 188 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.98 |
| 189 | Myasthenic syndrome, congenital, 6, presynaptic | Enrichment | VHL | 1.98 |
| 190 | 46,xx sex reversal 1 | Enrichment | SOX9 | 1.98 |
| 191 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.98 |
| 192 | Caffey disease | Enrichment | COL1A1 | 1.98 |
| 193 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.98 |
| 194 | Primary polycythemia | Enrichment | VHL | 1.98 |
| 195 | Hamartoma | Enrichment | FGFR3 | 1.98 |
| 196 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.98 |
| 197 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.98 |
| 198 | Spermatocytoma | Enrichment | FGFR3 | 1.98 |
| 199 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 1.98 |
| 200 | Enchondromatosis | Enrichment | HIF1A | 1.98 |
| 201 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.98 |
| 202 | Testicular cancer | Enrichment | FGFR3 | 1.98 |
| 203 | Keratoacanthoma | Enrichment | PIK3CA | 1.98 |
| 204 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 1.85 |
| 205 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.85 |
| 206 | Phenylketonuria | Enrichment | COL1A1 | 1.85 |
| 207 | Erythrocytosis, familial, 2 | Enrichment | VHL | 1.85 |
| 208 | Budd-chiari syndrome | Enrichment | JAK2 | 1.85 |
| 209 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.85 |
| 210 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.85 |
| 211 | Au-kline syndrome | Enrichment | VHL | 1.85 |
| 212 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.85 |
| 213 | Cerebrovascular disease | Enrichment | PIK3CA | 1.85 |
| 214 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.85 |
| 215 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 1.85 |
| 216 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.85 |
| 217 | Glioma | Enrichment | FGFR2 | 1.85 |
| 218 | Pseudomyogenic hemangioendothelioma | Enrichment | FOSB | 1.85 |
| 219 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.76 |
| 220 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.76 |
| 221 | Retinal detachment | Enrichment | COL2A1 | 1.76 |
| 222 | Fanconi anemia, complementation group d2 | Enrichment | VHL | 1.76 |
| 223 | Von hippel-lindau syndrome | Enrichment | VHL | 1.76 |
| 224 | Myeloproliferative neoplasm | Enrichment | JAK2 | 1.76 |
| 225 | Holoprosencephaly | Enrichment | FGFR1 | 1.76 |
| 226 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | SOX9 | 1.76 |
| 227 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 1.76 |
| 228 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.76 |
| 229 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.76 |
| 230 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.68 |
| 231 | Spondyloepiphyseal dysplasia with congenital joint dislocations | Enrichment | ACAN | 1.68 |
| 232 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.68 |
| 233 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.68 |
| 234 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.68 |
| 235 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.68 |
| 236 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.68 |
| 237 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.68 |
| 238 | Pierre robin syndrome | Enrichment | SOX9 | 1.68 |
| 239 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.68 |
| 240 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.68 |
| 241 | Hemangioma, capillary infantile | Enrichment | KDR | 1.68 |
| 242 | Keratoconus | Enrichment | COL1A1 | 1.68 |
| 243 | Limited scleroderma | Enrichment | CCN2 | 1.68 |
| 244 | Classic ehlers-danlos syndrome | Enrichment | COL1A1 | 1.68 |
| 245 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.68 |
| 246 | Autosomal dominant secondary polycythemia | Enrichment | EPAS1 | 1.68 |
| 247 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.61 |
| 248 | Myelofibrosis | Enrichment | JAK2 | 1.61 |
| 249 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.61 |
| 250 | Renal cell carcinoma, papillary, 1 | Enrichment | VHL | 1.61 |
| 251 | Essential thrombocythemia | Enrichment | JAK2 | 1.61 |
| 252 | Gallbladder cancer | Enrichment | PIK3CA | 1.61 |
| 253 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.61 |
| 254 | Megacolon | Enrichment | AKT3 | 1.61 |
| 255 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.61 |
| 256 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.55 |
| 257 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.50 |
| 258 | Arteriovenous malformation | Enrichment | PIK3CA | 1.50 |
| 259 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.50 |
| 260 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.50 |
| 261 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.50 |
| 262 | Marfan syndrome | Enrichment | COL2A1 | 1.46 |
| 263 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.46 |
| 264 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.46 |
| 265 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.46 |
| 266 | Stickler syndrome | Enrichment | COL2A1 | 1.46 |
| 267 | Polymicrogyria | Enrichment | AKT3 | 1.46 |
| 268 | 46,xy complete gonadal dysgenesis | Enrichment | SOX9 | 1.42 |
| 269 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.42 |
| 270 | Specific learning disability | Enrichment | MAPK1 | 1.42 |
| 271 | Septooptic dysplasia | Enrichment | FGFR1 | 1.38 |
| 272 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.38 |
| 273 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.38 |
| 274 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1 | 1.35 |
| 275 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.31 |
| 276 | Osteoporosis | Enrichment | COL1A1 | 1.31 |
| 277 | Pheochromocytoma | Enrichment | VHL | 1.31 |
| 278 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.31 |
| 279 | 46,xy partial gonadal dysgenesis | Enrichment | SOX9 | 1.31 |
| 280 | Renal cell carcinoma, nonpapillary | Enrichment | VHL | 1.29 |
| 281 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 1.29 |
| 282 | Hydrocephalus | Enrichment | FGFR2 | 1.29 |
| 283 | Myopia | Enrichment | COL2A1 | 1.29 |
| 284 | Lynch syndrome | Enrichment | PIK3CA | 1.29 |
| 285 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.26 |
| 286 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.26 |
| 287 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.21 |
| 288 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.21 |
| 289 | Hepatoblastoma | Enrichment | FGFR3 | 1.14 |
| 290 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | VHL | 1.14 |
| 291 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.12 |
| 292 | Tooth agenesis | Enrichment | FGFR1 | 1.12 |
| 293 | Brittle bone disorder | Enrichment | COL1A1 | 1.11 |
| 294 | Kallmann syndrome | Enrichment | FGFR1 | 1.11 |
| 295 | Scoliosis | Enrichment | COL2A1 | 1.09 |
| 296 | Tetralogy of fallot | Enrichment | KDR | 1.05 |
| 297 | Prostate cancer | Enrichment | PIK3CA | 1.01 |
| 298 | Stargardt disease 1 | Enrichment | COL2A1 | 1.00 |
| 299 | Lung cancer | Enrichment | PIK3CA | 0.97 |
| 300 | Fanconi anemia, complementation group a | Enrichment | VHL | 0.93 |
| 301 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.88 |
| 302 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.86 |
| 303 | Nephrotic syndrome | Enrichment | RUNX2 | 0.85 |
| 304 | Myeloma, multiple | Enrichment | FGFR3 | 0.74 |
| 305 | Congenital nervous system abnormality | Enrichment | FGFR3 | 0.50 |
| 306 | Nervous system disease | Enrichment | FGFR3 | 0.50 |
| 307 | Microcephaly | Enrichment | MAPK1 | 0.45 |
| 308 | Inherited cancer-predisposing syndrome | Enrichment | VHL | 0.43 |
| 309 | Hereditary retinal dystrophy | Enrichment | COL2A1 | 0.19 |
| 310 | Fundus dystrophy | Enrichment | COL2A1 | 0.19 |