| 1 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 9.50 |
| 2 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 9.50 |
| 3 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 | 9.35 |
| 4 | Collagen vi-related dystrophies | Enrichment | COL6A1, COL6A2, COL6A3 | 8.01 |
| 5 | Intermediate collagen vi-related muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 8.01 |
| 6 | Bethlem muscular dystrophy | Enrichment | COL6A1, COL6A2, COL6A3 | 7.41 |
| 7 | Ullrich congenital muscular dystrophy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 7.01 |
| 8 | Bethlem myopathy 1a | Enrichment | COL6A1, COL6A2, COL6A3 | 6.47 |
| 9 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2, PPIB | 6.47 |
| 10 | Connective tissue disease | Enrichment | COL11A1, COL2A1, COL5A1, FGFR3 | 6.17 |
| 11 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2, FGFR3 | 5.94 |
| 12 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2, FGFR3 | 5.80 |
| 13 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, COL5A1, COL5A2 | 5.61 |
| 14 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2, PPIB | 5.56 |
| 15 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2, PPIB | 5.36 |
| 16 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL11A2, COL2A1 | 5.33 |
| 17 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL11A2, COL2A1 | 5.33 |
| 18 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.33 |
| 19 | Fibrochondrogenesis | Enrichment | COL11A1, COL11A2 | 5.33 |
| 20 | Recessive dystrophic epidermolysis bullosa | Enrichment | COL7A1, MMP1 | 5.33 |
| 21 | Stickler syndrome, type ii | Enrichment | COL11A1, COL1A1 | 5.33 |
| 22 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.33 |
| 23 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.85 |
| 24 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.85 |
| 25 | Telecanthus | Enrichment | COL11A1, COL5A2 | 4.85 |
| 26 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 4.85 |
| 27 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.85 |
| 28 | Brittle bone disorder | Enrichment | COL1A1, COL1A2, PPIB | 4.78 |
| 29 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.55 |
| 30 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 4.55 |
| 31 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.55 |
| 32 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 4.33 |
| 33 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.15 |
| 34 | Keratoconus | Enrichment | COL1A1, COL5A2 | 4.15 |
| 35 | Myopathy | Enrichment | COL6A1, COL6A2, COL6A3 | 4.04 |
| 36 | Nevus, epidermal | Enrichment | COL7A1, FGFR3 | 4.01 |
| 37 | Hypertelorism | Enrichment | COL11A1, COL1A1, FGFR2 | 3.70 |
| 38 | Stickler syndrome | Enrichment | COL11A1, COL2A1 | 3.68 |
| 39 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.37 |
| 40 | Myopia | Enrichment | COL11A1, COL2A1 | 3.31 |
| 41 | Beckwith-wiedemann syndrome | Enrichment | COL6A1, COL7A1 | 3.15 |
| 42 | Heart, malformation of | Enrichment | COL11A2, COL2A1 | 3.15 |
| 43 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 3.06 |
| 44 | Colorectal cancer | Enrichment | FGFR2, FGFR3, MET | 3.04 |
| 45 | Hepatoblastoma | Enrichment | COL7A1, FGFR3 | 3.01 |
| 46 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | COL11A2, HGF, MET | 3.01 |
| 47 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.66 |
| 48 | Hypochondroplasia | Enrichment | FGFR3 | 2.66 |
| 49 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.66 |
| 50 | Epidermolysis bullosa dystrophica, pretibial | Enrichment | COL7A1 | 2.66 |
| 51 | Epidermolysis bullosa dystrophica, autosomal dominant | Enrichment | COL7A1 | 2.66 |
| 52 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.66 |
| 53 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.66 |
| 54 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.66 |
| 55 | Epidermolysis bullosa dystrophica, autosomal recessive | Enrichment | COL7A1 | 2.66 |
| 56 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.66 |
| 57 | Muenke syndrome | Enrichment | FGFR3 | 2.66 |
| 58 | Deafness, autosomal recessive 53 | Enrichment | COL11A2 | 2.66 |
| 59 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.66 |
| 60 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.66 |
| 61 | Czech dysplasia | Enrichment | COL2A1 | 2.66 |
| 62 | Nail disorder, nonsyndromic congenital, 8 | Enrichment | COL7A1 | 2.66 |
| 63 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.66 |
| 64 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.66 |
| 65 | Marshall syndrome | Enrichment | COL11A1 | 2.66 |
| 66 | Kniest dysplasia | Enrichment | COL2A1 | 2.66 |
| 67 | Apert syndrome | Enrichment | FGFR2 | 2.66 |
| 68 | Transient bullous dermolysis of the newborn | Enrichment | COL7A1 | 2.66 |
| 69 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.66 |
| 70 | Epidermolysis bullosa with congenital localized absence of skin and deformity of nails | Enrichment | COL7A1 | 2.66 |
| 71 | Fibrochondrogenesis 1 | Enrichment | COL11A1 | 2.66 |
| 72 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.66 |
| 73 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.66 |
| 74 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.66 |
| 75 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.66 |
| 76 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.66 |
| 77 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.66 |
| 78 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.66 |
| 79 | Ullrich congenital muscular dystrophy 1b | Enrichment | COL6A2 | 2.66 |
| 80 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.66 |
| 81 | Osteofibrous dysplasia | Enrichment | MET | 2.66 |
| 82 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.66 |
| 83 | Myosclerosis, autosomal recessive | Enrichment | COL6A2 | 2.66 |
| 84 | Ullrich congenital muscular dystrophy 1c | Enrichment | COL6A3 | 2.66 |
| 85 | Deafness, autosomal dominant 37 | Enrichment | COL11A1 | 2.66 |
| 86 | Deafness, autosomal dominant 13 | Enrichment | COL11A2 | 2.66 |
| 87 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.66 |
| 88 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.66 |
| 89 | Epidermolysis bullosa pruriginosa | Enrichment | COL7A1 | 2.66 |
| 90 | Autism 9 | Enrichment | MET | 2.66 |
| 91 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.66 |
| 92 | Fibrochondrogenesis 2 | Enrichment | COL11A2 | 2.66 |
| 93 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.66 |
| 94 | Dystonia 27 | Enrichment | COL6A3 | 2.66 |
| 95 | Thyroid gland disease | Enrichment | COL7A1 | 2.66 |
| 96 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.66 |
| 97 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.66 |
| 98 | Qualitative or quantitative defects of collagen 6 | Enrichment | COL6A2 | 2.66 |
| 99 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.66 |
| 100 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.66 |
| 101 | Recessive dystrophic epidermolysis bullosa-generalized other | Enrichment | COL7A1 | 2.66 |
| 102 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.66 |
| 103 | Bethlem myopathy 1b | Enrichment | COL6A2 | 2.66 |
| 104 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.66 |
| 105 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.66 |
| 106 | Bethlem myopathy 1c | Enrichment | COL6A3 | 2.66 |
| 107 | Cask-related intellectual disability | Enrichment | CASK | 2.66 |
| 108 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.66 |
| 109 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.66 |
| 110 | Hypochondrogenesis | Enrichment | COL2A1 | 2.66 |
| 111 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.66 |
| 112 | Pneumothorax | Enrichment | COL5A1 | 2.66 |
| 113 | Localized dystrophic epidermolysis bullosa, acral form | Enrichment | COL7A1 | 2.66 |
| 114 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.66 |
| 115 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | Enrichment | COL11A1 | 2.66 |
| 116 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.66 |
| 117 | Cystic lymphangioma | Enrichment | COL11A2 | 2.66 |
| 118 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.66 |
| 119 | Recessive dystrophic epidermolysis bullosa inversa | Enrichment | COL7A1 | 2.66 |
| 120 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.66 |
| 121 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.66 |
| 122 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.66 |
| 123 | Generalized dominant dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.66 |
| 124 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.35 |
| 125 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.35 |
| 126 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.35 |
| 127 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.35 |
| 128 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1 | 2.35 |
| 129 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1 | 2.35 |
| 130 | Osteogenesis imperfecta, type ix | Enrichment | PPIB | 2.35 |
| 131 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.35 |
| 132 | Fg syndrome 4 | Enrichment | CASK | 2.35 |
| 133 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.35 |
| 134 | Cervical cancer | Enrichment | FGFR3 | 2.35 |
| 135 | Aural atresia, congenital | Enrichment | FGFR2 | 2.35 |
| 136 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.35 |
| 137 | Keratosis, seborrheic | Enrichment | FGFR3 | 2.35 |
| 138 | Pfeiffer syndrome | Enrichment | FGFR2 | 2.35 |
| 139 | Jackson-weiss syndrome | Enrichment | FGFR2 | 2.35 |
| 140 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.35 |
| 141 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.35 |
| 142 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.35 |
| 143 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.35 |
| 144 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.35 |
| 145 | Childhood hepatocellular carcinoma | Enrichment | MET | 2.35 |
| 146 | Aortic dissection | Enrichment | COL3A1 | 2.35 |
| 147 | Split hand-foot malformation | Enrichment | FGFR2 | 2.35 |
| 148 | Syndromic x-linked intellectual disability | Enrichment | CASK | 2.35 |
| 149 | Papillary renal cell carcinoma | Enrichment | MET | 2.35 |
| 150 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.35 |
| 151 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.35 |
| 152 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.35 |
| 153 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.35 |
| 154 | Cervix carcinoma | Enrichment | FGFR3 | 2.35 |
| 155 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.35 |
| 156 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.35 |
| 157 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.35 |
| 158 | Epidermolysis bullosa dystrophica | Enrichment | COL7A1 | 2.35 |
| 159 | Sensorineural hearing loss | Enrichment | COL11A2, HGF | 2.30 |
| 160 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | COL11A1, COL11A2 | 2.23 |
| 161 | Achondroplasia | Enrichment | FGFR3 | 2.18 |
| 162 | Mccune-albright syndrome | Enrichment | COL2A1 | 2.18 |
| 163 | Larsen syndrome | Enrichment | FGFR3 | 2.18 |
| 164 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 2.18 |
| 165 | Megalocornea | Enrichment | COL11A1 | 2.18 |
| 166 | Nail disorder, nonsyndromic congenital, 4 | Enrichment | COL7A1 | 2.18 |
| 167 | Hypophosphatasia, infantile | Enrichment | COL11A2 | 2.18 |
| 168 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | CASK | 2.18 |
| 169 | Caffey disease | Enrichment | COL1A1 | 2.18 |
| 170 | Syndromic x-linked intellectual disability najm type | Enrichment | CASK | 2.18 |
| 171 | Cerebellar disease | Enrichment | CASK | 2.18 |
| 172 | Hamartoma | Enrichment | FGFR3 | 2.18 |
| 173 | Testicular germ cell cancer | Enrichment | FGFR3 | 2.18 |
| 174 | Spermatocytoma | Enrichment | FGFR3 | 2.18 |
| 175 | Renal cell carcinoma | Enrichment | MET | 2.18 |
| 176 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 2.18 |
| 177 | Testicular cancer | Enrichment | FGFR3 | 2.18 |
| 178 | Hyperpigmentation of the skin | Enrichment | COL7A1 | 2.18 |
| 179 | Phenylketonuria | Enrichment | COL1A1 | 2.05 |
| 180 | Epidermolytic hyperkeratosis | Enrichment | COL7A1 | 2.05 |
| 181 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 2.05 |
| 182 | Glioma | Enrichment | FGFR2 | 2.05 |
| 183 | Epidermolytic hyperkeratosis 1 | Enrichment | COL7A1 | 1.96 |
| 184 | Retinal detachment | Enrichment | COL2A1 | 1.96 |
| 185 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | CASK | 1.96 |
| 186 | Epidermolysis bullosa | Enrichment | COL7A1 | 1.96 |
| 187 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.96 |
| 188 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.88 |
| 189 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.88 |
| 190 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.88 |
| 191 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.88 |
| 192 | Inguinal hernia | Enrichment | COL5A1 | 1.88 |
| 193 | Pain disorder | Enrichment | COL5A1 | 1.88 |
| 194 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.88 |
| 195 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 1.88 |
| 196 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.88 |
| 197 | Intervertebral disc disease | Enrichment | COL11A1 | 1.81 |
| 198 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.81 |
| 199 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.81 |
| 200 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.76 |
| 201 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.76 |
| 202 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.76 |
| 203 | Orthostatic intolerance | Enrichment | COL5A1 | 1.76 |
| 204 | Ellis-van creveld syndrome | Enrichment | PRKACA | 1.70 |
| 205 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.70 |
| 206 | Marfan syndrome | Enrichment | COL2A1 | 1.66 |
| 207 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.66 |
| 208 | Congenital nervous system abnormality | Enrichment | CASK, FGFR3 | 1.64 |
| 209 | Nervous system disease | Enrichment | CASK, FGFR3 | 1.64 |
| 210 | Ichthyosis | Enrichment | COL7A1 | 1.62 |
| 211 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 1.62 |
| 212 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.58 |
| 213 | Cutis laxa | Enrichment | COL5A1 | 1.58 |
| 214 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.55 |
| 215 | Clubfoot | Enrichment | COL5A1 | 1.55 |
| 216 | Microcephaly | Enrichment | CASK, COL7A1 | 1.52 |
| 217 | Multiple sclerosis | Enrichment | LAMA5 | 1.52 |
| 218 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.52 |
| 219 | Cataract | Enrichment | COL5A1 | 1.52 |
| 220 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.49 |
| 221 | Hydrocephalus | Enrichment | FGFR2 | 1.49 |
| 222 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | CASK | 1.46 |
| 223 | Gliosarcoma | Enrichment | FGFR3 | 1.46 |
| 224 | Isolated congenital microcephaly | Enrichment | CASK | 1.46 |
| 225 | Cleft palate, isolated | Enrichment | COL11A1 | 1.43 |
| 226 | Giant cell glioblastoma | Enrichment | FGFR3 | 1.43 |
| 227 | Human immunodeficiency virus type 1 | Enrichment | CCL5 | 1.41 |
| 228 | Early infantile developmental and epileptic encephalopathy | Enrichment | CASK | 1.41 |
| 229 | Endometrial cancer | Enrichment | FGFR2 | 1.34 |
| 230 | Hepatocellular carcinoma | Enrichment | MET | 1.32 |
| 231 | Skin disease | Enrichment | COL7A1 | 1.32 |
| 232 | Ear malformation | Enrichment | COL11A2 | 1.29 |
| 233 | Scoliosis | Enrichment | COL2A1 | 1.29 |
| 234 | Muscular dystrophy | Enrichment | COL6A2 | 1.29 |
| 235 | Bladder cancer | Enrichment | FGFR3 | 1.21 |
| 236 | Stargardt disease 1 | Enrichment | COL2A1 | 1.19 |
| 237 | Lung cancer | Enrichment | MET | 1.16 |
| 238 | Cystic fibrosis | Enrichment | TGFB1 | 1.16 |
| 239 | Genetic steroid-resistant nephrotic syndrome | Enrichment | LAMA5 | 1.14 |
| 240 | Dystonia | Enrichment | CASK | 1.13 |
| 241 | Non-syndromic x-linked intellectual disability | Enrichment | CASK | 1.12 |
| 242 | Nonsyndromic hearing loss | Enrichment | COL11A2 | 1.05 |
| 243 | Gastric cancer | Enrichment | FGFR2 | 1.04 |
| 244 | Nephrotic syndrome | Enrichment | LAMA5 | 1.04 |
| 245 | Myeloma, multiple | Enrichment | FGFR3 | 0.93 |
| 246 | Hereditary retinal dystrophy | Enrichment | COL11A2, COL2A1 | 0.87 |
| 247 | Fundus dystrophy | Enrichment | COL11A2, COL2A1 | 0.87 |
| 248 | Autism | Enrichment | COL11A1 | 0.83 |
| 249 | Rare genetic deafness | Enrichment | COL11A2 | 0.79 |
| 250 | Ovarian cancer | Enrichment | MET | 0.70 |
| 251 | Inherited cancer-predisposing syndrome | Enrichment | MET | 0.59 |