| 1 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.06 |
| 2 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 6.07 |
| 3 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.07 |
| 4 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.07 |
| 5 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | LAMA3, LAMB3, LAMC2 | 5.77 |
| 6 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 5.77 |
| 7 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | LAMA3, LAMB3, LAMC2 | 5.77 |
| 8 | Junctional epidermolysis bullosa | Enrichment | LAMA3, LAMB3, LAMC2 | 5.15 |
| 9 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1, FN1 | 4.70 |
| 10 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1, FN1 | 4.70 |
| 11 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 4.70 |
| 12 | Metaphyseal anadysplasia | Enrichment | MMP13, MMP9 | 4.70 |
| 13 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 4.70 |
| 14 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 4.70 |
| 15 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2, SPARC | 4.62 |
| 16 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5 | 4.42 |
| 17 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FN1 | 4.40 |
| 18 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 4.23 |
| 19 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14, MMP2 | 4.23 |
| 20 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.23 |
| 21 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1 | 4.10 |
| 22 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 3.93 |
| 23 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 3.93 |
| 24 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 3.93 |
| 25 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 3.93 |
| 26 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 3.93 |
| 27 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 3.71 |
| 28 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 3.71 |
| 29 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2 | 3.53 |
| 30 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 3.53 |
| 31 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.53 |
| 32 | Keratoconus | Enrichment | COL1A1, COL4A1 | 3.53 |
| 33 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2 | 3.53 |
| 34 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 3.39 |
| 35 | Stickler syndrome | Enrichment | COL2A1, VCAN | 3.06 |
| 36 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.06 |
| 37 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 2.97 |
| 38 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 2.82 |
| 39 | Nk-cell enteropathy | Enrichment | ERBB4, IGF1R | 2.82 |
| 40 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 2.76 |
| 41 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 2.70 |
| 42 | Myopia | Enrichment | COL2A1, COL4A4 | 2.70 |
| 43 | Hypertension | Enrichment | COL4A4, COL4A5 | 2.64 |
| 44 | Arteriovenous malformations of the brain | Enrichment | EGFR, TIMP3 | 2.49 |
| 45 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 2.45 |
| 46 | Skin disease | Enrichment | LAMB3, LAMC2 | 2.36 |
| 47 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.35 |
| 48 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.35 |
| 49 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.35 |
| 50 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.35 |
| 51 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.35 |
| 52 | Immunodeficiency 50 | Enrichment | MSN | 2.35 |
| 53 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.35 |
| 54 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.35 |
| 55 | Czech dysplasia | Enrichment | COL2A1 | 2.35 |
| 56 | Kniest dysplasia | Enrichment | COL2A1 | 2.35 |
| 57 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.35 |
| 58 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.35 |
| 59 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.35 |
| 60 | Lissencephaly 5 | Enrichment | LAMB1 | 2.35 |
| 61 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.35 |
| 62 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.35 |
| 63 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.35 |
| 64 | Deafness, x-linked 6 | Enrichment | COL4A6 | 2.35 |
| 65 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.35 |
| 66 | Winchester syndrome | Enrichment | MMP14 | 2.35 |
| 67 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.35 |
| 68 | Porencephaly | Enrichment | COL4A1 | 2.35 |
| 69 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.35 |
| 70 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.35 |
| 71 | Coronary heart disease 6 | Enrichment | MMP3 | 2.35 |
| 72 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.35 |
| 73 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.35 |
| 74 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.35 |
| 75 | Col4a1-related disorders | Enrichment | COL4A1 | 2.35 |
| 76 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.35 |
| 77 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.35 |
| 78 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.35 |
| 79 | Hypochondrogenesis | Enrichment | COL2A1 | 2.35 |
| 80 | X-linked alport syndrome | Enrichment | COL4A5 | 2.35 |
| 81 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.35 |
| 82 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.35 |
| 83 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.35 |
| 84 | Lethal hydranencephaly-diaphragmatic hernia syndrome | Enrichment | PLAT | 2.35 |
| 85 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.35 |
| 86 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 2.32 |
| 87 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.05 |
| 88 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.05 |
| 89 | Amelogenesis imperfecta, type ia | Enrichment | LAMB3 | 2.05 |
| 90 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.05 |
| 91 | Sorsby fundus dystrophy | Enrichment | TIMP3 | 2.05 |
| 92 | Wagner vitreoretinopathy | Enrichment | VCAN | 2.05 |
| 93 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.05 |
| 94 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.05 |
| 95 | Metaphyseal dysplasia, spahr type | Enrichment | MMP13 | 2.05 |
| 96 | Plasminogen deficiency, type i | Enrichment | PLG | 2.05 |
| 97 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 2.05 |
| 98 | Spondyloepimetaphyseal dysplasia, missouri type | Enrichment | MMP13 | 2.05 |
| 99 | Quebec platelet disorder | Enrichment | PLAU | 2.05 |
| 100 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.05 |
| 101 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.05 |
| 102 | Lissencephaly 1 | Enrichment | LAMB1 | 2.05 |
| 103 | Kallikrein, decreased urinary activity of | Enrichment | KLK1 | 2.05 |
| 104 | Specific language impairment 5 | Enrichment | COL4A4 | 2.05 |
| 105 | Silver-russell syndrome 3 | Enrichment | IGF2 | 2.05 |
| 106 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 2.05 |
| 107 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.05 |
| 108 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.05 |
| 109 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 2.05 |
| 110 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 2.05 |
| 111 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.05 |
| 112 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.05 |
| 113 | Aortic dissection | Enrichment | COL3A1 | 2.05 |
| 114 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 2.05 |
| 115 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 2.05 |
| 116 | Glomerulonephritis | Enrichment | COL4A4 | 2.05 |
| 117 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.05 |
| 118 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.05 |
| 119 | Hereditary angioedema | Enrichment | PLG | 2.05 |
| 120 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.05 |
| 121 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.05 |
| 122 | Wagner disease | Enrichment | VCAN | 2.05 |
| 123 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.05 |
| 124 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.05 |
| 125 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 2.05 |
| 126 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 2.05 |
| 127 | Cerebral palsy | Enrichment | COL4A1, COL4A2 | 1.88 |
| 128 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.87 |
| 129 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.87 |
| 130 | Angioedema, hereditary, 1 | Enrichment | PLG | 1.87 |
| 131 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.87 |
| 132 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.87 |
| 133 | Caffey disease | Enrichment | COL1A1 | 1.87 |
| 134 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.87 |
| 135 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.87 |
| 136 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.87 |
| 137 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.87 |
| 138 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.87 |
| 139 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 1.87 |
| 140 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.87 |
| 141 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.87 |
| 142 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.87 |
| 143 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.87 |
| 144 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.87 |
| 145 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.87 |
| 146 | Isolated dandy-walker malformation without hydrocephalus | Enrichment | NID1 | 1.87 |
| 147 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1 | 1.78 |
| 148 | Phenylketonuria | Enrichment | COL1A1 | 1.75 |
| 149 | Schizencephaly | Enrichment | COL4A1 | 1.75 |
| 150 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 1.75 |
| 151 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 1.75 |
| 152 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.75 |
| 153 | Alzheimer disease 2 | Enrichment | PLAU | 1.65 |
| 154 | Retinal detachment | Enrichment | COL2A1 | 1.65 |
| 155 | Epidermolysis bullosa | Enrichment | LAMB3 | 1.65 |
| 156 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.65 |
| 157 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.57 |
| 158 | Cowden syndrome 1 | Enrichment | EGFR | 1.57 |
| 159 | Hemihyperplasia, isolated | Enrichment | IGF2 | 1.57 |
| 160 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.57 |
| 161 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.57 |
| 162 | Silver-russell syndrome 1 | Enrichment | IGF2 | 1.51 |
| 163 | Squamous cell carcinoma, head and neck | Enrichment | EGFR | 1.51 |
| 164 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.51 |
| 165 | Focal epilepsy | Enrichment | NID1 | 1.51 |
| 166 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.45 |
| 167 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.40 |
| 168 | Hereditary retinal dystrophy | Enrichment | COL2A1, LAMA1, TIMP3, VCAN | 1.38 |
| 169 | Fundus dystrophy | Enrichment | COL2A1, LAMA1, TIMP3, VCAN | 1.38 |
| 170 | Marfan syndrome | Enrichment | COL2A1 | 1.36 |
| 171 | Peters-plus syndrome | Enrichment | COL4A1 | 1.36 |
| 172 | Amelogenesis imperfecta, type ie | Enrichment | LAMB3 | 1.36 |
| 173 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.32 |
| 174 | Lip and oral cavity carcinoma | Enrichment | EGFR | 1.28 |
| 175 | Neural tube defects | Enrichment | ITGB1 | 1.24 |
| 176 | Amelogenesis imperfecta | Enrichment | LAMB3 | 1.24 |
| 177 | Multiple sclerosis | Enrichment | LAMB1 | 1.21 |
| 178 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.21 |
| 179 | Lung cancer susceptibility 3 | Enrichment | EGFR | 1.21 |
| 180 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.21 |
| 181 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.21 |
| 182 | Wilms tumor 1 | Enrichment | IGF2 | 1.18 |
| 183 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.18 |
| 184 | Hydrocephalus | Enrichment | NID1 | 1.18 |
| 185 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.18 |
| 186 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.18 |
| 187 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.18 |
| 188 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.18 |
| 189 | Gliosarcoma | Enrichment | EGFR | 1.16 |
| 190 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.13 |
| 191 | Giant cell glioblastoma | Enrichment | EGFR | 1.13 |
| 192 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 1.11 |
| 193 | Heart, malformation of | Enrichment | COL2A1 | 1.11 |
| 194 | Human immunodeficiency virus type 1 | Enrichment | CXCR1 | 1.11 |
| 195 | Polycystic kidney disease | Enrichment | COL4A4 | 1.11 |
| 196 | Scoliosis | Enrichment | COL2A1 | 0.99 |
| 197 | Microcephaly | Enrichment | COL4A1, IGF1R | 0.98 |
| 198 | Bladder cancer | Enrichment | EGFR | 0.91 |
| 199 | Stargardt disease 1 | Enrichment | COL2A1 | 0.90 |
| 200 | Lung cancer | Enrichment | EGFR | 0.87 |
| 201 | Cystic fibrosis | Enrichment | PLG | 0.87 |
| 202 | Connective tissue disease | Enrichment | COL2A1 | 0.87 |
| 203 | Cakut | Enrichment | COL4A1 | 0.85 |
| 204 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3 | 0.85 |
| 205 | Autosomal dominant non-syndromic intellectual disability | Enrichment | ERBB4 | 0.69 |
| 206 | Hypertelorism | Enrichment | COL1A1 | 0.68 |
| 207 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.67 |
| 208 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4 | 0.64 |
| 209 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.64 |
| 210 | Rare genetic deafness | Enrichment | COL4A5 | 0.52 |
| 211 | Colorectal cancer | Enrichment | IGF2 | 0.49 |
| 212 | Ovarian cancer | Enrichment | EGFR | 0.44 |
| 213 | Inherited cancer-predisposing syndrome | Enrichment | EGFR | 0.35 |