| 1 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 9.68 |
| 2 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 9.68 |
| 3 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 | 9.57 |
| 4 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4, LAMA3, LAMB3, LAMC2 | 9.10 |
| 5 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1, DMD, DTNA, LAMA2, SGCB, SGCD | 8.86 |
| 6 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4, LAMA3, LAMB3, LAMC2 | 7.78 |
| 7 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4, LAMA3, LAMB3, LAMC2 | 7.78 |
| 8 | Autosomal recessive limb-girdle muscular dystrophy | Enrichment | SGCA, SGCB, SGCD, SGCG | 6.80 |
| 9 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB2 | 6.75 |
| 10 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.70 |
| 11 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 6.47 |
| 12 | Creatine phosphokinase, elevated serum | Enrichment | DAG1, DMD, LAMA2 | 5.89 |
| 13 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1, DMD, LAMA2 | 5.89 |
| 14 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, LAMB2 | 5.84 |
| 15 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, COL5A1, COL5A2 | 5.80 |
| 16 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.73 |
| 17 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 5.71 |
| 18 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.71 |
| 19 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 5.71 |
| 20 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.42 |
| 21 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.42 |
| 22 | Keratoconus | Enrichment | COL1A1, COL4A1, COL5A2 | 5.41 |
| 23 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1, DMD, LAMA4, SGCD | 4.95 |
| 24 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 4.94 |
| 25 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 4.94 |
| 26 | Muscular dystrophy, duchenne type | Enrichment | DMD, UTRN | 4.69 |
| 27 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.64 |
| 28 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.64 |
| 29 | Muscular dystrophy | Enrichment | DMD, SGCA, SGCD | 4.48 |
| 30 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1, FN1 | 4.46 |
| 31 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1, FN1 | 4.46 |
| 32 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL11A2, COL2A1 | 4.46 |
| 33 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1, PDGFB | 4.46 |
| 34 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL11A2, COL2A1 | 4.46 |
| 35 | Fibrochondrogenesis | Enrichment | COL11A1, COL11A2 | 4.46 |
| 36 | Stickler syndrome, type ii | Enrichment | COL11A1, COL1A1 | 4.46 |
| 37 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 4.46 |
| 38 | Connective tissue disease | Enrichment | ACTA2, COL11A1, COL2A1, COL5A1 | 4.45 |
| 39 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.24 |
| 40 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 4.24 |
| 41 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGB3 | 4.24 |
| 42 | Multiple sclerosis | Enrichment | ITGB4, LAMA5, LAMB1 | 4.16 |
| 43 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 4.10 |
| 44 | Myopia | Enrichment | COL11A1, COL2A1, COL4A4 | 4.07 |
| 45 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 3.99 |
| 46 | Telecanthus | Enrichment | COL11A1, COL5A2 | 3.99 |
| 47 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1, ITGB3 | 3.77 |
| 48 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 3.77 |
| 49 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 3.69 |
| 50 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 3.69 |
| 51 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 3.69 |
| 52 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.68 |
| 53 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, COL11A1, COL11A2, TNC | 3.61 |
| 54 | Skin disease | Enrichment | ITGB4, LAMB3, LAMC2 | 3.55 |
| 55 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.53 |
| 56 | Epidermolysis bullosa | Enrichment | ITGA6, LAMB3 | 3.47 |
| 57 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 3.47 |
| 58 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.47 |
| 59 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN, LAMA5 | 3.43 |
| 60 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.40 |
| 61 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 3.29 |
| 62 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 3.03 |
| 63 | Neuromuscular disease | Enrichment | ACTA1, SGCD | 2.99 |
| 64 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 2.85 |
| 65 | Hyperopia, high | Enrichment | NRXN1 | 2.85 |
| 66 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.85 |
| 67 | Muscular dystrophy, becker type | Enrichment | DMD | 2.85 |
| 68 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.85 |
| 69 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.85 |
| 70 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.85 |
| 71 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 2.85 |
| 72 | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | Enrichment | DTNA | 2.85 |
| 73 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.85 |
| 74 | Cardiomyopathy, dilated, 3b | Enrichment | DMD | 2.85 |
| 75 | Pitt-hopkins-like syndrome 2 | Enrichment | NRXN1 | 2.85 |
| 76 | Left ventricular noncompaction 1 | Enrichment | DTNA | 2.85 |
| 77 | Becker nevus syndrome | Enrichment | ACTB | 2.85 |
| 78 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.85 |
| 79 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 2.85 |
| 80 | Long qt syndrome 12 | Enrichment | SNTA1 | 2.85 |
| 81 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.85 |
| 82 | Chromosome 2p16.3 deletion syndrome | Enrichment | NRXN1 | 2.85 |
| 83 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 2.85 |
| 84 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.85 |
| 85 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.85 |
| 86 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.85 |
| 87 | Nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | Enrichment | NRXN1 | 2.85 |
| 88 | Baraitser-winter syndrome | Enrichment | ACTB | 2.85 |
| 89 | Symptomatic form of muscular dystrophy of duchenne and becker in female carriers | Enrichment | DMD | 2.85 |
| 90 | Zebra body myopathy | Enrichment | ACTA1 | 2.85 |
| 91 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.85 |
| 92 | Duchenne and becker muscular dystrophy | Enrichment | DMD | 2.85 |
| 93 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.85 |
| 94 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.85 |
| 95 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.85 |
| 96 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 2.85 |
| 97 | Qualitative or quantitative defects of dystrophin | Enrichment | DMD | 2.85 |
| 98 | Actg2 visceral myopathy | Enrichment | ACTG2 | 2.85 |
| 99 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.85 |
| 100 | Myopathy | Enrichment | ACTA1, DMD | 2.85 |
| 101 | Stickler syndrome | Enrichment | COL11A1, COL2A1 | 2.82 |
| 102 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.70 |
| 103 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.70 |
| 104 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.70 |
| 105 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.70 |
| 106 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.70 |
| 107 | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | Enrichment | TRAPPC4 | 2.70 |
| 108 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.70 |
| 109 | Cask-related intellectual disability | Enrichment | CASK | 2.70 |
| 110 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.70 |
| 111 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.70 |
| 112 | Pneumothorax | Enrichment | COL5A1 | 2.70 |
| 113 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.70 |
| 114 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 2.59 |
| 115 | Muscular dystrophy, limb-girdle, autosomal recessive 6 | Enrichment | SGCD | 2.58 |
| 116 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.58 |
| 117 | Lissencephaly 5 | Enrichment | LAMB1 | 2.58 |
| 118 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | Enrichment | SGCG | 2.58 |
| 119 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 2.58 |
| 120 | Cardiomyopathy, dilated, 1l | Enrichment | SGCD | 2.58 |
| 121 | Autosomal recessive limb-girdle muscular dystrophy type 2c | Enrichment | SGCG | 2.58 |
| 122 | Cortical malformations, occipital | Enrichment | LAMC3 | 2.58 |
| 123 | Autosomal recessive limb-girdle muscular dystrophy type 2f | Enrichment | SGCD | 2.58 |
| 124 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 2.58 |
| 125 | Occipital pachygyria and polymicrogyria | Enrichment | LAMC3 | 2.58 |
| 126 | Qualitative or quantitative defects of sarcoglycan | Enrichment | SGCA | 2.58 |
| 127 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 2.58 |
| 128 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.55 |
| 129 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.55 |
| 130 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.55 |
| 131 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.55 |
| 132 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.55 |
| 133 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.55 |
| 134 | Schwartz-jampel syndrome, type 1 | Enrichment | HSPG2 | 2.55 |
| 135 | Intestinal obstruction | Enrichment | ACTG2 | 2.55 |
| 136 | Walker-warburg syndrome | Enrichment | COL4A1, DAG1 | 2.53 |
| 137 | Schizophrenia | Enrichment | DMD, NRXN1 | 2.52 |
| 138 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1, DMD | 2.46 |
| 139 | Left ventricular noncompaction | Enrichment | ACTC1, DTNA | 2.41 |
| 140 | Hypertension | Enrichment | COL4A4, COL4A5 | 2.41 |
| 141 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.40 |
| 142 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.40 |
| 143 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.40 |
| 144 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.40 |
| 145 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.40 |
| 146 | Fg syndrome 4 | Enrichment | CASK | 2.40 |
| 147 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.40 |
| 148 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.40 |
| 149 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.40 |
| 150 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.40 |
| 151 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.40 |
| 152 | Aortic dissection | Enrichment | COL3A1 | 2.40 |
| 153 | Syndromic x-linked intellectual disability | Enrichment | CASK | 2.40 |
| 154 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.40 |
| 155 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | Enrichment | TRAPPC4 | 2.40 |
| 156 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.40 |
| 157 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.40 |
| 158 | Thrombocytopenia | Enrichment | ACTN1, ITGB3 | 2.39 |
| 159 | Dyssegmental dysplasia, silverman-handmaker type | Enrichment | HSPG2 | 2.38 |
| 160 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 2.38 |
| 161 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 2.38 |
| 162 | Autism | Enrichment | DMD, NRXN1 | 2.35 |
| 163 | Heart, malformation of | Enrichment | COL11A2, COL2A1 | 2.31 |
| 164 | Amelogenesis imperfecta, type ia | Enrichment | LAMB3 | 2.28 |
| 165 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.28 |
| 166 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 2.28 |
| 167 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 2.28 |
| 168 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | Enrichment | SGCB | 2.28 |
| 169 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 2.28 |
| 170 | Lissencephaly 1 | Enrichment | LAMB1 | 2.28 |
| 171 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | SGCA | 2.28 |
| 172 | Pierson syndrome | Enrichment | LAMB2 | 2.28 |
| 173 | Atrial septal defect 5 | Enrichment | ACTC1 | 2.28 |
| 174 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 2.28 |
| 175 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 2.28 |
| 176 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.28 |
| 177 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 2.28 |
| 178 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | SGCA | 2.28 |
| 179 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.28 |
| 180 | Qualitative or quantitative defects of beta-sarcoglycan | Enrichment | SGCB | 2.28 |
| 181 | Glycoproteinosis | Enrichment | SGCB | 2.28 |
| 182 | Sgce myoclonus-dystonia | Enrichment | SGCE | 2.28 |
| 183 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1 | 2.26 |
| 184 | Nemaline myopathy 2 | Enrichment | ACTA1 | 2.25 |
| 185 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 2.25 |
| 186 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 2.25 |
| 187 | Aminoacylase 1 deficiency | Enrichment | ACTB | 2.25 |
| 188 | Atrial fibrillation | Enrichment | SNTA1 | 2.25 |
| 189 | Idiopathic achalasia | Enrichment | NOS1 | 2.25 |
| 190 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 2.25 |
| 191 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 2.25 |
| 192 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.23 |
| 193 | Carpal tunnel syndrome 1 | Enrichment | TTR | 2.23 |
| 194 | Hyperthyroxinemia, dystransthyretinemic | Enrichment | TTR | 2.23 |
| 195 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.23 |
| 196 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.23 |
| 197 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.23 |
| 198 | Deafness, autosomal recessive 53 | Enrichment | COL11A2 | 2.23 |
| 199 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.23 |
| 200 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.23 |
| 201 | Czech dysplasia | Enrichment | COL2A1 | 2.23 |
| 202 | Marshall syndrome | Enrichment | COL11A1 | 2.23 |
| 203 | Kniest dysplasia | Enrichment | COL2A1 | 2.23 |
| 204 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.23 |
| 205 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.23 |
| 206 | Amyloidosis, hereditary systemic 1 | Enrichment | TTR | 2.23 |
| 207 | Fibrochondrogenesis 1 | Enrichment | COL11A1 | 2.23 |
| 208 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.23 |
| 209 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.23 |
| 210 | Deafness, x-linked 6 | Enrichment | COL4A6 | 2.23 |
| 211 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.23 |
| 212 | Porencephaly | Enrichment | COL4A1 | 2.23 |
| 213 | Spondylometaepiphyseal dysplasia, short limb-hand type | Enrichment | DDR2 | 2.23 |
| 214 | Deafness, autosomal dominant 37 | Enrichment | COL11A1 | 2.23 |
| 215 | Deafness, autosomal dominant 13 | Enrichment | COL11A2 | 2.23 |
| 216 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.23 |
| 217 | Fibrochondrogenesis 2 | Enrichment | COL11A2 | 2.23 |
| 218 | Warburg-cinotti syndrome | Enrichment | DDR2 | 2.23 |
| 219 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.23 |
| 220 | Amyloidosis | Enrichment | TTR | 2.23 |
| 221 | Col4a1-related disorders | Enrichment | COL4A1 | 2.23 |
| 222 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.23 |
| 223 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.23 |
| 224 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.23 |
| 225 | Hypochondrogenesis | Enrichment | COL2A1 | 2.23 |
| 226 | X-linked alport syndrome | Enrichment | COL4A5 | 2.23 |
| 227 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | Enrichment | COL11A1 | 2.23 |
| 228 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.23 |
| 229 | Cystic lymphangioma | Enrichment | COL11A2 | 2.23 |
| 230 | Hereditary amyloidosis | Enrichment | TTR | 2.23 |
| 231 | Attrv30m amyloidosis | Enrichment | TTR | 2.23 |
| 232 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.23 |
| 233 | Attrv122i amyloidosis | Enrichment | TTR | 2.23 |
| 234 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.22 |
| 235 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 2.22 |
| 236 | Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia | Enrichment | CASK | 2.22 |
| 237 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.22 |
| 238 | Caffey disease | Enrichment | COL1A1 | 2.22 |
| 239 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 2.22 |
| 240 | Syndromic x-linked intellectual disability najm type | Enrichment | CASK | 2.22 |
| 241 | Cerebellar disease | Enrichment | CASK | 2.22 |
| 242 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.22 |
| 243 | Microcephaly | Enrichment | ACTB, ACTG1, CASK, COL4A1 | 2.22 |
| 244 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 2.22 |
| 245 | Visceral myopathy 1 | Enrichment | ACTG2 | 2.16 |
| 246 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 2.16 |
| 247 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 2.16 |
| 248 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 2.16 |
| 249 | Coloboma of choroid and retina | Enrichment | ACTG1 | 2.16 |
| 250 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 2.16 |
| 251 | Phenylketonuria | Enrichment | COL1A1 | 2.10 |
| 252 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 2.10 |
| 253 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 2.10 |
| 254 | Moyamoya disease 1 | Enrichment | ACTA2 | 2.08 |
| 255 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 2.08 |
| 256 | Typical nemaline myopathy | Enrichment | ACTA1 | 2.08 |
| 257 | Meniere disease | Enrichment | DTNA | 2.01 |
| 258 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 2.01 |
| 259 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 2.00 |
| 260 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | CASK | 2.00 |
| 261 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 2.00 |
| 262 | Aplasia cutis congenita | Enrichment | ITGB4 | 2.00 |
| 263 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 2.00 |
| 264 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.95 |
| 265 | Rare genetic deafness | Enrichment | ACTG1, COL11A2, COL4A5 | 1.95 |
| 266 | Metaphyseal chondrodysplasia, schmid type | Enrichment | COL10A1 | 1.93 |
| 267 | Legg-calve-perthes disease | Enrichment | COL2A1 | 1.93 |
| 268 | Mononeuropathy of the median nerve, mild | Enrichment | TTR | 1.93 |
| 269 | Specific language impairment 5 | Enrichment | COL4A4 | 1.93 |
| 270 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 1.93 |
| 271 | Glomerulonephritis | Enrichment | COL4A4 | 1.93 |
| 272 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 1.93 |
| 273 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.92 |
| 274 | Inguinal hernia | Enrichment | COL5A1 | 1.92 |
| 275 | Pain disorder | Enrichment | COL5A1 | 1.92 |
| 276 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.92 |
| 277 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.86 |
| 278 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.86 |
| 279 | Cat eye syndrome | Enrichment | ACTG1 | 1.86 |
| 280 | Nemaline myopathy | Enrichment | ACTA1 | 1.86 |
| 281 | Pectus excavatum | Enrichment | DMD | 1.82 |
| 282 | Atrial heart septal defect | Enrichment | DMD | 1.82 |
| 283 | Interatrial communication | Enrichment | DMD | 1.82 |
| 284 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.80 |
| 285 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.80 |
| 286 | Orthostatic intolerance | Enrichment | COL5A1 | 1.80 |
| 287 | Dystonia 11, myoclonic | Enrichment | SGCE | 1.80 |
| 288 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.78 |
| 289 | Cakut | Enrichment | ACTG1, COL4A1 | 1.77 |
| 290 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3, LAMA5 | 1.77 |
| 291 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.75 |
| 292 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.75 |
| 293 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.75 |
| 294 | Megalocornea | Enrichment | COL11A1 | 1.75 |
| 295 | Hypophosphatasia, infantile | Enrichment | COL11A2 | 1.75 |
| 296 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.75 |
| 297 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.75 |
| 298 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.75 |
| 299 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.75 |
| 300 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.75 |
| 301 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.75 |
| 302 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.75 |
| 303 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.75 |
| 304 | Chromosome 1p36 deletion syndrome | Enrichment | HSPG2 | 1.74 |
| 305 | Congenital hydrocephalus | Enrichment | SGCD | 1.73 |
| 306 | Non-syndromic x-linked intellectual disability | Enrichment | CASK, DMD | 1.72 |
| 307 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.71 |
| 308 | Congenital myasthenic syndrome | Enrichment | AGRN | 1.71 |
| 309 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.68 |
| 310 | Cerebral palsy | Enrichment | COL4A1, COL4A2 | 1.66 |
| 311 | Schizencephaly | Enrichment | COL4A1 | 1.63 |
| 312 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 1.63 |
| 313 | Cutis laxa | Enrichment | COL5A1 | 1.63 |
| 314 | Charcot-marie-tooth disease | Enrichment | LAMA2, TTR | 1.61 |
| 315 | Beckwith-wiedemann syndrome | Enrichment | DMD | 1.60 |
| 316 | Nonsyndromic hearing loss | Enrichment | ACTG1, COL11A2 | 1.60 |
| 317 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.59 |
| 318 | Neural tube defects | Enrichment | ITGB1 | 1.59 |
| 319 | Clubfoot | Enrichment | COL5A1 | 1.59 |
| 320 | Amelogenesis imperfecta, type ie | Enrichment | LAMB3 | 1.58 |
| 321 | Congenital myopathy | Enrichment | ACTA1 | 1.58 |
| 322 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.56 |
| 323 | Cataract | Enrichment | COL5A1 | 1.56 |
| 324 | Movement disease | Enrichment | SGCE | 1.54 |
| 325 | Lissencephaly | Enrichment | ACTG1 | 1.54 |
| 326 | Centronuclear myopathy | Enrichment | ACTA1 | 1.54 |
| 327 | Retinal detachment | Enrichment | COL2A1 | 1.54 |
| 328 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | CASK | 1.50 |
| 329 | Isolated congenital microcephaly | Enrichment | CASK | 1.50 |
| 330 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | SGCB | 1.50 |
| 331 | Amelogenesis imperfecta | Enrichment | LAMB3 | 1.47 |
| 332 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.46 |
| 333 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.46 |
| 334 | Body mass index quantitative trait locus 11 | Enrichment | NRXN1, SDC3 | 1.46 |
| 335 | Early infantile developmental and epileptic encephalopathy | Enrichment | CASK | 1.45 |
| 336 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 1.45 |
| 337 | Hypertelorism | Enrichment | COL11A1, COL1A1 | 1.42 |
| 338 | Intervertebral disc disease | Enrichment | COL11A1 | 1.39 |
| 339 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.39 |
| 340 | Long qt syndrome 1 | Enrichment | SNTA1 | 1.38 |
| 341 | Long qt syndrome | Enrichment | SNTA1 | 1.37 |
| 342 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 1.37 |
| 343 | Myocardial infarction | Enrichment | ITGB3 | 1.37 |
| 344 | Lung cancer | Enrichment | ACTA2 | 1.36 |
| 345 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.34 |
| 346 | Patent foramen ovale | Enrichment | ACTC1 | 1.33 |
| 347 | Fanconi anemia, complementation group a | Enrichment | DMD | 1.32 |
| 348 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.31 |
| 349 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 1.30 |
| 350 | Severe covid-19 | Enrichment | ITGAV | 1.25 |
| 351 | Marfan syndrome | Enrichment | COL2A1 | 1.24 |
| 352 | Peters-plus syndrome | Enrichment | COL4A1 | 1.24 |
| 353 | Cystic fibrosis | Enrichment | TGFB1 | 1.21 |
| 354 | Meningioma, familial | Enrichment | PDGFB | 1.20 |
| 355 | Dystonia | Enrichment | CASK | 1.17 |
| 356 | Meningioma | Enrichment | PDGFB | 1.16 |
| 357 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.10 |
| 358 | Corpus callosum, agenesis of | Enrichment | COL4A1 | 1.07 |
| 359 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.07 |
| 360 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.07 |
| 361 | Isolated corpus callosum agenesis | Enrichment | COL4A1 | 1.07 |
| 362 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1 | 1.07 |
| 363 | Cleft palate, isolated | Enrichment | COL11A1 | 1.02 |
| 364 | Polycystic kidney disease | Enrichment | COL4A4 | 1.00 |
| 365 | Hypertrophic cardiomyopathy | Enrichment | ACTC1 | 0.97 |
| 366 | Primary ovarian insufficiency | Enrichment | THBS1 | 0.95 |
| 367 | Colorectal cancer | Enrichment | DMD | 0.94 |
| 368 | Ear malformation | Enrichment | COL11A2 | 0.88 |
| 369 | Scoliosis | Enrichment | COL2A1 | 0.88 |
| 370 | Autism spectrum disorder | Enrichment | NRXN1 | 0.85 |
| 371 | Stargardt disease 1 | Enrichment | COL2A1 | 0.79 |
| 372 | Congenital nervous system abnormality | Enrichment | CASK | 0.72 |
| 373 | Nervous system disease | Enrichment | CASK | 0.72 |
| 374 | Complex neurodevelopmental disorder | Enrichment | TRAPPC4 | 0.66 |
| 375 | Hereditary retinal dystrophy | Enrichment | COL11A2, COL2A1, LAMA1 | 0.61 |
| 376 | Fundus dystrophy | Enrichment | COL11A2, COL2A1, LAMA1 | 0.61 |
| 377 | Sensorineural hearing loss | Enrichment | COL11A2 | 0.61 |
| 378 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | COL11A2 | 0.39 |