| 1 | Bacterial infectious disease | Direct | | |
| 2 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4, LAMA3, LAMB3, LAMC2 | 10.68 |
| 3 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4, LAMA3, LAMB3, LAMC2 | 10.36 |
| 4 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4, LAMA3, LAMB3, LAMC2 | 10.36 |
| 5 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 | 10.17 |
| 6 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 10.05 |
| 7 | Classic ehlers-danlos syndrome | Enrichment | COL1A1, COL1A2, COL5A1, COL5A2 | 10.05 |
| 8 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, ITGA3, LAMA5, LAMB2 | 9.39 |
| 9 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 8.56 |
| 10 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 8.10 |
| 11 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, LAMB2 | 7.58 |
| 12 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 7.56 |
| 13 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.56 |
| 14 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.56 |
| 15 | Keratoconus | Enrichment | COL1A1, COL4A1, COL5A2 | 7.26 |
| 16 | Epidermolysis bullosa | Enrichment | COL7A1, ITGA6, LAMB3 | 7.01 |
| 17 | Skin disease | Enrichment | COL7A1, ITGB4, LAMB3, LAMC2 | 6.86 |
| 18 | Multiple sclerosis | Enrichment | ITGB4, LAMA5, LAMB1 | 6.84 |
| 19 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, COL5A1, COL5A2 | 6.35 |
| 20 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1, FN1 | 5.69 |
| 21 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1, FN1 | 5.69 |
| 22 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1, COL1A2 | 5.69 |
| 23 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1, COL1A2 | 5.69 |
| 24 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 5.69 |
| 25 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 5.21 |
| 26 | Ehlers-danlos syndrome, classic type, 2 | Enrichment | COL5A1, COL5A2 | 5.21 |
| 27 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1, COL1A2 | 5.21 |
| 28 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, CTNNA3, JUP | 5.07 |
| 29 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.07 |
| 30 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 5.05 |
| 31 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1, COL1A2 | 4.91 |
| 32 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 4.91 |
| 33 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 4.91 |
| 34 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 4.91 |
| 35 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1, COL1A2 | 4.91 |
| 36 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2, CTNNA3, JUP | 4.89 |
| 37 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 4.69 |
| 38 | Osteogenesis imperfecta, type i | Enrichment | COL1A1, COL1A2 | 4.51 |
| 39 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 4.51 |
| 40 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1, COL1A2 | 4.36 |
| 41 | Primary bone dysplasia | Enrichment | COL1A1, COL1A2 | 4.03 |
| 42 | Osteochondrodysplasia | Enrichment | COL1A1, COL1A2 | 3.95 |
| 43 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGB3 | 3.90 |
| 44 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, COL1A2 | 3.80 |
| 45 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 3.80 |
| 46 | Osteoporosis | Enrichment | COL1A1, COL1A2 | 3.73 |
| 47 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1, COL1A2 | 3.67 |
| 48 | Myopia | Enrichment | COL2A1, COL4A4 | 3.67 |
| 49 | Hypertension | Enrichment | COL4A4, COL4A5 | 3.61 |
| 50 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1, ITGB3 | 3.42 |
| 51 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 3.41 |
| 52 | Microcephaly | Enrichment | ACTB, ACTG1, COL4A1, CTNNB1 | 3.34 |
| 53 | Brittle bone disorder | Enrichment | COL1A1, COL1A2 | 3.29 |
| 54 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | CTNNA3, JUP | 3.26 |
| 55 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | CTNNA3, JUP | 3.26 |
| 56 | Lissencephaly 5 | Enrichment | LAMB1 | 3.09 |
| 57 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 3.09 |
| 58 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 3.09 |
| 59 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 3.09 |
| 60 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 3.09 |
| 61 | Corpus callosum, agenesis of | Enrichment | CDH2, COL4A1 | 3.06 |
| 62 | Isolated corpus callosum agenesis | Enrichment | CDH2, COL4A1 | 3.06 |
| 63 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2, COL4A1 | 3.06 |
| 64 | Connective tissue disease | Enrichment | COL2A1, COL5A1 | 3.00 |
| 65 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.83 |
| 66 | Epidermolysis bullosa dystrophica, pretibial | Enrichment | COL7A1 | 2.83 |
| 67 | Epidermolysis bullosa dystrophica, autosomal dominant | Enrichment | COL7A1 | 2.83 |
| 68 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.83 |
| 69 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.83 |
| 70 | Epidermolysis bullosa dystrophica, autosomal recessive | Enrichment | COL7A1 | 2.83 |
| 71 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.83 |
| 72 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.83 |
| 73 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.83 |
| 74 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.83 |
| 75 | Czech dysplasia | Enrichment | COL2A1 | 2.83 |
| 76 | Nail disorder, nonsyndromic congenital, 8 | Enrichment | COL7A1 | 2.83 |
| 77 | Kniest dysplasia | Enrichment | COL2A1 | 2.83 |
| 78 | Transient bullous dermolysis of the newborn | Enrichment | COL7A1 | 2.83 |
| 79 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.83 |
| 80 | Epidermolysis bullosa with congenital localized absence of skin and deformity of nails | Enrichment | COL7A1 | 2.83 |
| 81 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.83 |
| 82 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.83 |
| 83 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.83 |
| 84 | Deafness, x-linked 6 | Enrichment | COL4A6 | 2.83 |
| 85 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.83 |
| 86 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.83 |
| 87 | Porencephaly | Enrichment | COL4A1 | 2.83 |
| 88 | Epidermolysis bullosa pruriginosa | Enrichment | COL7A1 | 2.83 |
| 89 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.83 |
| 90 | Thyroid gland disease | Enrichment | COL7A1 | 2.83 |
| 91 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.83 |
| 92 | Recessive dystrophic epidermolysis bullosa-generalized other | Enrichment | COL7A1 | 2.83 |
| 93 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.83 |
| 94 | Col4a1-related disorders | Enrichment | COL4A1 | 2.83 |
| 95 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.83 |
| 96 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.83 |
| 97 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.83 |
| 98 | Hypochondrogenesis | Enrichment | COL2A1 | 2.83 |
| 99 | X-linked alport syndrome | Enrichment | COL4A5 | 2.83 |
| 100 | Pneumothorax | Enrichment | COL5A1 | 2.83 |
| 101 | Localized dystrophic epidermolysis bullosa, acral form | Enrichment | COL7A1 | 2.83 |
| 102 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.83 |
| 103 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.83 |
| 104 | Recessive dystrophic epidermolysis bullosa inversa | Enrichment | COL7A1 | 2.83 |
| 105 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.83 |
| 106 | Generalized dominant dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.83 |
| 107 | Cerebral palsy | Enrichment | COL4A1, COL4A2 | 2.83 |
| 108 | Amelogenesis imperfecta, type ia | Enrichment | LAMB3 | 2.79 |
| 109 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 2.79 |
| 110 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 2.79 |
| 111 | Lissencephaly 1 | Enrichment | LAMB1 | 2.79 |
| 112 | Pierson syndrome | Enrichment | LAMB2 | 2.79 |
| 113 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 2.79 |
| 114 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 2.79 |
| 115 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 2.79 |
| 116 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.79 |
| 117 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 2.79 |
| 118 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 2.79 |
| 119 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.79 |
| 120 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.66 |
| 121 | Cortical malformations, occipital | Enrichment | LAMC3 | 2.66 |
| 122 | Occipital pachygyria and polymicrogyria | Enrichment | LAMC3 | 2.66 |
| 123 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.66 |
| 124 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.66 |
| 125 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 2.61 |
| 126 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 2.61 |
| 127 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 2.61 |
| 128 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 2.61 |
| 129 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3, LAMA5 | 2.60 |
| 130 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 2.53 |
| 131 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 2.53 |
| 132 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 2.53 |
| 133 | Bruck syndrome 1 | Enrichment | COL1A2 | 2.53 |
| 134 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL2A1 | 2.53 |
| 135 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 2.53 |
| 136 | Legg-calve-perthes disease | Enrichment | COL2A1 | 2.53 |
| 137 | Specific language impairment 5 | Enrichment | COL4A4 | 2.53 |
| 138 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL2A1 | 2.53 |
| 139 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 2.53 |
| 140 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 2.53 |
| 141 | Fibromuscular dysplasia, multifocal | Enrichment | COL5A1 | 2.53 |
| 142 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 2.53 |
| 143 | Aortic dissection | Enrichment | COL3A1 | 2.53 |
| 144 | Recessive dystrophic epidermolysis bullosa | Enrichment | COL7A1 | 2.53 |
| 145 | Glomerulonephritis | Enrichment | COL4A4 | 2.53 |
| 146 | Stickler syndrome, type ii | Enrichment | COL1A1 | 2.53 |
| 147 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 2.53 |
| 148 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 2.53 |
| 149 | Epidermolysis bullosa dystrophica | Enrichment | COL7A1 | 2.53 |
| 150 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.53 |
| 151 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.53 |
| 152 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.53 |
| 153 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.53 |
| 154 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.53 |
| 155 | Arrhythmogenic right ventricular dysplasia, familial, 13 | Enrichment | CTNNA3 | 2.53 |
| 156 | Naxos disease | Enrichment | JUP | 2.53 |
| 157 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 2.53 |
| 158 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.53 |
| 159 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.53 |
| 160 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.53 |
| 161 | Actn3 deficiency | Enrichment | ACTN3 | 2.53 |
| 162 | Becker nevus syndrome | Enrichment | ACTB | 2.53 |
| 163 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.53 |
| 164 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.53 |
| 165 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.53 |
| 166 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.53 |
| 167 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.53 |
| 168 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.53 |
| 169 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.53 |
| 170 | Baraitser-winter syndrome | Enrichment | ACTB | 2.53 |
| 171 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.53 |
| 172 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.53 |
| 173 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.53 |
| 174 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 2.49 |
| 175 | Bladder cancer | Enrichment | CTNNA3, CTNNB1 | 2.49 |
| 176 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 2.39 |
| 177 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 2.39 |
| 178 | Aplasia cutis congenita | Enrichment | ITGB4 | 2.39 |
| 179 | Mccune-albright syndrome | Enrichment | COL2A1 | 2.35 |
| 180 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 2.35 |
| 181 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 2.35 |
| 182 | Nail disorder, nonsyndromic congenital, 4 | Enrichment | COL7A1 | 2.35 |
| 183 | Telecanthus | Enrichment | COL5A2 | 2.35 |
| 184 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.35 |
| 185 | Caffey disease | Enrichment | COL1A1 | 2.35 |
| 186 | Brain small vessel disease 2 | Enrichment | COL4A2 | 2.35 |
| 187 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 2.35 |
| 188 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 2.35 |
| 189 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 2.35 |
| 190 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 2.35 |
| 191 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 2.35 |
| 192 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 2.35 |
| 193 | Hyperpigmentation of the skin | Enrichment | COL7A1 | 2.35 |
| 194 | Schwartz-jampel syndrome, type 1 | Enrichment | HSPG2 | 2.35 |
| 195 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.35 |
| 196 | Glaucoma, primary closed-angle | Enrichment | COL18A1 | 2.35 |
| 197 | Cakut | Enrichment | ACTG1, COL4A1 | 2.35 |
| 198 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 2.25 |
| 199 | Phenylketonuria | Enrichment | COL1A1 | 2.23 |
| 200 | Schizencephaly | Enrichment | COL4A1 | 2.23 |
| 201 | Epidermolytic hyperkeratosis | Enrichment | COL7A1 | 2.23 |
| 202 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 2.23 |
| 203 | Blepharocheilodontic syndrome 1 | Enrichment | CTNND1 | 2.23 |
| 204 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.23 |
| 205 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.23 |
| 206 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.23 |
| 207 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.23 |
| 208 | Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | Enrichment | ESAM | 2.23 |
| 209 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.23 |
| 210 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.23 |
| 211 | Teratoma | Enrichment | CTNNB1 | 2.23 |
| 212 | Congenital muscular dystrophy | Enrichment | LAMA2 | 2.19 |
| 213 | Dyssegmental dysplasia, silverman-handmaker type | Enrichment | HSPG2 | 2.18 |
| 214 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | Enrichment | ITGA7 | 2.18 |
| 215 | Isolated dandy-walker malformation without hydrocephalus | Enrichment | NID1 | 2.18 |
| 216 | Epidermolytic hyperkeratosis 1 | Enrichment | COL7A1 | 2.13 |
| 217 | Retinal detachment | Enrichment | COL2A1 | 2.13 |
| 218 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 2.13 |
| 219 | Amelogenesis imperfecta, type ie | Enrichment | LAMB3 | 2.09 |
| 220 | Thrombocytopenia | Enrichment | ACTN1, ITGB3 | 2.06 |
| 221 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 2.05 |
| 222 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 2.05 |
| 223 | Inguinal hernia | Enrichment | COL5A1 | 2.05 |
| 224 | Pain disorder | Enrichment | COL5A1 | 2.05 |
| 225 | Knobloch syndrome | Enrichment | COL18A1 | 2.05 |
| 226 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.05 |
| 227 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.05 |
| 228 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 2.05 |
| 229 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 2.05 |
| 230 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.05 |
| 231 | Anus, imperforate | Enrichment | CTNNB1 | 2.05 |
| 232 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.05 |
| 233 | Desmoid tumor | Enrichment | CTNNB1 | 2.05 |
| 234 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 2.05 |
| 235 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.05 |
| 236 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.05 |
| 237 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 2.05 |
| 238 | Nevus, epidermal | Enrichment | COL7A1 | 1.99 |
| 239 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.99 |
| 240 | Amelogenesis imperfecta | Enrichment | LAMB3 | 1.98 |
| 241 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2, LAMA4 | 1.97 |
| 242 | Knobloch syndrome 1 | Enrichment | COL18A1 | 1.96 |
| 243 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1, CTNNA2 | 1.94 |
| 244 | Gastroesophageal reflux | Enrichment | COL5A1 | 1.93 |
| 245 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.93 |
| 246 | Orthostatic intolerance | Enrichment | COL5A1 | 1.93 |
| 247 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1 | 1.93 |
| 248 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.93 |
| 249 | Pilomatrixoma | Enrichment | CTNNB1 | 1.93 |
| 250 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.93 |
| 251 | Alazami syndrome | Enrichment | CTNNB1 | 1.93 |
| 252 | Craniopharyngioma | Enrichment | CTNNB1 | 1.93 |
| 253 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.93 |
| 254 | Creatine phosphokinase, elevated serum | Enrichment | LAMA2 | 1.89 |
| 255 | Isolated elevated serum creatine phosphokinase levels | Enrichment | LAMA2 | 1.89 |
| 256 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1 | 1.88 |
| 257 | Marfan syndrome | Enrichment | COL2A1 | 1.83 |
| 258 | Peters-plus syndrome | Enrichment | COL4A1 | 1.83 |
| 259 | Stickler syndrome | Enrichment | COL2A1 | 1.83 |
| 260 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.83 |
| 261 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.83 |
| 262 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.83 |
| 263 | Focal epilepsy | Enrichment | NID1 | 1.81 |
| 264 | Ichthyosis | Enrichment | COL7A1 | 1.79 |
| 265 | Cutis laxa | Enrichment | COL5A1 | 1.76 |
| 266 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.76 |
| 267 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.76 |
| 268 | Cleft lip with or without cleft palate | Enrichment | CTNND1 | 1.76 |
| 269 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | COL5A1 | 1.72 |
| 270 | Neural tube defects | Enrichment | ITGB1 | 1.72 |
| 271 | Clubfoot | Enrichment | COL5A1 | 1.72 |
| 272 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1 | 1.69 |
| 273 | Walker-warburg syndrome | Enrichment | COL4A1 | 1.69 |
| 274 | Cataract | Enrichment | COL5A1 | 1.69 |
| 275 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.69 |
| 276 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.69 |
| 277 | Gallbladder cancer | Enrichment | CTNNB1 | 1.69 |
| 278 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.66 |
| 279 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 1.66 |
| 280 | Rare genetic deafness | Enrichment | ACTG1, COL4A5 | 1.65 |
| 281 | Dilated cardiomyopathy | Enrichment | ACTN2, JUP | 1.63 |
| 282 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.63 |
| 283 | Beckwith-wiedemann syndrome | Enrichment | COL7A1 | 1.58 |
| 284 | Heart, malformation of | Enrichment | COL2A1 | 1.58 |
| 285 | Polycystic kidney disease | Enrichment | COL4A4 | 1.58 |
| 286 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.58 |
| 287 | Colorectal cancer | Enrichment | CTNNA1, CTNNB1 | 1.57 |
| 288 | Chromosome 1p36 deletion syndrome | Enrichment | HSPG2 | 1.55 |
| 289 | Cat eye syndrome | Enrichment | ACTG1 | 1.54 |
| 290 | Hepatoblastoma | Enrichment | COL7A1 | 1.52 |
| 291 | Congenital myopathy 4a, autosomal dominant | Enrichment | ITGA7 | 1.49 |
| 292 | Hydrocephalus | Enrichment | NID1 | 1.49 |
| 293 | Charcot-marie-tooth disease | Enrichment | LAMA2 | 1.48 |
| 294 | Scoliosis | Enrichment | COL2A1 | 1.46 |
| 295 | Medulloblastoma | Enrichment | CTNNB1 | 1.39 |
| 296 | Stargardt disease 1 | Enrichment | COL2A1 | 1.36 |
| 297 | Cystic fibrosis | Enrichment | CEACAM6 | 1.34 |
| 298 | Wolff-parkinson-white syndrome | Enrichment | JUP | 1.34 |
| 299 | Polycystic liver disease | Enrichment | CTNNB1 | 1.31 |
| 300 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.31 |
| 301 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 1.26 |
| 302 | Craniosynostosis | Enrichment | CTNNA1 | 1.24 |
| 303 | Lissencephaly | Enrichment | ACTG1 | 1.22 |
| 304 | Severe covid-19 | Enrichment | ITGAV | 1.21 |
| 305 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.20 |
| 306 | Myocardial infarction | Enrichment | ITGB3 | 1.20 |
| 307 | Auditory neuropathy | Enrichment | CDH2 | 1.13 |
| 308 | Hypertelorism | Enrichment | COL1A1 | 1.13 |
| 309 | Long qt syndrome | Enrichment | CTNNA3 | 1.06 |
| 310 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2 | 1.03 |
| 311 | Left ventricular noncompaction | Enrichment | ACTN2 | 1.01 |
| 312 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 1.00 |
| 313 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.93 |
| 314 | Hypertrophic cardiomyopathy | Enrichment | ACTN2 | 0.92 |
| 315 | Hereditary retinal dystrophy | Enrichment | COL18A1, LAMA1 | 0.87 |
| 316 | Fundus dystrophy | Enrichment | COL18A1, LAMA1 | 0.87 |
| 317 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.85 |
| 318 | Ovarian cancer | Enrichment | CTNNB1 | 0.59 |
| 319 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.57 |
| 320 | Nervous system disease | Enrichment | CTNNB1 | 0.57 |
| 321 | Inherited cancer-predisposing syndrome | Enrichment | CTNNA1 | 0.49 |
| 322 | Retinitis pigmentosa | Enrichment | COL18A1 | 0.42 |