| 1 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4, PLEC | 4.85 |
| 2 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1, CTNND1 | 4.09 |
| 3 | Leukocyte adhesion deficiency, type i | Enrichment | FERMT3, ITGB2 | 4.09 |
| 4 | Leukocyte adhesion deficiency, type iii | Enrichment | FERMT3, ITGB2 | 4.09 |
| 5 | Metaphyseal anadysplasia | Enrichment | MMP13, MMP9 | 4.09 |
| 6 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14, MMP2 | 3.61 |
| 7 | Epidermolysis bullosa, lethal acantholytic | Enrichment | DSP, JUP | 3.61 |
| 8 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2, DSP, JUP | 3.61 |
| 9 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1 | 3.32 |
| 10 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4, PLEC | 3.32 |
| 11 | Aplasia cutis congenita | Enrichment | ITGB4, PLEC | 3.10 |
| 12 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1, CCN2 | 3.10 |
| 13 | Skin disease | Enrichment | FERMT1, ITGB4, PLEC | 3.01 |
| 14 | Colorectal cancer | Enrichment | CDH1, CTNNA1, CTNNB1, EPCAM, PTPN12 | 2.94 |
| 15 | Limited scleroderma | Enrichment | CAV1, CCN2 | 2.92 |
| 16 | Cleft lip with or without cleft palate | Enrichment | CDH1, CTNND1 | 2.92 |
| 17 | Epidermolysis bullosa simplex | Enrichment | ITGB4, PLEC | 2.78 |
| 18 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4 | 2.55 |
| 19 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | DSP, JUP | 2.29 |
| 20 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | DSP, JUP | 2.29 |
| 21 | Neural tube defects | Enrichment | ITGB1, SCRIB | 2.22 |
| 22 | Multiple sclerosis | Enrichment | ITGB4, PLEC | 2.16 |
| 23 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DSP, JUP | 2.05 |
| 24 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.04 |
| 25 | Corneal dystrophy, epithelial basement membrane | Enrichment | TGFBI | 2.04 |
| 26 | Kindler syndrome | Enrichment | FERMT1 | 2.04 |
| 27 | Corneal dystrophy, groenouw type i | Enrichment | TGFBI | 2.04 |
| 28 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | Enrichment | CDH3 | 2.04 |
| 29 | Elsahy-waters syndrome | Enrichment | CDH11 | 2.04 |
| 30 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.04 |
| 31 | Ichthyosis, congenital, autosomal recessive 11 | Enrichment | ST14 | 2.04 |
| 32 | Corneal dystrophy, avellino type | Enrichment | TGFBI | 2.04 |
| 33 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.04 |
| 34 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.04 |
| 35 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.04 |
| 36 | Deafness, autosomal dominant 51 | Enrichment | TJP2 | 2.04 |
| 37 | Tubulointerstitial kidney disease, autosomal dominant 2 | Enrichment | MUC1 | 2.04 |
| 38 | Cone-rod dystrophy 9 | Enrichment | ADAM9 | 2.04 |
| 39 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.04 |
| 40 | Raph blood group system | Enrichment | CD151 | 2.04 |
| 41 | Breasts and/or nipples, aplasia or hypoplasia of, 1 | Enrichment | PTPRF | 2.04 |
| 42 | Corneal dystrophy, lattice type i | Enrichment | TGFBI | 2.04 |
| 43 | Corneal dystrophy, gelatinous drop-like | Enrichment | TACSTD2 | 2.04 |
| 44 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.04 |
| 45 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.04 |
| 46 | Naxos disease | Enrichment | JUP | 2.04 |
| 47 | Angioedema, hereditary, 4 | Enrichment | PLG | 2.04 |
| 48 | Corneal dystrophy, thiel-behnke type | Enrichment | TGFBI | 2.04 |
| 49 | Teebi hypertelorism syndrome 2 | Enrichment | CDH11 | 2.04 |
| 50 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | Enrichment | PTPRF | 2.04 |
| 51 | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | Enrichment | PPFIBP1 | 2.04 |
| 52 | Respiratory infections, recurrent, and failure to thrive with or without diarrhea | Enrichment | AGR2 | 2.04 |
| 53 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 2.04 |
| 54 | Winchester syndrome | Enrichment | MMP14 | 2.04 |
| 55 | Spondylometaepiphyseal dysplasia, short limb-hand type | Enrichment | DDR2 | 2.04 |
| 56 | Intellectual developmental disorder, x-linked 46 | Enrichment | ARHGEF6 | 2.04 |
| 57 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.04 |
| 58 | Epithelial-stromal tgfbi dystrophy | Enrichment | TGFBI | 2.04 |
| 59 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.04 |
| 60 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.04 |
| 61 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.04 |
| 62 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.04 |
| 63 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.04 |
| 64 | Hypotrichosis | Enrichment | CDH3 | 2.04 |
| 65 | Corneal dystrophy, lattice type iiia | Enrichment | TGFBI | 2.04 |
| 66 | Corneal dystrophy, reis-bucklers type | Enrichment | TGFBI | 2.04 |
| 67 | Epidermolysis bullosa simplex 7, with nephropathy and deafness | Enrichment | CD151 | 2.04 |
| 68 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.04 |
| 69 | Granular corneal dystrophy | Enrichment | TGFBI | 2.04 |
| 70 | Coronary heart disease 6 | Enrichment | MMP3 | 2.04 |
| 71 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.04 |
| 72 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.04 |
| 73 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.04 |
| 74 | Lynch syndrome 8 | Enrichment | EPCAM | 2.04 |
| 75 | Ectodermal dysplasia-syndactyly syndrome 1 | Enrichment | NECTIN4 | 2.04 |
| 76 | Choanal atresia and lymphedema | Enrichment | PTPN14 | 2.04 |
| 77 | Amyloidosis, primary localized cutaneous, 3 | Enrichment | GPNMB | 2.04 |
| 78 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.04 |
| 79 | Warburg-cinotti syndrome | Enrichment | DDR2 | 2.04 |
| 80 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.04 |
| 81 | Microcephaly 29, primary, autosomal recessive | Enrichment | PDCD6IP | 2.04 |
| 82 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.04 |
| 83 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.04 |
| 84 | Epithelial basement membrane dystrophy | Enrichment | TGFBI | 2.04 |
| 85 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Enrichment | DSP | 2.04 |
| 86 | Breast lobular carcinoma | Enrichment | CDH1 | 2.04 |
| 87 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.04 |
| 88 | Capillary leak syndrome | Enrichment | TLN1 | 2.04 |
| 89 | Qualitative or quantitative defects of plectin | Enrichment | PLEC | 2.04 |
| 90 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.04 |
| 91 | Lymphedema-posterior choanal atresia syndrome | Enrichment | PTPN14 | 2.04 |
| 92 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.04 |
| 93 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.04 |
| 94 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, CTNNA1, CTNNA2 | 1.87 |
| 95 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 1.74 |
| 96 | Epidermolysis bullosa simplex 5a, ogna type | Enrichment | PLEC | 1.74 |
| 97 | Epidermolysis bullosa simplex 5b, with muscular dystrophy | Enrichment | PLEC | 1.74 |
| 98 | Metaphyseal dysplasia, spahr type | Enrichment | MMP13 | 1.74 |
| 99 | Plasminogen deficiency, type i | Enrichment | PLG | 1.74 |
| 100 | Kyphomelic dysplasia | Enrichment | CCN2 | 1.74 |
| 101 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.74 |
| 102 | Spondyloepimetaphyseal dysplasia, missouri type | Enrichment | MMP13 | 1.74 |
| 103 | Arrhythmogenic right ventricular dysplasia, familial, 8 | Enrichment | DSP | 1.74 |
| 104 | Hypotrichosis, congenital, with juvenile macular dystrophy | Enrichment | CDH3 | 1.74 |
| 105 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 1.74 |
| 106 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 1.74 |
| 107 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.74 |
| 108 | Cholestasis, progressive familial intrahepatic, 4 | Enrichment | TJP2 | 1.74 |
| 109 | Diarrhea 5, with tufting enteropathy, congenital | Enrichment | EPCAM | 1.74 |
| 110 | Muscular dystrophy, limb-girdle, autosomal recessive 17 | Enrichment | PLEC | 1.74 |
| 111 | Syndactyly, type iii | Enrichment | GJA1 | 1.74 |
| 112 | Syndactyly, type v | Enrichment | GJA1 | 1.74 |
| 113 | Keratosis palmoplantaris striata ii | Enrichment | DSP | 1.74 |
| 114 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 1.74 |
| 115 | Oocyte/zygote/embryo maturation arrest 7 | Enrichment | PANX1 | 1.74 |
| 116 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Enrichment | DSP | 1.74 |
| 117 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 1.74 |
| 118 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 1.74 |
| 119 | Dystonia 30 | Enrichment | PTPRA | 1.74 |
| 120 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.74 |
| 121 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 1.74 |
| 122 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.74 |
| 123 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.74 |
| 124 | Autosomal recessive limb-girdle muscular dystrophy type 2q | Enrichment | PLEC | 1.74 |
| 125 | Progressive familial heart block | Enrichment | DSP | 1.74 |
| 126 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.74 |
| 127 | Stickler syndrome, type ii | Enrichment | COL1A1 | 1.74 |
| 128 | Cardiomyopathy, dilated, with woolly hair and keratoderma | Enrichment | DSP | 1.74 |
| 129 | Hereditary angioedema | Enrichment | PLG | 1.74 |
| 130 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.74 |
| 131 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 1.74 |
| 132 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.74 |
| 133 | Teratoma | Enrichment | CTNNB1 | 1.74 |
| 134 | Malignant peripheral nerve sheath tumor with perineurial differentiation | Enrichment | SH3PXD2A | 1.74 |
| 135 | Malignant triton tumor | Enrichment | SH3PXD2A | 1.74 |
| 136 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.57 |
| 137 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.57 |
| 138 | Angioedema, hereditary, 1 | Enrichment | PLG | 1.57 |
| 139 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.57 |
| 140 | Hypercholanemia, familial 1 | Enrichment | TJP2 | 1.57 |
| 141 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.57 |
| 142 | Caffey disease | Enrichment | COL1A1 | 1.57 |
| 143 | Anus, imperforate | Enrichment | CTNNB1 | 1.57 |
| 144 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | Enrichment | DSP | 1.57 |
| 145 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.57 |
| 146 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.57 |
| 147 | Woolly hair-skin fragility syndrome | Enrichment | DSP | 1.57 |
| 148 | Desmoid tumor | Enrichment | CTNNB1 | 1.57 |
| 149 | Keratosis palmoplantaris striata | Enrichment | DSP | 1.57 |
| 150 | Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive | Enrichment | PLEC | 1.57 |
| 151 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.57 |
| 152 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 1.57 |
| 153 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.57 |
| 154 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 1.45 |
| 155 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.45 |
| 156 | Phenylketonuria | Enrichment | COL1A1 | 1.45 |
| 157 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.45 |
| 158 | Pilomatrixoma | Enrichment | CTNNB1 | 1.45 |
| 159 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.45 |
| 160 | Alazami syndrome | Enrichment | CTNNB1 | 1.45 |
| 161 | Craniopharyngioma | Enrichment | CTNNB1 | 1.45 |
| 162 | Corneal dystrophy | Enrichment | TGFBI | 1.45 |
| 163 | Cerebral malaria | Enrichment | ICAM1 | 1.45 |
| 164 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 1.45 |
| 165 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.45 |
| 166 | Dilated cardiomyopathy | Enrichment | DSP, JUP, VCL | 1.44 |
| 167 | Epidermolysis bullosa simplex 2f, with mottled pigmentation | Enrichment | PLEC | 1.35 |
| 168 | Epidermolysis bullosa simplex 1a, generalized severe | Enrichment | PLEC | 1.35 |
| 169 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.35 |
| 170 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.35 |
| 171 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.35 |
| 172 | Cardiac arrest | Enrichment | DSP | 1.35 |
| 173 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.35 |
| 174 | Cleft upper lip | Enrichment | GJA1 | 1.35 |
| 175 | Female infertility due to oocyte meiotic arrest | Enrichment | PANX1 | 1.35 |
| 176 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.27 |
| 177 | Branchiootorenal syndrome 1 | Enrichment | TJP2 | 1.27 |
| 178 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.27 |
| 179 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.27 |
| 180 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.27 |
| 181 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.27 |
| 182 | Keratoconus | Enrichment | COL1A1 | 1.27 |
| 183 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.27 |
| 184 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.27 |
| 185 | Classic ehlers-danlos syndrome | Enrichment | COL1A1 | 1.27 |
| 186 | Familial hypercholanemia | Enrichment | TJP2 | 1.27 |
| 187 | Inherited arrhythmogenic cardiomyopathy | Enrichment | DSP | 1.27 |
| 188 | Gastric cancer | Enrichment | CDH1, EPCAM | 1.24 |
| 189 | Hereditary breast carcinoma | Enrichment | CDH1, EPCAM | 1.22 |
| 190 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.21 |
| 191 | Fundus albipunctatus | Enrichment | CD63 | 1.21 |
| 192 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.21 |
| 193 | Branchiootorenal syndrome | Enrichment | TJP2 | 1.21 |
| 194 | Gallbladder cancer | Enrichment | CTNNB1 | 1.21 |
| 195 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.15 |
| 196 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.15 |
| 197 | Myocarditis | Enrichment | DSP | 1.15 |
| 198 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.15 |
| 199 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | DSP | 1.10 |
| 200 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.10 |
| 201 | Colonic benign neoplasm | Enrichment | EPCAM | 1.10 |
| 202 | Primary biliary cholangitis | Enrichment | TJP2 | 1.10 |
| 203 | Familial isolated arrhythmogenic right ventricular dysplasia | Enrichment | DSP | 1.10 |
| 204 | Hypotrichosis simplex | Enrichment | CDH3 | 1.10 |
| 205 | Familial isolated dilated cardiomyopathy | Enrichment | DSP, VCL | 1.08 |
| 206 | Lynch syndrome 1 | Enrichment | EPCAM | 1.06 |
| 207 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.06 |
| 208 | Primary bone dysplasia | Enrichment | COL1A1 | 1.06 |
| 209 | Osteochondrodysplasia | Enrichment | COL1A1 | 1.02 |
| 210 | Ichthyosis | Enrichment | ST14 | 1.02 |
| 211 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.02 |
| 212 | Cardiac conduction defect | Enrichment | DSP | 0.98 |
| 213 | Aortic valve disease 1 | Enrichment | DSP | 0.95 |
| 214 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1 | 0.95 |
| 215 | Inherited cancer-predisposing syndrome | Enrichment | CDH1, CTNNA1, EPCAM | 0.93 |
| 216 | Osteoporosis | Enrichment | COL1A1 | 0.92 |
| 217 | Medulloblastoma | Enrichment | CTNNB1 | 0.92 |
| 218 | Cleft lip/palate | Enrichment | CDH1 | 0.92 |
| 219 | Isolated macular dystrophy | Enrichment | ITGA4 | 0.92 |
| 220 | Hereditary retinal dystrophy | Enrichment | ADAM9, CD63, CDH3, CTNNA1, ITGA4 | 0.91 |
| 221 | Fundus dystrophy | Enrichment | ADAM9, CD63, CDH3, CTNNA1, ITGA4 | 0.91 |
| 222 | Cone-rod dystrophy 2 | Enrichment | ADAM9, ITGA4 | 0.90 |
| 223 | Corpus callosum, agenesis of | Enrichment | CDH2 | 0.89 |
| 224 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 0.89 |
| 225 | Lynch syndrome | Enrichment | EPCAM | 0.89 |
| 226 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 0.89 |
| 227 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 0.89 |
| 228 | Wolff-parkinson-white syndrome | Enrichment | JUP | 0.87 |
| 229 | Hypertension, essential | Enrichment | ATP1B1 | 0.84 |
| 230 | Interstitial lung disease 2 | Enrichment | DSP | 0.84 |
| 231 | Polycystic liver disease | Enrichment | CTNNB1 | 0.84 |
| 232 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.84 |
| 233 | Breast cancer | Enrichment | CDH1, EPCAM | 0.83 |
| 234 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 0.80 |
| 235 | Ehlers-danlos syndrome | Enrichment | COL1A1 | 0.80 |
| 236 | Craniosynostosis | Enrichment | CTNNA1 | 0.78 |
| 237 | Cardiomyopathy, dilated, 1a | Enrichment | DSP | 0.76 |
| 238 | Endometrial cancer | Enrichment | CDH1 | 0.76 |
| 239 | Hepatoblastoma | Enrichment | CTNNB1 | 0.76 |
| 240 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.74 |
| 241 | Cardiomyopathy, dilated, 1g | Enrichment | DSP | 0.74 |
| 242 | Myocardial infarction | Enrichment | ITGB3 | 0.74 |
| 243 | Brittle bone disorder | Enrichment | COL1A1 | 0.72 |
| 244 | Malaria | Enrichment | ICAM1 | 0.72 |
| 245 | Congenital stationary night blindness | Enrichment | CD63 | 0.72 |
| 246 | Auditory neuropathy | Enrichment | CDH2 | 0.68 |
| 247 | Bladder cancer | Enrichment | CTNNB1 | 0.63 |
| 248 | Prostate cancer | Enrichment | CDH1 | 0.63 |
| 249 | Severe covid-19 | Enrichment | ITGAV | 0.63 |
| 250 | Ovarian cancer | Enrichment | CDH1, CTNNB1 | 0.63 |
| 251 | Long qt syndrome 1 | Enrichment | DSP | 0.62 |
| 252 | Long qt syndrome | Enrichment | DSP | 0.61 |
| 253 | Cystic fibrosis | Enrichment | PLG | 0.60 |
| 254 | Primary autosomal recessive microcephaly | Enrichment | PDCD6IP | 0.60 |
| 255 | Left ventricular noncompaction | Enrichment | DSP | 0.56 |
| 256 | Non-syndromic x-linked intellectual disability | Enrichment | ARHGEF6 | 0.55 |
| 257 | Myopathy | Enrichment | PLEC | 0.51 |
| 258 | Microcephaly | Enrichment | CTNNB1, PPFIBP1 | 0.51 |
| 259 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1 | 0.48 |
| 260 | Thrombocytopenia | Enrichment | ITGB3 | 0.45 |
| 261 | Body mass index quantitative trait locus 11 | Enrichment | DIXDC1 | 0.44 |
| 262 | Hypertelorism | Enrichment | COL1A1 | 0.42 |
| 263 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TJP2 | 0.42 |
| 264 | Primary ovarian insufficiency | Enrichment | ADAMTS1 | 0.38 |
| 265 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.25 |
| 266 | Retinitis pigmentosa | Enrichment | ADAM9, CDH3 | 0.24 |
| 267 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.21 |
| 268 | Nervous system disease | Enrichment | CTNNB1 | 0.21 |