| 1 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4, LAMA3 | 4.95 |
| 2 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4, LAMA3 | 3.40 |
| 3 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 3.40 |
| 4 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4, LAMA3 | 3.40 |
| 5 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGB3 | 3.40 |
| 6 | Nephrotic syndrome | Enrichment | FN1, ITGA3, LAMB2 | 2.84 |
| 7 | Walker-warburg syndrome | Enrichment | COL4A1, DAG1 | 2.63 |
| 8 | Corpus callosum, agenesis of | Enrichment | CDH2, COL4A1 | 2.57 |
| 9 | Isolated corpus callosum agenesis | Enrichment | CDH2, COL4A1 | 2.57 |
| 10 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2, COL4A1 | 2.57 |
| 11 | Microcephaly | Enrichment | ACTB, COL4A1, CTNNB1, SLC2A1 | 2.41 |
| 12 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.28 |
| 13 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 2.28 |
| 14 | Atrophoderma vermiculata | Enrichment | LRP1 | 2.28 |
| 15 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.28 |
| 16 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.28 |
| 17 | Systemic lupus erythematosus 6 | Enrichment | ITGAM | 2.28 |
| 18 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.28 |
| 19 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.28 |
| 20 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.28 |
| 21 | Colchicine resistance | Enrichment | ABCB1 | 2.28 |
| 22 | Uric acid concentration, serum, quantitative trait locus 1 | Enrichment | ABCG2 | 2.28 |
| 23 | Keratosis pilaris atrophicans | Enrichment | LRP1 | 2.28 |
| 24 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.28 |
| 25 | Erythrocyte lactate transporter defect | Enrichment | SLC16A1 | 2.28 |
| 26 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.28 |
| 27 | Basal ganglia calcification, idiopathic, 8, autosomal recessive | Enrichment | JAM2 | 2.28 |
| 28 | Helix syndrome | Enrichment | CLDN10 | 2.28 |
| 29 | Encephalopathy, acute transient | Enrichment | ABCB1 | 2.28 |
| 30 | Deafness, autosomal dominant 77 | Enrichment | ABCC1 | 2.28 |
| 31 | Deafness, autosomal recessive 116 | Enrichment | CLDN9 | 2.28 |
| 32 | Allan-herndon-dudley syndrome | Enrichment | SLC16A2 | 2.28 |
| 33 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.28 |
| 34 | Azoospermia, obstructive, with nephrolithiasis | Enrichment | CLDN2 | 2.28 |
| 35 | Porencephaly | Enrichment | COL4A1 | 2.28 |
| 36 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.28 |
| 37 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.28 |
| 38 | Inflammatory bowel disease 13 | Enrichment | ABCB1 | 2.28 |
| 39 | Becker nevus syndrome | Enrichment | ACTB | 2.28 |
| 40 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.28 |
| 41 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.28 |
| 42 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.28 |
| 43 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | Enrichment | JAM3 | 2.28 |
| 44 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.28 |
| 45 | Blood group, junior system | Enrichment | ABCG2 | 2.28 |
| 46 | Leukodystrophy, hypomyelinating, 22 | Enrichment | CLDN11 | 2.28 |
| 47 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.28 |
| 48 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.28 |
| 49 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.28 |
| 50 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.28 |
| 51 | Baraitser-winter syndrome | Enrichment | ACTB | 2.28 |
| 52 | Col4a1-related disorders | Enrichment | COL4A1 | 2.28 |
| 53 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 2.28 |
| 54 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 2.28 |
| 55 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.28 |
| 56 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.28 |
| 57 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.28 |
| 58 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.28 |
| 59 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.28 |
| 60 | Porencephaly-microcephaly-bilateral congenital cataract syndrome | Enrichment | JAM3 | 2.28 |
| 61 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.28 |
| 62 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.28 |
| 63 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.98 |
| 64 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.98 |
| 65 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.98 |
| 66 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 1.98 |
| 67 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 1.98 |
| 68 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.98 |
| 69 | Dystonia 9 | Enrichment | SLC2A1 | 1.98 |
| 70 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1 | 1.98 |
| 71 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 1.98 |
| 72 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.98 |
| 73 | Monocarboxylate transporter 1 deficiency | Enrichment | SLC16A1 | 1.98 |
| 74 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.98 |
| 75 | Hypomagnesemia 5, renal, with or without ocular involvement | Enrichment | CLDN19 | 1.98 |
| 76 | Pierson syndrome | Enrichment | LAMB2 | 1.98 |
| 77 | Schwartz-jampel syndrome, type 1 | Enrichment | HSPG2 | 1.98 |
| 78 | Syndactyly, type iii | Enrichment | GJA1 | 1.98 |
| 79 | Syndactyly, type v | Enrichment | GJA1 | 1.98 |
| 80 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 1.98 |
| 81 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.98 |
| 82 | Developmental dysplasia of the hip 3 | Enrichment | LRP1 | 1.98 |
| 83 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 1.98 |
| 84 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.98 |
| 85 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.98 |
| 86 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 1.98 |
| 87 | Renal hypomagnesemia 5 with ocular involvement | Enrichment | CLDN19 | 1.98 |
| 88 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.98 |
| 89 | Hyperinsulinemic hypoglycemia, familial, 7 | Enrichment | SLC16A1 | 1.98 |
| 90 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 1.98 |
| 91 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB | 1.98 |
| 92 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.98 |
| 93 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.98 |
| 94 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | Enrichment | SLC16A1 | 1.98 |
| 95 | Teratoma | Enrichment | CTNNB1 | 1.98 |
| 96 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.81 |
| 97 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.81 |
| 98 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.81 |
| 99 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.81 |
| 100 | Dubin-johnson syndrome | Enrichment | ABCC2 | 1.81 |
| 101 | Dyssegmental dysplasia, silverman-handmaker type | Enrichment | HSPG2 | 1.81 |
| 102 | Hyperbilirubinemia, rotor type | Enrichment | SLCO1B1 | 1.81 |
| 103 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.81 |
| 104 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 1.81 |
| 105 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.81 |
| 106 | Anus, imperforate | Enrichment | CTNNB1 | 1.81 |
| 107 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.81 |
| 108 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.81 |
| 109 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.81 |
| 110 | Keratosis follicularis spinulosa decalvans | Enrichment | LRP1 | 1.81 |
| 111 | Desmoid tumor | Enrichment | CTNNB1 | 1.81 |
| 112 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 1.81 |
| 113 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 1.81 |
| 114 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.81 |
| 115 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.81 |
| 116 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1 | 1.68 |
| 117 | Schizencephaly | Enrichment | COL4A1 | 1.68 |
| 118 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.68 |
| 119 | Pilomatrixoma | Enrichment | CTNNB1 | 1.68 |
| 120 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.68 |
| 121 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.68 |
| 122 | Alazami syndrome | Enrichment | CTNNB1 | 1.68 |
| 123 | Craniopharyngioma | Enrichment | CTNNB1 | 1.68 |
| 124 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.68 |
| 125 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.59 |
| 126 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.59 |
| 127 | Myasthenic syndrome, congenital, 8 | Enrichment | AGRN | 1.59 |
| 128 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.59 |
| 129 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.59 |
| 130 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.59 |
| 131 | Cleft upper lip | Enrichment | GJA1 | 1.59 |
| 132 | Familial porencephaly | Enrichment | COL4A1 | 1.59 |
| 133 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.51 |
| 134 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3 | 1.51 |
| 135 | Pseudoxanthoma elasticum | Enrichment | ABCC2 | 1.51 |
| 136 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 1.51 |
| 137 | Hemorrhage, intracerebral | Enrichment | COL4A1 | 1.51 |
| 138 | Keratoconus | Enrichment | COL4A1 | 1.51 |
| 139 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.51 |
| 140 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.44 |
| 141 | Gallbladder cancer | Enrichment | CTNNB1 | 1.44 |
| 142 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.44 |
| 143 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.44 |
| 144 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.39 |
| 145 | Basal ganglia calcification, idiopathic, 1 | Enrichment | JAM2 | 1.39 |
| 146 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.39 |
| 147 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 1.39 |
| 148 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.39 |
| 149 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.34 |
| 150 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.34 |
| 151 | Peters-plus syndrome | Enrichment | COL4A1 | 1.29 |
| 152 | Nephrocalcinosis | Enrichment | CLDN19 | 1.29 |
| 153 | Nephrolithiasis | Enrichment | CLDN19 | 1.29 |
| 154 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.29 |
| 155 | Gilbert syndrome | Enrichment | SLCO1B1 | 1.25 |
| 156 | Epilepsy, idiopathic generalized | Enrichment | ABCB1 | 1.25 |
| 157 | Presynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.25 |
| 158 | Postsynaptic congenital myasthenic syndromes | Enrichment | AGRN | 1.21 |
| 159 | Neural tube defects | Enrichment | ITGB1 | 1.18 |
| 160 | Chromosome 1p36 deletion syndrome | Enrichment | HSPG2 | 1.18 |
| 161 | Multiple sclerosis | Enrichment | ITGB4 | 1.15 |
| 162 | Medulloblastoma | Enrichment | CTNNB1 | 1.15 |
| 163 | Congenital myasthenic syndrome | Enrichment | AGRN | 1.15 |
| 164 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.15 |
| 165 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.15 |
| 166 | Anterior segment dysgenesis | Enrichment | COL4A1 | 1.12 |
| 167 | Kidney disease | Enrichment | LAMB2 | 1.12 |
| 168 | Creatine phosphokinase, elevated serum | Enrichment | DAG1 | 1.09 |
| 169 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1 | 1.09 |
| 170 | Isolated congenital microcephaly | Enrichment | OCLN | 1.09 |
| 171 | Polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 172 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 173 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 1.02 |
| 174 | Hepatoblastoma | Enrichment | CTNNB1 | 0.98 |
| 175 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.96 |
| 176 | Myocardial infarction | Enrichment | ITGB3 | 0.96 |
| 177 | Skin disease | Enrichment | ITGB4 | 0.96 |
| 178 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 0.91 |
| 179 | Auditory neuropathy | Enrichment | CDH2 | 0.89 |
| 180 | Strabismus | Enrichment | SLC2A1 | 0.88 |
| 181 | Bladder cancer | Enrichment | CTNNB1 | 0.85 |
| 182 | Severe covid-19 | Enrichment | ITGAV | 0.85 |
| 183 | Male infertility | Enrichment | CLDN2 | 0.79 |
| 184 | Cakut | Enrichment | COL4A1 | 0.79 |
| 185 | Systemic lupus erythematosus | Enrichment | ITGAM | 0.73 |
| 186 | Cerebral palsy | Enrichment | COL4A1 | 0.73 |
| 187 | Epilepsy | Enrichment | SLC2A1 | 0.72 |
| 188 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.71 |
| 189 | Hereditary spastic paraplegia | Enrichment | SLC16A2 | 0.70 |
| 190 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.69 |
| 191 | West syndrome | Enrichment | SLC2A1 | 0.69 |
| 192 | Thrombocytopenia | Enrichment | ITGB3 | 0.65 |
| 193 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ABCC1 | 0.62 |
| 194 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.61 |
| 195 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.52 |
| 196 | Colorectal cancer | Enrichment | CTNNB1 | 0.43 |
| 197 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.43 |
| 198 | Ovarian cancer | Enrichment | CTNNB1 | 0.38 |
| 199 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.37 |
| 200 | Nervous system disease | Enrichment | CTNNB1 | 0.37 |
| 201 | Hereditary retinal dystrophy | Enrichment | ITGA4, LAMA1 | 0.35 |
| 202 | Fundus dystrophy | Enrichment | ITGA4, LAMA1 | 0.35 |