| 1 | Chronic granulomatous disease | Enrichment | CYBA, NCF1, NCF2, NCF4 | 6.90 |
| 2 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | Enrichment | CLDN1, CLDN16 | 5.33 |
| 3 | Hypomagnesemia 5, renal, with or without ocular involvement | Enrichment | CLDN16, CLDN19 | 5.33 |
| 4 | Renal hypomagnesemia 5 with ocular involvement | Enrichment | CLDN16, CLDN19 | 5.33 |
| 5 | Colorectal cancer | Enrichment | AKT1, CTNNA1, CTNNB1, PIK3R1, SRC | 4.36 |
| 6 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.23 |
| 7 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.23 |
| 8 | Granulomatous disease, chronic, autosomal recessive, 2 | Enrichment | NCF1, NCF2 | 4.01 |
| 9 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.93 |
| 10 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.93 |
| 11 | Nephrocalcinosis | Enrichment | CLDN16, CLDN19 | 3.68 |
| 12 | Nephrolithiasis | Enrichment | CLDN16, CLDN19 | 3.68 |
| 13 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.06 |
| 14 | Human immunodeficiency virus type 1 | Enrichment | CCL2, CCR2 | 2.74 |
| 15 | Hypomagnesemia 3, renal | Enrichment | CLDN16 | 2.66 |
| 16 | Helix syndrome | Enrichment | CLDN10 | 2.66 |
| 17 | Deafness, autosomal recessive 116 | Enrichment | CLDN9 | 2.66 |
| 18 | Azoospermia, obstructive, with nephrolithiasis | Enrichment | CLDN2 | 2.66 |
| 19 | Leukodystrophy, hypomyelinating, 22 | Enrichment | CLDN11 | 2.66 |
| 20 | Primary hypomagnesemia | Enrichment | CLDN16 | 2.66 |
| 21 | Pseudo-torch syndrome 1 | Enrichment | OCLN | 2.45 |
| 22 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.45 |
| 23 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.45 |
| 24 | Deafness, autosomal dominant 51 | Enrichment | TJP2 | 2.45 |
| 25 | Cardiomyopathy, familial hypertrophic, 8 | Enrichment | MYL3 | 2.45 |
| 26 | Polycystic lung disease | Enrichment | CCR2 | 2.45 |
| 27 | Arrhythmogenic right ventricular dysplasia, familial, 13 | Enrichment | CTNNA3 | 2.45 |
| 28 | Basal ganglia calcification, idiopathic, 8, autosomal recessive | Enrichment | JAM2 | 2.45 |
| 29 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.45 |
| 30 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 2.45 |
| 31 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.45 |
| 32 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.45 |
| 33 | Becker nevus syndrome | Enrichment | ACTB | 2.45 |
| 34 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.45 |
| 35 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | Enrichment | JAM3 | 2.45 |
| 36 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.45 |
| 37 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.45 |
| 38 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.45 |
| 39 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.45 |
| 40 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.45 |
| 41 | Baraitser-winter syndrome | Enrichment | ACTB | 2.45 |
| 42 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.45 |
| 43 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.45 |
| 44 | Porencephaly-microcephaly-bilateral congenital cataract syndrome | Enrichment | JAM3 | 2.45 |
| 45 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.45 |
| 46 | Deafness, autosomal recessive 29 | Enrichment | CLDN14 | 2.35 |
| 47 | Proteus syndrome | Enrichment | AKT1 | 2.35 |
| 48 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.35 |
| 49 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.35 |
| 50 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.35 |
| 51 | Short syndrome | Enrichment | PIK3R1 | 2.35 |
| 52 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.35 |
| 53 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.35 |
| 54 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.35 |
| 55 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.35 |
| 56 | Autoimmune disease, multisystem, with facial dysmorphism | Enrichment | ITCH | 2.35 |
| 57 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.35 |
| 58 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.35 |
| 59 | Cowden syndrome 6 | Enrichment | AKT1 | 2.35 |
| 60 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.35 |
| 61 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.35 |
| 62 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.35 |
| 63 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.35 |
| 64 | Thrombocytopenia 6 | Enrichment | SRC | 2.35 |
| 65 | Tufted angioma of skin | Enrichment | KDR | 2.35 |
| 66 | Syndromic multisystem autoimmune disease due to itch deficiency | Enrichment | ITCH | 2.35 |
| 67 | Capillary hemangioma | Enrichment | AKT3 | 2.35 |
| 68 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.35 |
| 69 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.35 |
| 70 | Bladder cancer | Enrichment | CTNNA3, CTNNB1 | 2.33 |
| 71 | Metachondromatosis | Enrichment | PTPN11 | 2.24 |
| 72 | Granulomatous disease, chronic, autosomal recessive, 4 | Enrichment | CYBA | 2.24 |
| 73 | Immunodeficiency 50 | Enrichment | MSN | 2.24 |
| 74 | Deafness, autosomal recessive 24 | Enrichment | RDX | 2.24 |
| 75 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.24 |
| 76 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.24 |
| 77 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.24 |
| 78 | Malignant astrocytoma | Enrichment | PTPN11 | 2.24 |
| 79 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.21 |
| 80 | Thrombocytopenia 5 | Enrichment | CLDN16 | 2.18 |
| 81 | Arachnoid cyst | Enrichment | PALS1 | 2.18 |
| 82 | Blepharocheilodontic syndrome 1 | Enrichment | CTNND1 | 2.15 |
| 83 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.15 |
| 84 | Cholestasis, progressive familial intrahepatic, 4 | Enrichment | TJP2 | 2.15 |
| 85 | Genitourinary and/or brain malformation syndrome | Enrichment | PPP1R12A | 2.15 |
| 86 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.15 |
| 87 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.15 |
| 88 | Ocular melanoma | Enrichment | PLCB4 | 2.15 |
| 89 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB | 2.15 |
| 90 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.15 |
| 91 | Teratoma | Enrichment | CTNNB1 | 2.15 |
| 92 | Long qt syndrome | Enrichment | CALM1, CTNNA3 | 2.07 |
| 93 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 2.05 |
| 94 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.05 |
| 95 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.05 |
| 96 | Angioma, tufted | Enrichment | KDR | 2.05 |
| 97 | Long qt syndrome 14 | Enrichment | CALM1 | 2.05 |
| 98 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.05 |
| 99 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.05 |
| 100 | Split hand-foot malformation | Enrichment | LEF1 | 2.05 |
| 101 | Immune system disease | Enrichment | PIK3CD | 2.05 |
| 102 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.05 |
| 103 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.98 |
| 104 | Hypercholanemia, familial 1 | Enrichment | TJP2 | 1.98 |
| 105 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.98 |
| 106 | Aortic aneurysm, familial thoracic 7 | Enrichment | MYLK | 1.98 |
| 107 | Anus, imperforate | Enrichment | CTNNB1 | 1.98 |
| 108 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.98 |
| 109 | Desmoid tumor | Enrichment | CTNNB1 | 1.98 |
| 110 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.98 |
| 111 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.94 |
| 112 | Granulomatous disease, chronic, autosomal recessive, 1 | Enrichment | NCF1 | 1.94 |
| 113 | Granulomatous disease, chronic, autosomal recessive, 3 | Enrichment | NCF4 | 1.94 |
| 114 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.94 |
| 115 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 1.94 |
| 116 | Werner syndrome | Enrichment | PTPN11 | 1.94 |
| 117 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.94 |
| 118 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.94 |
| 119 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 1.91 |
| 120 | Anxiety | Enrichment | PALS1 | 1.88 |
| 121 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.87 |
| 122 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1 | 1.85 |
| 123 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYLK | 1.85 |
| 124 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.85 |
| 125 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.85 |
| 126 | Pilomatrixoma | Enrichment | CTNNB1 | 1.85 |
| 127 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.85 |
| 128 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.85 |
| 129 | Alazami syndrome | Enrichment | CTNNB1 | 1.85 |
| 130 | Craniopharyngioma | Enrichment | CTNNB1 | 1.85 |
| 131 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.85 |
| 132 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1, CTNNA2 | 1.79 |
| 133 | Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia | Enrichment | CYBA | 1.77 |
| 134 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.77 |
| 135 | Autoimmune polyendocrine syndrome type 1 | Enrichment | CYBA | 1.77 |
| 136 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.77 |
| 137 | Perrault syndrome | Enrichment | CLDN14 | 1.76 |
| 138 | Visceral myopathy 1 | Enrichment | MYLK | 1.76 |
| 139 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.76 |
| 140 | Knobloch syndrome | Enrichment | PAK2 | 1.75 |
| 141 | Melanoma, uveal | Enrichment | PLCB4 | 1.68 |
| 142 | Branchiootorenal syndrome 1 | Enrichment | TJP2 | 1.68 |
| 143 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.68 |
| 144 | Hemihyperplasia, isolated | Enrichment | RHOA | 1.68 |
| 145 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.68 |
| 146 | Familial hypercholanemia | Enrichment | TJP2 | 1.68 |
| 147 | Cleft lip with or without cleft palate | Enrichment | CTNND1 | 1.68 |
| 148 | Alzheimer disease 2 | Enrichment | NOS3 | 1.65 |
| 149 | Rhabdomyosarcoma 2 | Enrichment | FOXO1 | 1.65 |
| 150 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.65 |
| 151 | Pre-eclampsia | Enrichment | NOS3 | 1.65 |
| 152 | Hemimegalencephaly | Enrichment | AKT3 | 1.65 |
| 153 | Granulomatous disease, chronic, x-linked | Enrichment | NCF1 | 1.64 |
| 154 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 1.64 |
| 155 | Hereditary ataxia | Enrichment | PRKCG | 1.64 |
| 156 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.64 |
| 157 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.64 |
| 158 | Cerebral malaria | Enrichment | ICAM1 | 1.64 |
| 159 | Branchiootorenal syndrome | Enrichment | TJP2 | 1.61 |
| 160 | Gallbladder cancer | Enrichment | CTNNB1 | 1.61 |
| 161 | Hypertrophic cardiomyopathy | Enrichment | MYL3, PTPN11 | 1.60 |
| 162 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.57 |
| 163 | Hemangioma, capillary infantile | Enrichment | KDR | 1.57 |
| 164 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.57 |
| 165 | Breast adenocarcinoma | Enrichment | AKT1 | 1.57 |
| 166 | Basal ganglia calcification, idiopathic, 1 | Enrichment | JAM2 | 1.55 |
| 167 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.55 |
| 168 | Neural tube defects | Enrichment | PARD3 | 1.55 |
| 169 | Lymphoma | Enrichment | PTPN11 | 1.55 |
| 170 | Primary ovarian insufficiency | Enrichment | KDR, NOS3 | 1.54 |
| 171 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.51 |
| 172 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.51 |
| 173 | Myelofibrosis | Enrichment | SRC | 1.51 |
| 174 | Megacolon | Enrichment | AKT3 | 1.51 |
| 175 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.51 |
| 176 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.50 |
| 177 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.50 |
| 178 | Primary biliary cholangitis | Enrichment | TJP2 | 1.50 |
| 179 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYLK | 1.50 |
| 180 | Microcephaly | Enrichment | ACTB, CTNNB1, PTPN11 | 1.47 |
| 181 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.47 |
| 182 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.45 |
| 183 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1 | 1.45 |
| 184 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.40 |
| 185 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.40 |
| 186 | Cowden syndrome | Enrichment | AKT1 | 1.40 |
| 187 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | CTNNA3 | 1.38 |
| 188 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | CTNNA3 | 1.38 |
| 189 | Stroke, ischemic | Enrichment | NOS3 | 1.36 |
| 190 | Polymicrogyria | Enrichment | AKT3 | 1.36 |
| 191 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.35 |
| 192 | Medulloblastoma | Enrichment | CTNNB1 | 1.31 |
| 193 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYLK | 1.31 |
| 194 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CTNNA3 | 1.31 |
| 195 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | NCF1 | 1.30 |
| 196 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.30 |
| 197 | Meningioma | Enrichment | AKT1 | 1.28 |
| 198 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | CTNNA3 | 1.26 |
| 199 | Isolated congenital microcephaly | Enrichment | OCLN | 1.26 |
| 200 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.24 |
| 201 | Polycystic liver disease | Enrichment | CTNNB1 | 1.23 |
| 202 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.23 |
| 203 | Osteoporosis | Enrichment | SRC | 1.21 |
| 204 | Pectus excavatum | Enrichment | PTPN11 | 1.21 |
| 205 | Specific learning disability | Enrichment | PTPN11 | 1.21 |
| 206 | Epicanthus | Enrichment | PTPN11 | 1.17 |
| 207 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.17 |
| 208 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.17 |
| 209 | Craniosynostosis | Enrichment | CTNNA1 | 1.16 |
| 210 | Hepatoblastoma | Enrichment | CTNNB1 | 1.14 |
| 211 | Male infertility | Enrichment | CLDN2 | 1.14 |
| 212 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.13 |
| 213 | Hypertension, essential | Enrichment | NOS3 | 1.13 |
| 214 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.12 |
| 215 | Ovarian cancer | Enrichment | AKT1, CTNNB1 | 1.12 |
| 216 | Isolated macular dystrophy | Enrichment | ITGA4 | 1.11 |
| 217 | Diffuse large b-cell lymphoma | Enrichment | FOXO1 | 1.09 |
| 218 | Cerebral palsy | Enrichment | PALS1 | 1.08 |
| 219 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11 | 1.08 |
| 220 | Patent foramen ovale | Enrichment | PTPN11 | 1.01 |
| 221 | Sensorineural hearing loss | Enrichment | CLDN14 | 1.00 |
| 222 | Williams-beuren syndrome | Enrichment | NCF1 | 0.96 |
| 223 | Familial hypertrophic cardiomyopathy | Enrichment | MYL3 | 0.96 |
| 224 | Tetralogy of fallot | Enrichment | KDR | 0.96 |
| 225 | Noonan syndrome 1 | Enrichment | PTPN11 | 0.91 |
| 226 | Malaria | Enrichment | ICAM1 | 0.91 |
| 227 | Long qt syndrome 1 | Enrichment | CALM1 | 0.90 |
| 228 | Scoliosis | Enrichment | PTPN11 | 0.89 |
| 229 | Deafness, autosomal recessive | Enrichment | CLDN14 | 0.88 |
| 230 | Autosomal recessive nonsyndromic deafness | Enrichment | CLDN14 | 0.88 |
| 231 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.87 |
| 232 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 0.86 |
| 233 | Rasopathy | Enrichment | PTPN11 | 0.86 |
| 234 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.85 |
| 235 | Strabismus | Enrichment | PTPN11 | 0.84 |
| 236 | West syndrome | Enrichment | PLCB1 | 0.84 |
| 237 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYLK | 0.84 |
| 238 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.79 |
| 239 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TJP2 | 0.77 |
| 240 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.76 |
| 241 | Inherited cancer-predisposing syndrome | Enrichment | CTNNA1, PTPN11 | 0.75 |
| 242 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | CLDN14 | 0.75 |
| 243 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.74 |
| 244 | Non-syndromic genetic deafness | Enrichment | RDX | 0.73 |
| 245 | Nonsyndromic hearing loss | Enrichment | RDX | 0.67 |
| 246 | Myeloma, multiple | Enrichment | PIK3R2 | 0.65 |
| 247 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.65 |
| 248 | Complex neurodevelopmental disorder | Enrichment | PALS1 | 0.62 |
| 249 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.56 |
| 250 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.55 |
| 251 | Breast cancer | Enrichment | AKT1 | 0.54 |
| 252 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.50 |
| 253 | Nervous system disease | Enrichment | CTNNB1 | 0.50 |
| 254 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.49 |
| 255 | Rare genetic deafness | Enrichment | RDX | 0.44 |
| 256 | Autism spectrum disorder | Enrichment | PTPN11 | 0.33 |
| 257 | Hereditary retinal dystrophy | Enrichment | CTNNA1, ITGA4 | 0.30 |
| 258 | Fundus dystrophy | Enrichment | CTNNA1, ITGA4 | 0.30 |