| 1 | Focal segmental glomerulosclerosis | Enrichment | APOL1, COL4A4, COL4A5, COQ2, INF2, NPHS1, NPHS2, PAX2, PLCE1, PMM2, SMARCAL1, TRPC6, WT1 | 16.00 |
| 2 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COQ8B, EMP2, INF2, MYO1E, NPHS1, NPHS2, PAX2, PLCE1, PTPRO, TRPC6, WT1 | 16.00 |
| 3 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, COQ2, COQ8B, INF2, ITGA3, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, PAX2, PDSS2, PLCE1, SMARCAL1, SYNPO, TRPC6, TTC21B, WDR73 | 11.28 |
| 4 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, INF2, LAMB2, NPHS1, WT1 | 11.24 |
| 5 | Nephrotic syndrome, type 1 | Enrichment | ALG1, NPHS1, NPHS2, PLCE1, TTC21B | 10.21 |
| 6 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 7.38 |
| 7 | Chronic kidney disease | Enrichment | COL4A4, COL4A5, CUBN, NPHS2 | 7.02 |
| 8 | Hypertension | Enrichment | COL4A4, COL4A5, INF2, MYH9 | 6.61 |
| 9 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 6.38 |
| 10 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.38 |
| 11 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 6.38 |
| 12 | Glomerulonephritis | Enrichment | APOL1, COL4A4 | 4.91 |
| 13 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 4.44 |
| 14 | Restrictive dermopathy 1 | Enrichment | LMNA, ZMPSTE24 | 4.44 |
| 15 | Restrictive dermopathy | Enrichment | LMNA, ZMPSTE24 | 4.44 |
| 16 | Hutchinson-gilford progeria syndrome | Enrichment | LMNA, ZMPSTE24 | 4.14 |
| 17 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 4.14 |
| 18 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 4.14 |
| 19 | Developmental and epileptic encephalopathy 36 | Enrichment | ALG1, PMM2 | 3.74 |
| 20 | Myoclonic epilepsy associated with ragged-red fibers | Enrichment | MT-TI, MT-TL1 | 3.10 |
| 21 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5, SMARCAL1 | 2.90 |
| 22 | Congenital disorder of glycosylation, type in | Enrichment | ALG1, PMM2 | 2.79 |
| 23 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA, MT-TI | 2.49 |
| 24 | Muscular dystrophy | Enrichment | LMNA, PMM2 | 2.49 |
| 25 | Focal segmental glomerulosclerosis 10 | Enrichment | LMX1B | 2.45 |
| 26 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 2.45 |
| 27 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.45 |
| 28 | Charcot-marie-tooth disease, axonal, mitochondrial | Enrichment | MT-TL1 | 2.45 |
| 29 | Cyclic vomiting syndrome | Enrichment | MT-TL1 | 2.45 |
| 30 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.45 |
| 31 | Celiac disease 3 | Enrichment | CTLA4 | 2.45 |
| 32 | Raph blood group system | Enrichment | CD151 | 2.45 |
| 33 | Focal segmental glomerulosclerosis 4 | Enrichment | APOL1 | 2.45 |
| 34 | Nail-patella syndrome | Enrichment | LMX1B | 2.45 |
| 35 | Charcot-marie-tooth disease, dominant intermediate c | Enrichment | YARS1 | 2.45 |
| 36 | Focal segmental glomerulosclerosis 2 | Enrichment | TRPC6 | 2.45 |
| 37 | Charcot-marie-tooth disease, dominant intermediate e | Enrichment | INF2 | 2.45 |
| 38 | Schimke immunoosseous dysplasia | Enrichment | SMARCAL1 | 2.45 |
| 39 | Nephrotic syndrome, type 10 | Enrichment | EMP2 | 2.45 |
| 40 | Focal segmental glomerulosclerosis 8 | Enrichment | ANLN | 2.45 |
| 41 | Nephrotic syndrome, type 8 | Enrichment | ARHGDIA | 2.45 |
| 42 | Congenital disorder of glycosylation, type ia | Enrichment | PMM2 | 2.45 |
| 43 | Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial | Enrichment | MT-TI | 2.45 |
| 44 | Type 1 diabetes mellitus 12 | Enrichment | CTLA4 | 2.45 |
| 45 | Nephrotic syndrome, type 9 | Enrichment | COQ8B | 2.45 |
| 46 | Meacham syndrome | Enrichment | WT1 | 2.45 |
| 47 | Epidermolysis bullosa simplex 7, with nephropathy and deafness | Enrichment | CD151 | 2.45 |
| 48 | Focal segmental glomerulosclerosis 3 | Enrichment | CD2AP | 2.45 |
| 49 | Nephrotic syndrome, type 6 | Enrichment | PTPRO | 2.45 |
| 50 | Focal segmental glomerulosclerosis 5 | Enrichment | INF2 | 2.45 |
| 51 | Focal segmental glomerulosclerosis 6 | Enrichment | MYO1E | 2.45 |
| 52 | Coenzyme q10 deficiency, primary, 3 | Enrichment | PDSS2 | 2.45 |
| 53 | Atypical werner syndrome | Enrichment | LMNA | 2.45 |
| 54 | Mitochondrial dna-related mitochondrial myopathy | Enrichment | MT-TL1 | 2.45 |
| 55 | Lipoid nephrosis | Enrichment | LMX1B | 2.45 |
| 56 | Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation | Enrichment | MT-TL1 | 2.45 |
| 57 | Glucose intolerance | Enrichment | MT-TL1 | 2.45 |
| 58 | Mandibuloacral dysplasia | Enrichment | LMNA | 2.45 |
| 59 | Atrioventricular block | Enrichment | LMNA | 2.45 |
| 60 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.45 |
| 61 | X-linked alport syndrome | Enrichment | COL4A5 | 2.45 |
| 62 | Familial nephrotic syndrome | Enrichment | NPHS1 | 2.45 |
| 63 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 2.45 |
| 64 | Pax2-related disorder | Enrichment | PAX2 | 2.45 |
| 65 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 2.45 |
| 66 | Multiple system atrophy, parkinsonian type | Enrichment | COQ2 | 2.45 |
| 67 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 2.45 |
| 68 | Laminopathy | Enrichment | LMNA | 2.45 |
| 69 | Papillorenal syndrome | Enrichment | PAX2 | 2.15 |
| 70 | Hashimoto thyroiditis | Enrichment | CTLA4 | 2.15 |
| 71 | Multiple system atrophy 1 | Enrichment | COQ2 | 2.15 |
| 72 | Corticosterone methyloxidase type i deficiency | Enrichment | CYP11B2 | 2.15 |
| 73 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 2.15 |
| 74 | Denys-drash syndrome | Enrichment | WT1 | 2.15 |
| 75 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 2.15 |
| 76 | Nephrotic syndrome, type 2 | Enrichment | NPHS2 | 2.15 |
| 77 | Cataract 35 | Enrichment | MYH9 | 2.15 |
| 78 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 2.15 |
| 79 | Corticosterone methyloxidase type ii deficiency | Enrichment | CYP11B2 | 2.15 |
| 80 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 2.15 |
| 81 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 2.15 |
| 82 | Coenzyme q10 deficiency, primary, 6 | Enrichment | COQ6 | 2.15 |
| 83 | Frasier syndrome | Enrichment | WT1 | 2.15 |
| 84 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 2.15 |
| 85 | Specific language impairment 5 | Enrichment | COL4A4 | 2.15 |
| 86 | Pierson syndrome | Enrichment | LAMB2 | 2.15 |
| 87 | Nephronophthisis 12 | Enrichment | TTC21B | 2.15 |
| 88 | Short-rib thoracic dysplasia 4 with or without polydactyly | Enrichment | TTC21B | 2.15 |
| 89 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 2.15 |
| 90 | Restrictive dermopathy 2 | Enrichment | LMNA | 2.15 |
| 91 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 2.15 |
| 92 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 2.15 |
| 93 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 2.15 |
| 94 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.15 |
| 95 | Focal segmental glomerulosclerosis 7 | Enrichment | PAX2 | 2.15 |
| 96 | Mandibuloacral dysplasia with type b lipodystrophy | Enrichment | ZMPSTE24 | 2.15 |
| 97 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 2.15 |
| 98 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 2.15 |
| 99 | 9q33.3q34.11 microdeletion syndrome | Enrichment | LMX1B | 2.15 |
| 100 | Gitelman-like kidney tubulopathy due to mitochondrial dna mutation | Enrichment | MT-TI | 2.15 |
| 101 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 2.15 |
| 102 | Familial partial lipodystrophy | Enrichment | LMNA | 2.15 |
| 103 | Familial hypoaldosteronism | Enrichment | CYP11B2 | 2.15 |
| 104 | Renal hypoplasia, bilateral | Enrichment | PAX2 | 2.15 |
| 105 | Genetic nephrotic syndrome | Enrichment | NPHS2 | 2.15 |
| 106 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 2.15 |
| 107 | Idiopathic nephrotic syndrome | Enrichment | NPHS2 | 2.15 |
| 108 | Multiple system atrophy | Enrichment | COQ2 | 2.15 |
| 109 | Desmoplastic small round cell tumor | Enrichment | WT1 | 2.15 |
| 110 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5 | 2.15 |
| 111 | Early-onset familial hypoaldosteronism | Enrichment | CYP11B2 | 2.15 |
| 112 | Multiple system atrophy, cerebellar type | Enrichment | COQ2 | 2.15 |
| 113 | Leber hereditary optic neuropathy, modifier of | Enrichment | MT-TI, MT-TL1 | 2.12 |
| 114 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Enrichment | MT-TI, MT-TL1 | 2.10 |
| 115 | Cerebral palsy | Enrichment | MT-TL1, PMM2 | 2.08 |
| 116 | Macular degeneration, age-related, 2 | Enrichment | MT-TL1 | 1.98 |
| 117 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.98 |
| 118 | Mesothelioma, malignant | Enrichment | WT1 | 1.98 |
| 119 | Visceral steatosis, congenital | Enrichment | YARS1 | 1.98 |
| 120 | 3-methylglutaconic aciduria, type i | Enrichment | MT-TL1 | 1.98 |
| 121 | Mycosis fungoides | Enrichment | CTLA4 | 1.98 |
| 122 | Nephronophthisis 2 | Enrichment | TTC21B | 1.98 |
| 123 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.98 |
| 124 | Coenzyme q10 deficiency, primary, 1 | Enrichment | COQ2 | 1.98 |
| 125 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.98 |
| 126 | Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation | Enrichment | CTLA4 | 1.98 |
| 127 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.98 |
| 128 | Nephrotic syndrome, type 24 | Enrichment | NPHS2 | 1.98 |
| 129 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.98 |
| 130 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | Enrichment | YARS1 | 1.98 |
| 131 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.98 |
| 132 | Proteinuria, chronic benign | Enrichment | CUBN | 1.98 |
| 133 | Chronic progressive external ophthalmoplegia | Enrichment | MT-TI | 1.98 |
| 134 | Asparagine synthetase deficiency | Enrichment | CTLA4 | 1.98 |
| 135 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.98 |
| 136 | Atypical juvenile parkinsonism | Enrichment | PODXL | 1.98 |
| 137 | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Enrichment | CTLA4 | 1.98 |
| 138 | Adult-onset myasthenia gravis | Enrichment | CTLA4 | 1.98 |
| 139 | Age related macular degeneration | Enrichment | MT-TL1 | 1.98 |
| 140 | Steatotic liver disease | Enrichment | YARS1 | 1.98 |
| 141 | Saczary syndrome | Enrichment | CTLA4 | 1.98 |
| 142 | Aniridia 1 | Enrichment | WT1 | 1.85 |
| 143 | Gaucher disease, type i | Enrichment | SCARB2 | 1.85 |
| 144 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 1.85 |
| 145 | Epilepsy, progressive myoclonic, 4, with or without renal failure | Enrichment | SCARB2 | 1.85 |
| 146 | Microtia-anotia | Enrichment | LMNA | 1.85 |
| 147 | Congenital disorder of glycosylation, type ik | Enrichment | ALG1 | 1.85 |
| 148 | Diabetes and deafness, maternally inherited | Enrichment | MT-TL1 | 1.85 |
| 149 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 1.85 |
| 150 | Developmental and epileptic encephalopathy 4 | Enrichment | LMX1B | 1.85 |
| 151 | Immunodeficiency, common variable, 1 | Enrichment | CTLA4 | 1.85 |
| 152 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 1.85 |
| 153 | Cerebrovascular disease | Enrichment | MT-TL1 | 1.85 |
| 154 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | YARS1 | 1.85 |
| 155 | Sick sinus syndrome | Enrichment | LMNA | 1.85 |
| 156 | Full schwannomatosis | Enrichment | COQ6 | 1.85 |
| 157 | Mitochondrial dna-related progressive external ophthalmoplegia | Enrichment | MT-TL1 | 1.85 |
| 158 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 1.76 |
| 159 | Galloway-mowat syndrome 1 | Enrichment | WDR73 | 1.76 |
| 160 | Kearns-sayre syndrome | Enrichment | MT-TL1 | 1.76 |
| 161 | Parkinson disease 2, autosomal recessive juvenile | Enrichment | PODXL | 1.76 |
| 162 | Atrioventricular septal defect | Enrichment | SMARCAL1 | 1.76 |
| 163 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.76 |
| 164 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.76 |
| 165 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 1.76 |
| 166 | Histiocytoid hemangioma | Enrichment | LMNA | 1.76 |
| 167 | Parkin type of early-onset parkinson disease | Enrichment | PODXL | 1.76 |
| 168 | Aplasia cutis congenita | Enrichment | ITGB4 | 1.76 |
| 169 | Primary ovarian insufficiency | Enrichment | PMM2, WT1 | 1.73 |
| 170 | Hyperaldosteronism, familial, type i | Enrichment | CYP11B2 | 1.68 |
| 171 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 1.68 |
| 172 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4 | 1.68 |
| 173 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.68 |
| 174 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGB4 | 1.68 |
| 175 | Wilms tumor 5 | Enrichment | WT1 | 1.68 |
| 176 | Hemangioma, capillary infantile | Enrichment | MYH9 | 1.68 |
| 177 | Deafness, nonsyndromic sensorineural, mitochondrial | Enrichment | MT-TI | 1.68 |
| 178 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | PAX2 | 1.68 |
| 179 | Granulomatosis with polyangiitis | Enrichment | CTLA4 | 1.68 |
| 180 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4 | 1.68 |
| 181 | Renal hypoplasia | Enrichment | PAX2 | 1.68 |
| 182 | Megaloblastic anemia | Enrichment | CUBN | 1.68 |
| 183 | Bethlem myopathy 1a | Enrichment | LMNA | 1.61 |
| 184 | Imerslund-grasbeck syndrome 1 | Enrichment | CUBN | 1.61 |
| 185 | Retinal degeneration | Enrichment | YARS1 | 1.61 |
| 186 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 1.61 |
| 187 | Leigh syndrome, nuclear | Enrichment | MT-TI, MT-TL1 | 1.61 |
| 188 | Short-rib thoracic dysplasia 12 | Enrichment | TTC21B | 1.55 |
| 189 | Congenital muscular dystrophy | Enrichment | LMNA | 1.55 |
| 190 | Myocarditis | Enrichment | LMNA | 1.55 |
| 191 | Difference of sex development | Enrichment | WT1 | 1.55 |
| 192 | Infantile nephronophthisis | Enrichment | TTC21B | 1.55 |
| 193 | Leigh disease | Enrichment | MT-TI, MT-TL1 | 1.53 |
| 194 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 1.50 |
| 195 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.50 |
| 196 | Cystic kidney disease | Enrichment | PAX2 | 1.50 |
| 197 | Junctional epidermolysis bullosa | Enrichment | ITGB4 | 1.50 |
| 198 | Rare genetic deafness | Enrichment | COL4A5, MYH9 | 1.50 |
| 199 | Dilated cardiomyopathy | Enrichment | LMNA, MT-TI | 1.49 |
| 200 | Galloway-mowat syndrome | Enrichment | WDR73 | 1.46 |
| 201 | Mitochondrial encephalomyopathy | Enrichment | MT-TL1 | 1.46 |
| 202 | Progressive myoclonus epilepsy | Enrichment | SCARB2 | 1.46 |
| 203 | Rare mitochondrial non-syndromic sensorineural deafness | Enrichment | MT-TI | 1.46 |
| 204 | Mitochondrial disease | Enrichment | MT-TI, MT-TL1 | 1.42 |
| 205 | Leigh syndrome, mitochondrial | Enrichment | MT-TL1 | 1.42 |
| 206 | Myelodysplastic syndrome | Enrichment | MT-TL1 | 1.42 |
| 207 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.42 |
| 208 | Diabetes mellitus | Enrichment | PMM2 | 1.42 |
| 209 | Cardiac conduction defect | Enrichment | LMNA | 1.38 |
| 210 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 1.38 |
| 211 | Short-rib thoracic dysplasia 6 with or without polydactyly | Enrichment | TTC21B | 1.38 |
| 212 | Early-onset parkinson's disease | Enrichment | PODXL | 1.38 |
| 213 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 1.38 |
| 214 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 1.38 |
| 215 | Leber plus disease | Enrichment | MT-TI, MT-TL1 | 1.35 |
| 216 | Microphthalmia/coloboma 12 | Enrichment | PAX2 | 1.35 |
| 217 | Senior-loken syndrome 1 | Enrichment | TTC21B | 1.35 |
| 218 | Multiple sclerosis | Enrichment | ITGB4 | 1.31 |
| 219 | Myoclonic epilepsy of unverricht and lundborg | Enrichment | SCARB2 | 1.31 |
| 220 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 1.31 |
| 221 | 46,xy partial gonadal dysgenesis | Enrichment | WT1 | 1.31 |
| 222 | Isolated macular dystrophy | Enrichment | COL4A5 | 1.31 |
| 223 | Coloboma of macula | Enrichment | PAX2 | 1.29 |
| 224 | Wilms tumor 1 | Enrichment | WT1 | 1.29 |
| 225 | Myopia | Enrichment | COL4A4 | 1.29 |
| 226 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | PMM2 | 1.26 |
| 227 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 1.26 |
| 228 | Isolated congenital microcephaly | Enrichment | SMARCAL1 | 1.26 |
| 229 | Sudden infant death syndrome | Enrichment | MT-TL1 | 1.23 |
| 230 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 1.23 |
| 231 | Neuromuscular disease | Enrichment | LMNA | 1.21 |
| 232 | Polycystic kidney disease | Enrichment | COL4A4 | 1.21 |
| 233 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA | 1.19 |
| 234 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 1.14 |
| 235 | Mitochondrial complex iv deficiency, nuclear type 1 | Enrichment | MT-TL1 | 1.12 |
| 236 | Skin disease | Enrichment | ITGB4 | 1.12 |
| 237 | Jeune thoracic dystrophy | Enrichment | TTC21B | 1.07 |
| 238 | Mitochondrial complex v deficiency, mitochondrial type 1 | Enrichment | MT-TI | 1.05 |
| 239 | Neuropathy, ataxia, and retinitis pigmentosa | Enrichment | MT-TI | 1.05 |
| 240 | Striatonigral degeneration, infantile, mitochondrial | Enrichment | MT-TI | 1.05 |
| 241 | Brugada syndrome | Enrichment | LMNA | 1.05 |
| 242 | Auditory neuropathy | Enrichment | MT-TL1 | 1.05 |
| 243 | Camptodactyly of fingers | Enrichment | MT-TI | 1.05 |
| 244 | Asphyxiating thoracic dystrophy | Enrichment | TTC21B | 1.02 |
| 245 | Long qt syndrome | Enrichment | LMNA | 0.98 |
| 246 | Connective tissue disease | Enrichment | TTC21B | 0.97 |
| 247 | Peripheral nervous system disease | Enrichment | LMNA | 0.97 |
| 248 | Neuropathy | Enrichment | LMNA | 0.97 |
| 249 | Short-rib thoracic dysplasia 1 with or without polydactyly | Enrichment | TTC21B | 0.96 |
| 250 | Familial hypertrophic cardiomyopathy | Enrichment | MT-TI | 0.96 |
| 251 | Nephronophthisis | Enrichment | TTC21B | 0.96 |
| 252 | Cakut | Enrichment | PAX2 | 0.94 |
| 253 | Left ventricular noncompaction | Enrichment | LMNA | 0.93 |
| 254 | Dystonia | Enrichment | WDR73 | 0.93 |
| 255 | Systemic lupus erythematosus | Enrichment | CTLA4 | 0.89 |
| 256 | Epilepsy | Enrichment | TTC21B | 0.88 |
| 257 | Charcot-marie-tooth disease | Enrichment | LMNA | 0.87 |
| 258 | Benign epilepsy with centrotemporal spikes | Enrichment | SCARB2 | 0.87 |
| 259 | Centralopathic epilepsy | Enrichment | SCARB2 | 0.85 |
| 260 | Sensorineural hearing loss | Enrichment | MT-TL1 | 0.80 |
| 261 | Thrombocytopenia | Enrichment | MYH9 | 0.80 |
| 262 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.79 |
| 263 | Hypertelorism | Enrichment | MT-TI | 0.77 |
| 264 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MYH9 | 0.77 |
| 265 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA | 0.77 |
| 266 | Retinitis pigmentosa | Enrichment | COQ8B, MT-TI | 0.76 |
| 267 | Deafness, autosomal recessive | Enrichment | MYH9 | 0.70 |
| 268 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9 | 0.69 |
| 269 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MYH9 | 0.57 |
| 270 | Hereditary retinal dystrophy | Enrichment | PAX2, TTC21B | 0.56 |
| 271 | Fundus dystrophy | Enrichment | PAX2, TTC21B | 0.56 |
| 272 | Ovarian cancer | Enrichment | WT1 | 0.52 |
| 273 | Congenital nervous system abnormality | Enrichment | WDR73 | 0.50 |
| 274 | Nervous system disease | Enrichment | WDR73 | 0.50 |
| 275 | Autism spectrum disorder | Enrichment | CUBN | 0.49 |
| 276 | Microcephaly | Enrichment | SMARCAL1 | 0.45 |
| 277 | Inherited cancer-predisposing syndrome | Enrichment | WT1 | 0.43 |