| 1 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | EGR2, MPZ, PMP22, PRX | 10.05 |
| 2 | Charcot-marie-tooth disease type 1 | Enrichment | EGR2, MPZ, PMP22 | 8.10 |
| 3 | Charcot-marie-tooth disease | Enrichment | LAMA2, MPZ, PMP22, PRX | 5.86 |
| 4 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | Enrichment | EGR2, MPZ | 5.39 |
| 5 | Roussy-levy hereditary areflexic dystasia | Enrichment | MPZ, PMP22 | 5.39 |
| 6 | Charcot-marie-tooth disease type 4 | Enrichment | EGR2, MPZ, PRX | 5.20 |
| 7 | Malignant epithelioid hemangioendothelioma | Enrichment | WWTR1, YAP1 | 4.61 |
| 8 | Peripheral nervous system disease | Enrichment | MPZ, PMP22, PRX | 4.43 |
| 9 | Neuropathy | Enrichment | MPZ, PMP22, PRX | 4.43 |
| 10 | Creatine phosphokinase, elevated serum | Enrichment | DAG1, LAMA2 | 3.31 |
| 11 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1, LAMA2 | 3.31 |
| 12 | Charcot-marie-tooth disease and deafness | Enrichment | PMP22 | 2.69 |
| 13 | Guillain-barre syndrome, familial | Enrichment | PMP22 | 2.69 |
| 14 | Charcot-marie-tooth disease, demyelinating, type 1d | Enrichment | EGR2 | 2.69 |
| 15 | Charcot-marie-tooth disease, axonal, type 2j | Enrichment | MPZ | 2.69 |
| 16 | Neuropathy, hereditary, with liability to pressure palsies | Enrichment | PMP22 | 2.69 |
| 17 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.69 |
| 18 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.69 |
| 19 | Lissencephaly 5 | Enrichment | LAMB1 | 2.69 |
| 20 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.69 |
| 21 | Febrile seizures, familial, 4 | Enrichment | ADGRV1 | 2.69 |
| 22 | Charcot-marie-tooth disease, dominant intermediate d | Enrichment | MPZ | 2.69 |
| 23 | Charcot-marie-tooth disease, axonal, type 2i | Enrichment | MPZ | 2.69 |
| 24 | Deafness, autosomal dominant 79 | Enrichment | SCD5 | 2.69 |
| 25 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.69 |
| 26 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.69 |
| 27 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.69 |
| 28 | Lethal congenital contracture syndrome 9 | Enrichment | ADGRG6 | 2.69 |
| 29 | Spastic paraplegia 75, autosomal recessive | Enrichment | MAG | 2.69 |
| 30 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | Enrichment | CYP51A1 | 2.69 |
| 31 | Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain | Enrichment | MPZ | 2.69 |
| 32 | Low density lipoprotein cholesterol level quantitative trait locus 3 | Enrichment | HMGCR | 2.69 |
| 33 | Charcot-marie-tooth disease type 2i | Enrichment | MPZ | 2.69 |
| 34 | Muscular dystrophy, limb-girdle, autosomal recessive 28 | Enrichment | HMGCR | 2.69 |
| 35 | Charcot-marie-tooth disease type 1d | Enrichment | EGR2 | 2.69 |
| 36 | Charcot-marie-tooth disease type 2j | Enrichment | MPZ | 2.69 |
| 37 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.69 |
| 38 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 2.69 |
| 39 | Charcot-marie-tooth disease, demyelinating, type 1a | Enrichment | PMP22 | 2.38 |
| 40 | Charcot-marie-tooth disease, demyelinating, type 1b | Enrichment | MPZ | 2.38 |
| 41 | Sveinsson chorioretinal atrophy | Enrichment | TEAD1 | 2.38 |
| 42 | Hemangiopericytoma, malignant | Enrichment | NAB2 | 2.38 |
| 43 | Waardenburg syndrome, type 4c | Enrichment | SOX10 | 2.38 |
| 44 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 2.38 |
| 45 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | MPZ | 2.38 |
| 46 | Usher syndrome, type iic | Enrichment | ADGRV1 | 2.38 |
| 47 | Charcot-marie-tooth disease, demyelinating, type 4f | Enrichment | PRX | 2.38 |
| 48 | Lissencephaly 1 | Enrichment | LAMB1 | 2.38 |
| 49 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | MPZ | 2.38 |
| 50 | Charcot-marie-tooth disease type 1b | Enrichment | MPZ | 2.38 |
| 51 | Spinocerebellar ataxia 46 | Enrichment | PRX | 2.38 |
| 52 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 2.38 |
| 53 | Charcot-marie-tooth disease type 1a | Enrichment | PMP22 | 2.38 |
| 54 | Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease | Enrichment | SOX10 | 2.38 |
| 55 | Otosclerosis 12 | Enrichment | SMARCA4 | 2.38 |
| 56 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 2.38 |
| 57 | Charcot-marie-tooth disease type 4f | Enrichment | PRX | 2.38 |
| 58 | Waardenburg syndrome, type 2a | Enrichment | SOX10 | 2.21 |
| 59 | Gaucher disease, type ii | Enrichment | PRX | 2.21 |
| 60 | Muscular dystrophy, duchenne type | Enrichment | UTRN | 2.21 |
| 61 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 2.21 |
| 62 | Gaucher's disease | Enrichment | PRX | 2.21 |
| 63 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 2.21 |
| 64 | Pseudomyogenic hemangioendothelioma | Enrichment | WWTR1 | 2.08 |
| 65 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | MPZ | 1.99 |
| 66 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | SOX10 | 1.99 |
| 67 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 1.99 |
| 68 | Genetic motor neuron disease | Enrichment | MPZ | 1.99 |
| 69 | Sensory peripheral neuropathy | Enrichment | MPZ | 1.99 |
| 70 | Rare genetic deafness | Enrichment | ADGRV1, SOX10 | 1.94 |
| 71 | Waardenburg syndrome, type 4a | Enrichment | SOX10 | 1.91 |
| 72 | Waardenburg syndrome | Enrichment | SOX10 | 1.91 |
| 73 | Waardenburg syndrome, type 1 | Enrichment | SOX10 | 1.84 |
| 74 | Usher syndrome, type iia | Enrichment | ADGRV1 | 1.84 |
| 75 | Waardenburg syndrome, type 2e | Enrichment | SOX10 | 1.84 |
| 76 | Motor neuron disease | Enrichment | MPZ | 1.84 |
| 77 | Congenital muscular dystrophy | Enrichment | LAMA2 | 1.79 |
| 78 | Neuroblastoma | Enrichment | SMARCA4 | 1.79 |
| 79 | Ventricular septal defect | Enrichment | SMARCA4 | 1.73 |
| 80 | Limb-girdle muscular dystrophy | Enrichment | HMGCR | 1.73 |
| 81 | Epilepsy, idiopathic generalized | Enrichment | ADGRV1 | 1.65 |
| 82 | Usher syndrome type 2 | Enrichment | ADGRV1 | 1.65 |
| 83 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.65 |
| 84 | Interatrial communication | Enrichment | SMARCA4 | 1.65 |
| 85 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.58 |
| 86 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.58 |
| 87 | Multiple sclerosis | Enrichment | LAMB1 | 1.54 |
| 88 | Walker-warburg syndrome | Enrichment | DAG1 | 1.54 |
| 89 | Generalized epilepsy with febrile seizures plus | Enrichment | ADGRV1 | 1.54 |
| 90 | Coloboma of macula | Enrichment | YAP1 | 1.52 |
| 91 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 1.52 |
| 92 | Usher syndrome, type i | Enrichment | ADGRV1 | 1.52 |
| 93 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.52 |
| 94 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.46 |
| 95 | Kallmann syndrome | Enrichment | SOX10 | 1.33 |
| 96 | Ear malformation | Enrichment | ADGRV1 | 1.31 |
| 97 | Hirschsprung disease 1 | Enrichment | SOX10 | 1.23 |
| 98 | Usher syndrome | Enrichment | ADGRV1 | 1.18 |
| 99 | Cerebral palsy | Enrichment | SMARCA4 | 1.11 |
| 100 | Distal arthrogryposis | Enrichment | ADGRG6 | 1.08 |
| 101 | Myeloma, multiple | Enrichment | YAP1 | 0.96 |
| 102 | Deafness, autosomal recessive | Enrichment | ADGRV1 | 0.91 |
| 103 | Autosomal recessive nonsyndromic deafness | Enrichment | ADGRV1 | 0.91 |
| 104 | Dilated cardiomyopathy | Enrichment | LAMA2 | 0.82 |
| 105 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | ADGRV1 | 0.77 |
| 106 | Inherited cancer-predisposing syndrome | Enrichment | SMARCA4 | 0.62 |
| 107 | Retinitis pigmentosa | Enrichment | ADGRV1 | 0.45 |
| 108 | Hereditary retinal dystrophy | Enrichment | ADGRV1 | 0.34 |
| 109 | Fundus dystrophy | Enrichment | ADGRV1 | 0.34 |