| 1 | Charcot-marie-tooth disease | Enrichment | DNM2, FIG4, GDAP1, HSPB1, LITAF, LRSAM1, MFN2, MPZ, NDRG1, NEFL, PMP22, SBF2, SH3TC2 | 11.23 |
| 2 | Charcot-marie-tooth disease type 4 | Enrichment | EGR2, FGD4, FIG4, MPZ, MTMR2, NDRG1, SBF2, SH3TC2 | 10.79 |
| 3 | Peripheral nervous system disease | Enrichment | GDAP1, MFN2, MPZ, NEFL, PMP22, SH3TC2 | 10.35 |
| 4 | Neuropathy | Enrichment | GDAP1, MFN2, MPZ, NEFL, PMP22, SH3TC2 | 10.35 |
| 5 | Charcot-marie-tooth disease type 1 | Enrichment | EGR2, MPZ, PMP22 | 8.15 |
| 6 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | EGR2, MPZ, PMP22 | 7.15 |
| 7 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1, HSPB8, MPZ | 7.15 |
| 8 | Genetic motor neuron disease | Enrichment | MFN2, MPZ, SH3TC2 | 7.15 |
| 9 | Charcot-marie-tooth disease, demyelinating, type 1b | Enrichment | MPZ, SH3TC2 | 5.42 |
| 10 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | Enrichment | EGR2, MPZ | 5.42 |
| 11 | Roussy-levy hereditary areflexic dystasia | Enrichment | MPZ, PMP22 | 5.42 |
| 12 | Charcot-marie-tooth disease type 1b | Enrichment | MPZ, SH3TC2 | 5.42 |
| 13 | Axonal neuropathy | Enrichment | GDAP1, MFN2 | 5.42 |
| 14 | Sensory peripheral neuropathy | Enrichment | GDAP1, MPZ | 4.42 |
| 15 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | MFN2, NEFL | 3.19 |
| 16 | Auditory neuropathy | Enrichment | MFN2, NEFL | 2.92 |
| 17 | Charcot-marie-tooth disease and deafness | Enrichment | PMP22 | 2.70 |
| 18 | Charcot-marie-tooth disease, axonal, type 2a1 | Enrichment | KIF1B | 2.70 |
| 19 | Guillain-barre syndrome, familial | Enrichment | PMP22 | 2.70 |
| 20 | Charcot-marie-tooth disease, demyelinating, type 4c | Enrichment | SH3TC2 | 2.70 |
| 21 | Charcot-marie-tooth disease, demyelinating, type 1c | Enrichment | LITAF | 2.70 |
| 22 | Charcot-marie-tooth disease, demyelinating, type 1d | Enrichment | EGR2 | 2.70 |
| 23 | Polymicrogyria, bilateral temporooccipital | Enrichment | FIG4 | 2.70 |
| 24 | Charcot-marie-tooth disease, axonal, type 2j | Enrichment | MPZ | 2.70 |
| 25 | Neuropathy, hereditary, with liability to pressure palsies | Enrichment | PMP22 | 2.70 |
| 26 | Charcot-marie-tooth disease, axonal, type 2p | Enrichment | LRSAM1 | 2.70 |
| 27 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.70 |
| 28 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.70 |
| 29 | Charcot-marie-tooth disease, demyelinating, type 4h | Enrichment | FGD4 | 2.70 |
| 30 | Neuroblastoma 1 | Enrichment | KIF1B | 2.70 |
| 31 | Charcot-marie-tooth disease, axonal, type 2b | Enrichment | RAB7A | 2.70 |
| 32 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.70 |
| 33 | Charcot-marie-tooth disease type 2b | Enrichment | RAB7A | 2.70 |
| 34 | Charcot-marie-tooth disease type 4b1 | Enrichment | MTMR2 | 2.70 |
| 35 | Charcot-marie-tooth disease, demyelinating, type 4b1 | Enrichment | MTMR2 | 2.70 |
| 36 | Charcot-marie-tooth disease type 4c | Enrichment | SH3TC2 | 2.70 |
| 37 | Amyotrophic lateral sclerosis 11 | Enrichment | FIG4 | 2.70 |
| 38 | Charcot-marie-tooth disease type 4h | Enrichment | FGD4 | 2.70 |
| 39 | Charcot-marie-tooth disease, axonal, type 2l | Enrichment | HSPB8 | 2.70 |
| 40 | Multiple symmetric lipomatosis | Enrichment | MFN2 | 2.70 |
| 41 | Charcot-marie-tooth disease, demyelinating, type 4j | Enrichment | FIG4 | 2.70 |
| 42 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | Enrichment | RAB11B | 2.70 |
| 43 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.70 |
| 44 | Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a | Enrichment | MFN2 | 2.70 |
| 45 | Charcot-marie-tooth disease, dominant intermediate d | Enrichment | MPZ | 2.70 |
| 46 | Charcot-marie-tooth disease, axonal, type 2i | Enrichment | MPZ | 2.70 |
| 47 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.70 |
| 48 | Charcot-marie-tooth disease type 2a1 | Enrichment | KIF1B | 2.70 |
| 49 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.70 |
| 50 | Myopathy, myofibrillar, 13, with rimmed vacuoles | Enrichment | HSPB8 | 2.70 |
| 51 | Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b | Enrichment | MFN2 | 2.70 |
| 52 | Charcot-marie-tooth disease type 4j | Enrichment | FIG4 | 2.70 |
| 53 | Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain | Enrichment | MPZ | 2.70 |
| 54 | Charcot-marie-tooth disease type 2i | Enrichment | MPZ | 2.70 |
| 55 | Charcot-marie-tooth disease type 1c | Enrichment | LITAF | 2.70 |
| 56 | Charcot-marie-tooth disease type 5 | Enrichment | MFN2 | 2.70 |
| 57 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.70 |
| 58 | Charcot-marie-tooth disease type 1d | Enrichment | EGR2 | 2.70 |
| 59 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.70 |
| 60 | Charcot-marie-tooth disease type 2a2b | Enrichment | MFN2 | 2.70 |
| 61 | Charcot-marie-tooth disease type 2j | Enrichment | MPZ | 2.70 |
| 62 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | Enrichment | HSPB8 | 2.70 |
| 63 | Charcot-marie-tooth disease, demyelinating, type 1a | Enrichment | PMP22 | 2.40 |
| 64 | Charcot-marie-tooth disease, demyelinating, type 4a | Enrichment | GDAP1 | 2.40 |
| 65 | Yunis-varon syndrome | Enrichment | FIG4 | 2.40 |
| 66 | Charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive | Enrichment | GDAP1 | 2.40 |
| 67 | Charcot-marie-tooth disease, recessive intermediate a | Enrichment | GDAP1 | 2.40 |
| 68 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | MPZ | 2.40 |
| 69 | Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy | Enrichment | MFN2 | 2.40 |
| 70 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 2.40 |
| 71 | Mononeuropathy of the median nerve, mild | Enrichment | SH3TC2 | 2.40 |
| 72 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 2.40 |
| 73 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | MPZ | 2.40 |
| 74 | Charcot-marie-tooth disease type 1a | Enrichment | PMP22 | 2.40 |
| 75 | Charcot-marie-tooth disease, axonal, type 2h | Enrichment | GDAP1 | 2.40 |
| 76 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 2.40 |
| 77 | Charcot-marie-tooth disease type 4a | Enrichment | GDAP1 | 2.40 |
| 78 | Multiple system atrophy, cerebellar type | Enrichment | MFN2 | 2.40 |
| 79 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 2.22 |
| 80 | Neuropathy, hereditary motor and sensory, type via, with optic atrophy | Enrichment | MFN2 | 2.22 |
| 81 | Charcot-marie-tooth disease, axonal, type 2k | Enrichment | GDAP1 | 2.22 |
| 82 | Distal myopathy | Enrichment | HSPB8 | 2.22 |
| 83 | Hyperpigmentation of the skin | Enrichment | MFN2 | 2.22 |
| 84 | Charcot-marie-tooth disease, demyelinating, type 4b2 | Enrichment | SBF2 | 2.10 |
| 85 | Myopathy, autophagic vacuolar, infantile-onset | Enrichment | HSPB8 | 2.10 |
| 86 | Charcot-marie-tooth disease type 4b2 | Enrichment | SBF2 | 2.10 |
| 87 | Multiple endocrine neoplasia, type iia | Enrichment | KIF1B | 2.00 |
| 88 | Pseudovaginal perineoscrotal hypospadias | Enrichment | FIG4 | 2.00 |
| 89 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 2.00 |
| 90 | Polyneuropathy | Enrichment | GDAP1 | 2.00 |
| 91 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.92 |
| 92 | Motor neuron disease | Enrichment | MPZ | 1.86 |
| 93 | Neuroblastoma | Enrichment | KIF1B | 1.80 |
| 94 | Creatine phosphokinase, elevated serum | Enrichment | GDAP1 | 1.50 |
| 95 | Isolated elevated serum creatine phosphokinase levels | Enrichment | GDAP1 | 1.50 |
| 96 | Isolated congenital microcephaly | Enrichment | RAB11A | 1.50 |
| 97 | Beckwith-wiedemann syndrome | Enrichment | MFN2 | 1.45 |
| 98 | Centronuclear myopathy | Enrichment | DNM2 | 1.39 |
| 99 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | KIF1B | 1.39 |
| 100 | Cerebral palsy | Enrichment | MFN2 | 1.13 |
| 101 | Myopathy | Enrichment | DNM2 | 1.12 |
| 102 | Hereditary spastic paraplegia | Enrichment | SH3TC2 | 1.09 |
| 103 | Sensorineural hearing loss | Enrichment | NEFL | 1.04 |
| 104 | Autosomal dominant non-syndromic intellectual disability | Enrichment | RAB11A | 1.02 |
| 105 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | FIG4 | 0.96 |
| 106 | Ovarian cancer | Enrichment | KIF1B | 0.74 |
| 107 | Microcephaly | Enrichment | MFN2 | 0.66 |