EGR2 and SOX10-mediated initiation of Schwann cell myelination

No Pathway Network information available for EGR2 and SOX10-mediated initiation of Schwann cell myelination

Pathways in the EGR2 and SOX10-mediated initiation of Schwann cell myelination SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with EGR2 and SOX10-mediated initiation of Schwann cell myelination SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Hypertrophic neuropathy of dejerine-sottasEnrichmentEGR2, MPZ, PMP22, PRX10.05
2Charcot-marie-tooth disease type 1EnrichmentEGR2, MPZ, PMP228.10
3Charcot-marie-tooth diseaseEnrichmentLAMA2, MPZ, PMP22, PRX5.86
4Neuropathy, congenital hypomyelinating, 1, autosomal recessiveEnrichmentEGR2, MPZ5.39
5Roussy-levy hereditary areflexic dystasiaEnrichmentMPZ, PMP225.39
6Charcot-marie-tooth disease type 4EnrichmentEGR2, MPZ, PRX5.20
7Malignant epithelioid hemangioendotheliomaEnrichmentWWTR1, YAP14.61
8Peripheral nervous system diseaseEnrichmentMPZ, PMP22, PRX4.43
9NeuropathyEnrichmentMPZ, PMP22, PRX4.43
10Creatine phosphokinase, elevated serumEnrichmentDAG1, LAMA23.31
11Isolated elevated serum creatine phosphokinase levelsEnrichmentDAG1, LAMA23.31
12Charcot-marie-tooth disease and deafnessEnrichmentPMP222.69
13Guillain-barre syndrome, familialEnrichmentPMP222.69
14Charcot-marie-tooth disease, demyelinating, type 1dEnrichmentEGR22.69
15Charcot-marie-tooth disease, axonal, type 2jEnrichmentMPZ2.69
16Neuropathy, hereditary, with liability to pressure palsiesEnrichmentPMP222.69
17Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.69
18Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG12.69
19Lissencephaly 5EnrichmentLAMB12.69
20Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.69
21Febrile seizures, familial, 4EnrichmentADGRV12.69
22Charcot-marie-tooth disease, dominant intermediate dEnrichmentMPZ2.69
23Charcot-marie-tooth disease, axonal, type 2iEnrichmentMPZ2.69
24Deafness, autosomal dominant 79EnrichmentSCD52.69
25Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG12.69
26Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.69
27Ovarian small cell carcinomaEnrichmentSMARCA42.69
28Lethal congenital contracture syndrome 9EnrichmentADGRG62.69
29Spastic paraplegia 75, autosomal recessiveEnrichmentMAG2.69
30Congenital cataract-severe neonatal hepatopathy-global developmental delay syndromeEnrichmentCYP51A12.69
31Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic painEnrichmentMPZ2.69
32Low density lipoprotein cholesterol level quantitative trait locus 3EnrichmentHMGCR2.69
33Charcot-marie-tooth disease type 2iEnrichmentMPZ2.69
34Muscular dystrophy, limb-girdle, autosomal recessive 28EnrichmentHMGCR2.69
35Charcot-marie-tooth disease type 1dEnrichmentEGR22.69
36Charcot-marie-tooth disease type 2jEnrichmentMPZ2.69
37Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG12.69
38Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA22.69
39Charcot-marie-tooth disease, demyelinating, type 1aEnrichmentPMP222.38
40Charcot-marie-tooth disease, demyelinating, type 1bEnrichmentMPZ2.38
41Sveinsson chorioretinal atrophyEnrichmentTEAD12.38
42Hemangiopericytoma, malignantEnrichmentNAB22.38
43Waardenburg syndrome, type 4cEnrichmentSOX102.38
44Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA42.38
45Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathyEnrichmentMPZ2.38
46Usher syndrome, type iicEnrichmentADGRV12.38
47Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPRX2.38
48Lissencephaly 1EnrichmentLAMB12.38
49Neuropathy, congenital hypomyelinating, 2EnrichmentMPZ2.38
50Charcot-marie-tooth disease type 1bEnrichmentMPZ2.38
51Spinocerebellar ataxia 46EnrichmentPRX2.38
52Rhabdoid tumor predisposition syndromeEnrichmentSMARCA42.38
53Charcot-marie-tooth disease type 1aEnrichmentPMP222.38
54Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentSOX102.38
55Otosclerosis 12EnrichmentSMARCA42.38
56Coffin-siris syndrome 4EnrichmentSMARCA42.38
57Charcot-marie-tooth disease type 4fEnrichmentPRX2.38
58Waardenburg syndrome, type 2aEnrichmentSOX102.21
59Gaucher disease, type iiEnrichmentPRX2.21
60Muscular dystrophy, duchenne typeEnrichmentUTRN2.21
61Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA22.21
62Gaucher's diseaseEnrichmentPRX2.21
63Lama2-related muscular dystrophyEnrichmentLAMA22.21
64Pseudomyogenic hemangioendotheliomaEnrichmentWWTR12.08
65Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentMPZ1.99
66Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentSOX101.99
67Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA21.99
68Genetic motor neuron diseaseEnrichmentMPZ1.99
69Sensory peripheral neuropathyEnrichmentMPZ1.99
70Rare genetic deafnessEnrichmentADGRV1, SOX101.94
71Waardenburg syndrome, type 4aEnrichmentSOX101.91
72Waardenburg syndromeEnrichmentSOX101.91
73Waardenburg syndrome, type 1EnrichmentSOX101.84
74Usher syndrome, type iiaEnrichmentADGRV11.84
75Waardenburg syndrome, type 2eEnrichmentSOX101.84
76Motor neuron diseaseEnrichmentMPZ1.84
77Congenital muscular dystrophyEnrichmentLAMA21.79
78NeuroblastomaEnrichmentSMARCA41.79
79Ventricular septal defectEnrichmentSMARCA41.73
80Limb-girdle muscular dystrophyEnrichmentHMGCR1.73
81Epilepsy, idiopathic generalizedEnrichmentADGRV11.65
82Usher syndrome type 2EnrichmentADGRV11.65
83Atrial heart septal defectEnrichmentSMARCA41.65
84Interatrial communicationEnrichmentSMARCA41.65
85Microphthalmia/coloboma 12EnrichmentYAP11.58
86Hypercholesterolemia, familial, 1EnrichmentSMARCA41.58
87Multiple sclerosisEnrichmentLAMB11.54
88Walker-warburg syndromeEnrichmentDAG11.54
89Generalized epilepsy with febrile seizures plusEnrichmentADGRV11.54
90Coloboma of maculaEnrichmentYAP11.52
91Coffin-siris syndrome 1EnrichmentSMARCA41.52
92Usher syndrome, type iEnrichmentADGRV11.52
93Familial hypercholesterolemiaEnrichmentSMARCA41.52
94Cleft palate, isolatedEnrichmentSMARCA41.46
95Kallmann syndromeEnrichmentSOX101.33
96Ear malformationEnrichmentADGRV11.31
97Hirschsprung disease 1EnrichmentSOX101.23
98Usher syndromeEnrichmentADGRV11.18
99Cerebral palsyEnrichmentSMARCA41.11
100Distal arthrogryposisEnrichmentADGRG61.08
101Myeloma, multipleEnrichmentYAP10.96
102Deafness, autosomal recessiveEnrichmentADGRV10.91
103Autosomal recessive nonsyndromic deafnessEnrichmentADGRV10.91
104Dilated cardiomyopathyEnrichmentLAMA20.82
105Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADGRV10.77
106Inherited cancer-predisposing syndromeEnrichmentSMARCA40.62
107Retinitis pigmentosaEnrichmentADGRV10.45
108Hereditary retinal dystrophyEnrichmentADGRV10.34
109Fundus dystrophyEnrichmentADGRV10.34

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