MECP2 and associated Rett syndrome

No Pathway Network information available for MECP2 and associated Rett syndrome

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

Disorders associated with MECP2 and associated Rett syndrome SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Autism spectrum disorderEnrichmentGRIA1, MECP2, MEF2C, NF1, PTEN, SMC34.59
2Myeloma, multipleEnrichmentNF1, SGK1, TET2, TET33.64
3Insulin-like growth factor iEnrichmentIGF1, IGF1R3.55
4HemimegalencephalyEnrichmentMTOR, PTEN3.55
5Angelman syndromeEnrichmentMECP2, UBE3A3.37
6Rett syndromeEnrichmentFOXG1, MECP23.23
7Rett syndrome, congenital variantEnrichmentFOXG1, MECP23.11
8Isolated split hand-split foot malformationEnrichmentDLX5, DLX63.11
9Cowden syndromeEnrichmentAKT1, PTEN3.00
10Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentFUS, TARDBP2.90
11MeningiomaEnrichmentAKT1, PTEN2.74
12Stereotypic movement disorderEnrichmentFOXG1, MECP22.67
13Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, GRIA1, GRIN12.61
14Congenital nervous system abnormalityEnrichmentFOXG1, GAMT, MECP2, PTEN2.60
15Nervous system diseaseEnrichmentFOXG1, GAMT, MECP2, PTEN2.60
16Wilms tumor 1EnrichmentIGF2, REST2.54
17RhabdomyosarcomaEnrichmentNF1, PTEN2.49
18Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFUS, MEF2C, TARDBP2.43
19Proteus syndromeEnrichmentAKT12.27
20Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessiveEnrichmentDLX52.27
21Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF12.27
22Vacterl association with hydrocephalusEnrichmentPTEN2.27
23Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC32.27
24Dystonia 3, torsion, x-linkedEnrichmentTAF12.27
25Facial hypertrichosisEnrichmentMECP22.27
26Tremor, hereditary essential, 4EnrichmentFUS2.27
27Wilms tumor 6EnrichmentREST2.27
28Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP22.27
29Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.27
30Autism x-linked 3EnrichmentMECP22.27
31Intellectual developmental disorder, x-linked, syndromic, wu typeEnrichmentGRIA32.27
32Leukodystrophy, hypomyelinating, 20EnrichmentCNP2.27
33Developmental and epileptic encephalopathy 89EnrichmentGAD12.27
34Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.27
35Papillary tumor of the pineal regionEnrichmentPTEN2.27
36Familial isolated trichomegalyEnrichmentFGF52.27
37Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN12.27
38Deafness, autosomal dominant 27EnrichmentREST2.27
39Holoprosencephaly 11EnrichmentCDON2.27
40Cowden syndrome 6EnrichmentAKT12.27
41Syndromic x-linked intellectual disability lubs typeEnrichmentMECP22.27
42Developmental and epileptic encephalopathy 101EnrichmentGRIN12.27
43Glioma susceptibility 2EnrichmentPTEN2.27
44Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN12.27
45Fibromatosis, gingival, 5EnrichmentREST2.27
46Tet3-related beck-fahrner syndromeEnrichmentTET32.27
47Neurodevelopmental disorder with or without seizures and gait abnormalitiesEnrichmentGRIA42.27
48Ctcf-related disorderEnrichmentCTCF2.27
49Spastic paraplegia 75, autosomal recessiveEnrichmentMAG2.27
50Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA12.27
51Beck-fahrner syndromeEnrichmentTET32.27
52Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.27
53Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA12.27
54Plexiform neurofibromaEnrichmentNF12.27
55NeurofibromaEnrichmentNF12.27
56Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF42.27
57Syndromic x-linked intellectual disability 94EnrichmentGRIA32.27
58NeurofibromatosisEnrichmentNF12.27
59Chromosome 15q24 deletion syndromeEnrichmentSIN3A2.27
60X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF12.27
615q14.3 microdeletion syndromeEnrichmentMEF2C2.27
62Chromosome 17q11.2 deletion syndromeEnrichmentNF12.27
63Intellectual developmental disorder, autosomal dominant 75EnrichmentDHX92.27
64Optic nerve gliomaEnrichmentNF12.27
65Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.27
66Foxg1 syndrome due to intragenic alterationEnrichmentFOXG12.27
67Split hand-foot malformation 1 with sensorineural hearing lossEnrichmentDLX52.27
68Foxg1 syndrome due to 14q12 microdeletionEnrichmentFOXG12.27
6915q11q13 microduplication syndromeEnrichmentUBE3A2.27
70Intellectual disability, autosomal dominant 8EnrichmentGRIN12.27
71Mef2c-related disorderEnrichmentMEF2C2.27
72Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.27
73Tardbp-related predominantly upper-limb distal myopathyEnrichmentTARDBP2.27
74Myelodysplastic neoplasm with increased blasts type 2EnrichmentTET22.27
75Myelodysplastic neoplasm with increased blasts type 1EnrichmentTET22.27
76Myelodysplastic neoplasm with low blastsEnrichmentTET22.27
77Bladder cancerEnrichmentNF1, PTEN1.98
78Cafe-au-lait spots, multipleEnrichmentNF11.97
79Fibromatosis, gingival, 1EnrichmentREST1.97
80Otodental dysplasiaEnrichmentFGF31.97
81Apolipoprotein c-ii deficiencyEnrichmentAPOC21.97
82TrichomegalyEnrichmentFGF51.97
83Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP21.97
84Histiocytoma, angiomatoid fibrousEnrichmentCREB11.97
85Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentFUS1.97
86Cerebral creatine deficiency syndrome 2EnrichmentGAMT1.97
87Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.97
88Silver-russell syndrome 3EnrichmentIGF21.97
89Immunodeficiency 75 with lymphoproliferationEnrichmentTET21.97
90Ataxia, intention tremor, and hypotonia syndrome, childhood-onsetEnrichmentPOU4F11.97
91Congenital disorder of glycosylation with defective fucosylation 1EnrichmentFUT81.97
92Cebalid syndromeEnrichmentMTOR1.97
93Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF11.97
94Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP21.97
95Intravascular large b-cell lymphomaEnrichmentBCL61.97
96Cerebral creatine deficiency syndromeEnrichmentGAMT1.97
97Bilateral generalized polymicrogyriaEnrichmentGRIN11.97
98Intellectual developmental disorder, autosomal dominant 21EnrichmentCTCF1.97
99Familial apolipoprotein c-ii deficiencyEnrichmentAPOC21.97
100X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP21.97
101Witteveen-kolk syndromeEnrichmentSIN3A1.97
102Bardet-biedl syndrome 9EnrichmentNF11.97
103Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsEnrichmentHNRNPH11.97
104Smith-kingsmore syndromeEnrichmentMTOR1.97
105Vacterl with hydrocephalusEnrichmentPTEN1.97
106Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.97
107Creatine deficiency disordersEnrichmentGAMT1.97
108Primary mediastinal large b-cell lymphomaEnrichmentBCL61.97
109Angelman syndrome due to maternal 15q11q13 deletionEnrichmentUBE3A1.97
110Juvenile polyposis of infancyEnrichmentPTEN1.97
111Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.97
112Pleomorphic rhabdomyosarcomaEnrichmentNF11.97
113Progressive bulbar palsyEnrichmentMECP21.97
114Oculootodental syndromeEnrichmentFGF31.97
115Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.97
116BruxismEnrichmentMECP21.97
117Colorectal cancerEnrichmentAKT1, IGF2, RBFOX11.94
118DystoniaEnrichmentGRIA3, MECP21.82
119LaryngomalaciaEnrichmentMECP21.79
120Myopia 2, autosomal dominantEnrichmentCNP1.79
121Watson syndromeEnrichmentNF11.79
122Weaver syndromeEnrichmentEZH21.79
123Neurofibromatosis, familial spinalEnrichmentNF11.79
124Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF11.79
125Cerebellar dysfunction with variable cognitive and behavioral abnormalitiesEnrichmentPOU4F11.79
126High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL61.79
127Myxoid liposarcomaEnrichmentFUS1.79
128Brain cancerEnrichmentNF11.79
129Laryngeal squamous cell carcinomaEnrichmentPTEN1.79
130Desmoplastic/nodular medulloblastomaEnrichmentCTCF1.79
131Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.79
132MyxofibrosarcomaEnrichmentFUS1.79
133Melanoma of soft tissueEnrichmentCREB11.79
134Myelodysplastic syndrome with ring sideroblastsEnrichmentTET21.79
135Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentUBE3A1.79
136Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.79
137Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, RBFOX11.69
138Intellectual developmental disorder, x-linked, syndromic, bain typeEnrichmentHNRNPH11.67
139Neurofibromatosis-noonan syndromeEnrichmentNF11.67
140Focal cortical dysplasia, type iiEnrichmentMTOR1.67
141Mhc class i deficiency 1EnrichmentTAP11.67
142Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentGAD11.67
143Mhc class i deficiencyEnrichmentTAP11.67
144Embryonal rhabdomyosarcomaEnrichmentNF11.67
145Pilocytic astrocytomaEnrichmentNF11.67
146Spastic quadriplegic cerebral palsyEnrichmentGAD11.67
147Sick sinus syndromeEnrichmentMECP21.67
148Intellectual disability, x-linked, syndromic, bain typeEnrichmentHNRNPH11.67
149Silver-russell syndrome due to a point mutationEnrichmentIGF21.67
150Immunodeficiency by defective expression of mhc class iEnrichmentTAP11.67
151Systemic mastocytosis with associated hematologic neoplasmEnrichmentTET21.67
152Isolated focal cortical dysplasia type iiEnrichmentMTOR1.67
153GliomaEnrichmentPTEN1.67
154Middle aortic syndromeEnrichmentNF11.67
155Gingival fibromatosisEnrichmentREST1.67
156Centralopathic epilepsyEnrichmentGRIN1, RBFOX11.65
157Gastric cancerEnrichmentNF1, PTEN1.65
158West syndromeEnrichmentGRIA3, GRIN11.63
159Hereditary breast carcinomaEnrichmentAKT1, PTEN1.63
160Rhabdomyosarcoma 2EnrichmentNF11.57
161Macrocephaly/autism syndromeEnrichmentPTEN1.57
162Major depressive disorderEnrichmentFKBP51.57
163Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentTARDBP1.57
164Follicular lymphomaEnrichmentBCL61.57
165HemangiomaEnrichmentPTEN1.57
166Acute megakaryocytic leukemiaEnrichmentPTEN1.57
167Aggressive systemic mastocytosisEnrichmentTET21.57
168Body mass index quantitative trait locus 11EnrichmentBDNF, GRIA41.53
169Cowden syndrome 1EnrichmentPTEN1.50
170Split-hand/foot malformation 1EnrichmentDLX51.50
171Hemihyperplasia, isolatedEnrichmentIGF21.50
172Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.50
173Wiedemann-steiner syndromeEnrichmentSMC31.50
174Breast adenocarcinomaEnrichmentAKT11.50
175Inherited cancer-predisposing syndromeEnrichmentEZH2, NF1, PTEN1.47
176Hereditary breast ovarian cancer syndromeEnrichmentNF1, PTEN1.45
177Undetermined early-onset epileptic encephalopathyEnrichmentFOXG1, RBFOX11.44
178Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.43
179Silver-russell syndrome 1EnrichmentIGF21.43
180MyelofibrosisEnrichmentTET21.43
181Squamous cell carcinoma, head and neckEnrichmentPTEN1.43
182Renal cell carcinoma, papillary, 1EnrichmentMTOR1.43
183Third-degree atrioventricular blockEnrichmentTET21.43
184Essential thrombocythemiaEnrichmentTET21.43
185Motor neuron diseaseEnrichmentTARDBP1.43
186Focal epilepsyEnrichmentMECP21.43
187Follicular thyroid carcinomaEnrichmentPTEN1.43
188Overgrowth syndromeEnrichmentMTOR1.43
189Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIN11.41
190Ewing sarcomaEnrichmentNF11.37
191Cornelia de lange syndrome 1EnrichmentSMC31.32
192Neurofibromatosis, type iEnrichmentNF11.32
193Leukemia, acute lymphoblastic 3EnrichmentNF11.32
194Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentTET21.32
195Congenital central hypoventilation syndromeEnrichmentBDNF1.32
196Cornelia de lange syndromeEnrichmentSMC31.32
197Juvenile amyotrophic lateral sclerosisEnrichmentFUS1.32
198Optic nerve diseaseEnrichmentFOXG11.28
199MelanomaEnrichmentPTEN1.28
200AutismEnrichmentMECP2, RBFOX11.24
201AsthmaEnrichmentFKBP51.24
202Meningioma, familialEnrichmentPTEN1.24
203Myelodysplastic syndromeEnrichmentTET21.24
204Uterine corpus cancerEnrichmentPTEN1.24
205Breast cancerEnrichmentAKT1, PTEN1.21
206Juvenile myelomonocytic leukemiaEnrichmentNF11.20
207Microphthalmia/coloboma 12EnrichmentCDON1.17
208Nk-cell enteropathyEnrichmentIGF1R1.17
209PheochromocytomaEnrichmentNF11.14
210Pituitary stalk interruption syndromeEnrichmentCDON1.14
211Coloboma of maculaEnrichmentCDON1.11
212Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.11
213Rare genetic intellectual disabilityEnrichmentMTOR1.11
214Septopreoptic holoprosencephalyEnrichmentCDON1.11
215Midline interhemispheric variant of holoprosencephalyEnrichmentCDON1.11
216Isolated congenital microcephalyEnrichmentFOXG11.08
217Microform holoprosencephalyEnrichmentCDON1.08
218Lobar holoprosencephalyEnrichmentCDON1.08
219Alobar holoprosencephalyEnrichmentCDON1.06
220Beckwith-wiedemann syndromeEnrichmentIGF21.03
221Early infantile developmental and epileptic encephalopathyEnrichmentGRIN11.03
222Semilobar holoprosencephalyEnrichmentCDON1.03
223Diffuse large b-cell lymphomaEnrichmentPTEN1.01
224Parkinson's diseaseEnrichmentGAMT1.01
225Ovarian cancerEnrichmentAKT1, PTEN0.99
226Endometrial cancerEnrichmentPTEN0.97
227LissencephalyEnrichmentFOXG10.97
228Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF10.97
229Attention deficit-hyperactivity disorderEnrichmentMECP20.95
230Skin diseaseEnrichmentNF10.95
231Parkinson disease, late-onsetEnrichmentGAMT0.92
232Developmental and epileptic encephalopathy 1EnrichmentGRIN10.90
233RasopathyEnrichmentNF10.88
234StrabismusEnrichmentFOXG10.87
235MicrocephalyEnrichmentIGF1R, MECP20.85
236Prostate cancerEnrichmentPTEN0.84
237Non-syndromic x-linked intellectual disabilityEnrichmentMECP20.75
238Developmental and epileptic encephalopathyEnrichmentGRIA30.75
239Systemic lupus erythematosusEnrichmentMECP20.72
240Leukemia, acute myeloidEnrichmentTET20.71
241EpilepsyEnrichmentMECP20.71
242Charcot-marie-tooth diseaseEnrichmentDHX90.70
243Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentREST0.61
244SchizophreniaEnrichmentRBFOX10.56
245Complex neurodevelopmental disorderEnrichmentGRIA40.31

Loading...
Loading...
Loading...