Rett syndrome causing genes

No Pathway Network information available for Rett syndrome causing genes

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

Disorders associated with Rett syndrome causing genes SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1MicrocephalyEnrichmentGNAO1, GRIN2B, HDAC8, KCNJ10, MECP2, SATB2, SCN1A, SMC1A, STXBP1, SYNGAP1, TCF411.74
2Autism spectrum disorderEnrichmentACTL6B, GRIN2B, KDM5B, MECP2, MEF2C, SATB2, SCN2A, SHANK3, STXBP1, TCF411.06
3Rett syndromeEnrichmentCDKL5, FOXG1, GABBR2, MECP2, RHOBTB210.57
4Rett syndrome, congenital variantEnrichmentCDKL5, FOXG1, GABBR2, MECP2, SMC1A10.39
5West syndromeEnrichmentCDKL5, GNAO1, GRIN2B, SCN1A, SCN2A, SCN8A, STXBP19.81
6Stereotypic movement disorderEnrichmentCDKL5, FOXG1, MECP2, SYNGAP1, TCF49.23
7Developmental and epileptic encephalopathyEnrichmentCDKL5, GNAO1, SCN1A, SCN2A, SCN8A, STXBP18.59
8Focal epilepsyEnrichmentCDKL5, MECP2, SCN2A, SCN8A8.32
9EpilepsyEnrichmentGRIN2A, GRIN2B, MECP2, SCN1A, SCN2A, SCN8A8.30
10AutismEnrichmentACTL6B, CDKL5, MECP2, SCN1A, SCN2A, SCN8A, STXBP18.26
11Congenital nervous system abnormalityEnrichmentCDKL5, EIF2B2, FOXG1, GNAO1, KCNJ10, MECP2, SMC1A7.08
12Nervous system diseaseEnrichmentCDKL5, EIF2B2, FOXG1, GNAO1, KCNJ10, MECP2, SMC1A7.08
13Autosomal dominant non-syndromic intellectual disabilityEnrichmentGRIN2B, HIVEP2, KDM5B, SCN8A, TCF46.07
14Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B, FOXG1, GABBR2, SCN1A, SCN8A5.83
15Developmental and epileptic encephalopathy 1EnrichmentCDKL5, GNAO1, SCN1A, SCN8A5.78
16Complex neurodevelopmental disorderEnrichmentACTL6B, GRIN2B, HTT, SCN2A, SCN8A, SYNGAP15.33
17DystoniaEnrichmentIMPDH2, MECP2, RHOBTB2, SATB25.18
18Developmental and epileptic encephalopathy 76EnrichmentACTL6B, SCN1A4.91
19BruxismEnrichmentCDKL5, MECP24.91
20Generalized epilepsy with febrile seizures plusEnrichmentGABRD, SCN1A, SCN2A4.83
21Early infantile developmental and epileptic encephalopathyEnrichmentCDKL5, GNAO1, SCN2A4.49
22Nicolaides-baraitser syndromeEnrichmentCDKL5, SMARCA24.14
23Developmental and epileptic encephalopathy 4EnrichmentCDKL5, STXBP14.14
24Smarca2-related nicolaides-baraitser syndromeEnrichmentCDKL5, SMARCA24.14
25Self-limited infantile epilepsyEnrichmentSCN2A, SCN8A3.91
26Angelman syndromeEnrichmentCDKL5, MECP23.74
27Alternating hemiplegia of childhoodEnrichmentRHOBTB2, SCN2A3.47
28Choreatic diseaseEnrichmentGNAO1, RHOBTB23.47
29Cerebral palsyEnrichmentGRIN2B, SMARCA4, SYNE23.46
30Benign epilepsy with centrotemporal spikesEnrichmentGRIN2A, SCN1A, SCN2A3.39
31Cornelia de lange syndrome 1EnrichmentHDAC8, SMC1A3.36
32Myoclonic-atonic epilepsyEnrichmentSCN1A, SYNGAP13.36
33Developmental and epileptic encephalopathy 14EnrichmentSCN1A, SCN2A3.36
34Ventricular septal defectEnrichmentBRAF, SMARCA43.36
35Cornelia de lange syndromeEnrichmentHDAC8, SMC1A3.36
36Centralopathic epilepsyEnrichmentGRIN2A, SCN1A, SCN2A3.33
37Dravet syndromeEnrichmentSCN1A, SCN2A3.27
38Atrial heart septal defectEnrichmentHDAC8, SMARCA43.18
39Movement diseaseEnrichmentGNAO1, SCN2A3.18
40Interatrial communicationEnrichmentHDAC8, SMARCA43.18
41Spastic ataxiaEnrichmentSCN2A, STXBP1, SYNE23.07
42Cleft palate, isolatedEnrichmentSATB2, SMARCA42.79
43Diffuse large b-cell lymphomaEnrichmentBRAF, TBL1XR12.70
44Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A2.45
45Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.45
46Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X2.45
47Facial hypertrichosisEnrichmentMECP22.45
48Noonan syndrome 7EnrichmentBRAF2.45
49Leopard syndrome 3EnrichmentBRAF2.45
50Developmental and epileptic encephalopathy 11EnrichmentSCN2A2.45
51Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.45
52Developmental and epileptic encephalopathy 27EnrichmentGRIN2B2.45
53Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B2.45
54Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP22.45
55Impdh2 enzyme activity, variation inEnrichmentIMPDH22.45
56Autism x-linked 3EnrichmentMECP22.45
57Cornelia de lange syndrome 5EnrichmentHDAC82.45
58Neurodevelopmental disorder with poor language and loss of hand skillsEnrichmentGABBR22.45
59Developmental and epileptic encephalopathy 59EnrichmentGABBR22.45
60Myoclonus, familial, 2EnrichmentSCN8A2.45
61Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic featuresEnrichmentGABRA32.45
62Epilepsy, idiopathic generalized 10EnrichmentGABRD2.45
63Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.45
64Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalanceEnrichmentKCNJ102.45
65Developmental and epileptic encephalopathy 17EnrichmentGNAO12.45
66LymphangiomaEnrichmentBRAF2.45
67Phace associationEnrichmentBRAF2.45
68Intellectual developmental disorder, autosomal recessive 65EnrichmentKDM5B2.45
69Episodic ataxia, type 9EnrichmentSCN2A2.45
70Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B2.45
71Emery-dreifuss muscular dystrophy 5, autosomal dominantEnrichmentSYNE22.45
72Benign familial infantile epilepsyEnrichmentSCN2A2.45
73Syndromic x-linked intellectual disability lubs typeEnrichmentMECP22.45
74Cdkl5 deficiency disorderEnrichmentCDKL52.45
75Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF42.45
76Schizophrenia 15EnrichmentSHANK32.45
77Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.45
78Ovarian small cell carcinomaEnrichmentSMARCA42.45
79Deafness, autosomal dominant 75EnrichmentTRRAP2.45
80Lopes-maciel-rodan syndromeEnrichmentHTT2.45
81Developmental and epileptic encephalopathy 64EnrichmentRHOBTB22.45
82Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA22.45
83Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP2.45
84Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B22.45
85Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B2.45
86Landau-kleffner syndromeEnrichmentGRIN2A2.45
875q14.3 microdeletion syndromeEnrichmentMEF2C2.45
88MutismEnrichmentSHANK32.45
89Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.45
90Foxg1 syndrome due to intragenic alterationEnrichmentFOXG12.45
91Syringocystadenoma papilliferumEnrichmentBRAF2.45
92Foxg1 syndrome due to 14q12 microdeletionEnrichmentFOXG12.45
93GangliogliomaEnrichmentBRAF2.45
94Juvenile huntington diseaseEnrichmentHTT2.45
95Nongerminomatous germ cell tumorEnrichmentBRAF2.45
96Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A2.45
97Grin2a-related disordersEnrichmentGRIN2A2.45
98Phace syndromeEnrichmentBRAF2.45
99Gnao1-related disorderEnrichmentGNAO12.45
100Mef2c-related disorderEnrichmentMEF2C2.45
101Classic hairy cell leukemiaEnrichmentBRAF2.45
102Rare renal tubular diseaseEnrichmentKCNJ102.45
103StrabismusEnrichmentFOXG1, STXBP12.39
104Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP22.15
105Cornelia de lange syndrome 2EnrichmentSMC1A2.15
106Pulmonic stenosisEnrichmentBRAF2.15
107Retinoschisis 1, x-linked, juvenileEnrichmentCDKL52.15
108Seizures, benign familial infantile, 3EnrichmentSCN2A2.15
109Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA42.15
110Intellectual developmental disorder, autosomal recessive 5EnrichmentSYNGAP12.15
111Sifrim-hitz-weiss syndromeEnrichmentCHD42.15
112Intellectual developmental disorder, autosomal dominant 43EnrichmentHIVEP22.15
113Migraine, familial hemiplegic, 3EnrichmentSCN1A2.15
114Syndactyly, type iiiEnrichmentHDAC82.15
115Cognitive impairment with or without cerebellar ataxiaEnrichmentSCN8A2.15
116Developmental and epileptic encephalopathy 6bEnrichmentSCN1A2.15
117Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP22.15
118Wilson-turner syndromeEnrichmentHDAC82.15
119Rhabdoid tumor predisposition syndromeEnrichmentSMARCA42.15
120Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A2.15
121X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP22.15
122Benign familial neonatal epilepsyEnrichmentSCN2A2.15
123Developmental and epileptic encephalopathy 30EnrichmentSCN2A2.15
124Phelan-mcdermid syndromeEnrichmentSHANK32.15
125Psychotic disorderEnrichmentSHANK32.15
126Otosclerosis 12EnrichmentSMARCA42.15
127Coffin-siris syndrome 4EnrichmentSMARCA42.15
128Scn1a seizure disordersEnrichmentSCN1A2.15
129Seizures, benign familial infantile, 5EnrichmentSCN8A2.15
1309q33.3q34.11 microdeletion syndromeEnrichmentSTXBP12.15
131Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA22.15
132Malignant migrating partial seizures of infancyEnrichmentSCN2A2.15
133Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A2.15
134Benign neonatal seizuresEnrichmentSCN2A2.15
135RetinoschisisEnrichmentCDKL52.15
136Progressive bulbar palsyEnrichmentMECP22.15
137Epilepsy-aphasia spectrumEnrichmentGRIN2A2.15
138Non-syndromic x-linked intellectual disabilityEnrichmentMECP2, SMARCA12.15
139LaryngomalaciaEnrichmentMECP21.98
140Dystonia 12EnrichmentSCN2A1.98
141Ataxia-telangiectasiaEnrichmentBRAF1.98
142Pierpont syndromeEnrichmentTBL1XR11.98
143Langerhans cell histiocytosisEnrichmentBRAF1.98
144Glass syndromeEnrichmentSATB21.98
145Generalized epilepsy with febrile seizures plus, type 1EnrichmentSCN1A1.98
146Intellectual developmental disorder, autosomal dominant 5EnrichmentSYNGAP11.98
147Generalized epilepsy with febrile seizures plus, type 2EnrichmentSCN1A1.98
148Developmental and epileptic encephalopathy 13EnrichmentSCN8A1.98
149Tethered spinal cord syndromeEnrichmentBRAF1.98
150Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.98
151Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentIMPDH21.98
152Thyrotoxic periodic paralysisEnrichmentGABRA31.98
153Hereditary episodic ataxiaEnrichmentSCN2A1.98
154Episodic kinesigenic dyskinesia 1EnrichmentKCNJ101.85
155Cardiofaciocutaneous syndrome 1EnrichmentBRAF1.85
156Huntington diseaseEnrichmentHTT1.85
157Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.85
158AstigmatismEnrichmentGRIN2B1.85
159Developmental and epileptic encephalopathy 2EnrichmentCDKL51.85
160Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.85
161Pitt-hopkins syndromeEnrichmentTCF41.85
162Developmental and epileptic encephalopathy 12EnrichmentSCN2A1.85
163Tobacco addictionEnrichmentGABBR21.85
164BlepharophimosisEnrichmentSMARCA21.85
165Cardiofaciocutaneous syndromeEnrichmentBRAF1.85
166CraniopharyngiomaEnrichmentBRAF1.85
167Noonan syndrome with multiple lentiginesEnrichmentBRAF1.85
168Newborn respiratory distress syndromeEnrichmentBRAF1.85
169Episodic ataxiaEnrichmentSCN2A1.85
170Familial or sporadic hemiplegic migraineEnrichmentSCN1A1.85
171Sick sinus syndromeEnrichmentMECP21.85
172Myeloma, multipleEnrichmentBRAF, NCOR21.78
173Deafness, autosomal recessive 4, with enlarged vestibular aqueductEnrichmentKCNJ101.76
174Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentSCN8A1.76
175Cholangitis, primary sclerosingEnrichmentTCF41.76
176Fuchs' endothelial dystrophyEnrichmentTCF41.76
177Spastic diplegiaEnrichmentKCNJ101.76
178Sleep disorderEnrichmentGRIN2B1.76
179Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentSYNE21.68
180Wilms tumor 5EnrichmentBRAF1.68
181Pendred syndromeEnrichmentKCNJ101.68
182Wiedemann-steiner syndromeEnrichmentSMC1A1.68
183Thyroid cancer, nonmedullary, 2EnrichmentBRAF1.61
184Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B21.61
185Gallbladder cancerEnrichmentBRAF1.61
186Pilomyxoid astrocytomaEnrichmentBRAF1.61
187Follicular thyroid carcinomaEnrichmentBRAF1.61
188Melanocytic nevus syndrome, congenitalEnrichmentBRAF1.55
189Spastic paraplegia 4, autosomal dominantEnrichmentTCF41.55
190Fanconi anemia, complementation group cEnrichmentHDAC81.55
191Lymphoma, non-hodgkin, familialEnrichmentBRAF1.55
192Lennox-gastaut syndromeEnrichmentSCN1A1.55
193Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B21.55
194NeuroblastomaEnrichmentSMARCA41.55
195Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.50
196Leukoencephalopathy with vanishing white matterEnrichmentEIF2B21.50
197Primary hyperaldosteronismEnrichmentBRAF1.50
198Optic nerve diseaseEnrichmentFOXG11.46
199MelanomaEnrichmentBRAF1.46
200Epilepsy, myoclonic juvenileEnrichmentGABRD1.42
201Epilepsy, idiopathic generalizedEnrichmentGABRD1.42
202Lung non-small cell carcinomaEnrichmentBRAF1.42
203EpicanthusEnrichmentTCF41.38
204Lip and oral cavity carcinomaEnrichmentBRAF1.38
205Hypercholesterolemia, familial, 1EnrichmentSMARCA41.35
206Acute promyelocytic leukemiaEnrichmentTBL1XR11.35
207Premature menopauseEnrichmentEIF2B21.35
208Chromosome 1p36 deletion syndromeEnrichmentGABRD1.35
209Lung cancer susceptibility 3EnrichmentBRAF1.31
210Pituitary stalk interruption syndromeEnrichmentSMARCA21.31
211Coffin-siris syndrome 1EnrichmentSMARCA41.29
212Wilms tumor 1EnrichmentBRAF1.29
213Familial hypercholesterolemiaEnrichmentSMARCA41.29
214Rare genetic intellectual disabilityEnrichmentGNAO11.29
215Noonan syndrome and noonan-related syndromeEnrichmentBRAF1.29
216Isolated congenital microcephalyEnrichmentFOXG11.26
217Melanoma, cutaneous malignant 1EnrichmentBRAF1.23
218Dandy-walker syndromeEnrichmentBRAF1.23
219Sudden infant death syndromeEnrichmentSCN1A1.23
220Polycystic kidney diseaseEnrichmentHDAC81.21
221Semilobar holoprosencephalyEnrichmentSMC1A1.21
222Arteriovenous malformations of the brainEnrichmentBRAF1.19
223CraniosynostosisEnrichmentGRIN2B1.16
224LissencephalyEnrichmentFOXG11.14
225Attention deficit-hyperactivity disorderEnrichmentMECP21.12
226Noonan syndrome 1EnrichmentBRAF1.11
227Brittle bone disorderEnrichmentEIF2B21.11
228MalariaEnrichmentSCN8A1.11
229ScoliosisEnrichmentGRIN2B1.09
230RasopathyEnrichmentBRAF1.05
231Differentiated thyroid carcinomaEnrichmentBRAF1.01
232Lung cancerEnrichmentBRAF0.97
233Fetal akinesia deformation sequence 1EnrichmentSCN8A0.91
234Systemic lupus erythematosusEnrichmentMECP20.89
235Distal arthrogryposisEnrichmentSCN8A0.86
236Body mass index quantitative trait locus 11EnrichmentSCN1A0.79
237Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentTRRAP0.77
238Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.73
239Autosomal recessive non-syndromic intellectual disabilityEnrichmentKDM5B0.73
240Primary ovarian insufficiencyEnrichmentEIF2B20.72
241Dilated cardiomyopathyEnrichmentBRAF0.61
242Colorectal cancerEnrichmentBRAF0.57
243Inherited cancer-predisposing syndromeEnrichmentSMARCA40.43
244Hereditary retinal dystrophyEnrichmentCDKL50.19
245Fundus dystrophyEnrichmentCDKL50.19

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