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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   rett syndrome
  

Disease ID 2
Disease rett syndrome
Definition
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Synonym
autism dementia ataxia loss of purposeful hand use syndrome
autism, dementia, ataxia, and loss of purposeful hand use
autism-dementia-ataxia-loss of purposeful hand use syndrome
cerebroatrophic hyperammonaemia
cerebroatrophic hyperammonemia
cerebroatrophic hyperammonemias
disorder retts
hyperammonemia, cerebroatrophic
hyperammonemias, cerebroatrophic
rett dis
rett disorder
rett syndrome (disorder)
rett syndrome [disease/finding]
rett's disorder
rett's disorder (disorder)
rett's syndrome
retts dis
retts syndrome
rts - rett syndrome
rtt
syndrome rett
syndrome, rett
syndrome, rett's
Orphanet
OMIM
DOID
ICD10
UMLS
C0035372
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:23)
C0014544  |  epilepsy  |  10
C0036439  |  scoliosis  |  5
C0025362  |  mental retardation  |  2
C0004936  |  mental disorders  |  2
C0041341  |  tuberous sclerosis complex  |  1
C0037315  |  sleep apneas  |  1
C0037317  |  sleep disturbance  |  1
C0003635  |  apraxia  |  1
C0021053  |  immune dysfunction  |  1
C0011849  |  diabetes mellitus  |  1
C0520679  |  obstructive sleep apnea  |  1
C0037317  |  sleep disturbances  |  1
C0011570  |  depression  |  1
C0271270  |  oculomotor apraxia  |  1
C0034013  |  precocious puberty  |  1
C0520679  |  obstructive sleep apneas  |  1
C0679466  |  cognitive deficits  |  1
C0011847  |  diabetes  |  1
C0037769  |  infantile spasms  |  1
C0029456  |  osteoporosis  |  1
C0041341  |  tuberous sclerosis  |  1
C0037315  |  sleep apnea  |  1
C0007102  |  colon cancer  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
1959  |  EGR2  |  CTD_human
4204  |  MECP2  |  CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
6792  |  CDKL5  |  CTD_human
5770  |  PTPN1  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:6)
348  |  APOE  |  CIPHER
627  |  BDNF  |  CIPHER
6792  |  CDKL5  |  CIPHER;CTD_human
4204  |  MECP2  |  CIPHER;CTD_human
1959  |  EGR2  |  CTD_human
5770  |  PTPN1  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:146)
60  |  ACTB  |  1.05  |  DISEASES
2334  |  AFF2  |  1.265  |  DISEASES
367  |  AR  |  1.838  |  DISEASES
220202  |  ATOH7  |  1.632  |  DISEASES
537  |  ATP6AP1  |  1.486  |  DISEASES
546  |  ATRX  |  2.501  |  DISEASES
627  |  BDNF  |  4.862  |  DISEASES
139105  |  BEND2  |  2.908  |  DISEASES
714  |  C1QC  |  1.452  |  DISEASES
93664  |  CADPS2  |  1.8  |  DISEASES
922  |  CD5L  |  1.893  |  DISEASES
6792  |  CDKL5  |  7.202  |  DISEASES
1103  |  CHAT  |  2.689  |  DISEASES
1139  |  CHRNA7  |  1.525  |  DISEASES
1385  |  CREB1  |  2.498  |  DISEASES
9696  |  CROCC  |  2.238  |  DISEASES
30827  |  CXXC1  |  4.266  |  DISEASES
1750  |  DLX6  |  3.642  |  DISEASES
1786  |  DNMT1  |  2.292  |  DISEASES
1789  |  DNMT3B  |  1.942  |  DISEASES
29102  |  DROSHA  |  1.79  |  DISEASES
1859  |  DYRK1A  |  1.629  |  DISEASES
2018  |  EMX2  |  1.142  |  DISEASES
104355217  |  ERICD  |  1.118  |  DISEASES
2139  |  EYA2  |  1.575  |  DISEASES
2195  |  FAT1  |  2.266  |  DISEASES
2289  |  FKBP5  |  1.238  |  DISEASES
342184  |  FMN1  |  1.508  |  DISEASES
2332  |  FMR1  |  2.997  |  DISEASES
2290  |  FOXG1  |  5.985  |  DISEASES
93986  |  FOXP2  |  1.25  |  DISEASES
448831  |  FRG2  |  1.924  |  DISEASES
5348  |  FXYD1  |  2.709  |  DISEASES
2555  |  GABRA2  |  1.124  |  DISEASES
2556  |  GABRA3  |  2.391  |  DISEASES
2558  |  GABRA5  |  1.114  |  DISEASES
2563  |  GABRD  |  1.416  |  DISEASES
2567  |  GABRG3  |  1.568  |  DISEASES
2570  |  GABRR2  |  1.648  |  DISEASES
2571  |  GAD1  |  1.682  |  DISEASES
2664  |  GDI1  |  1.487  |  DISEASES
51738  |  GHRL  |  1.084  |  DISEASES
2737  |  GLI3  |  3.286  |  DISEASES
2747  |  GLUD2  |  2.363  |  DISEASES
9721  |  GPRIN2  |  2.352  |  DISEASES
2894  |  GRID1  |  1.881  |  DISEASES
2902  |  GRIN1  |  2.152  |  DISEASES
2903  |  GRIN2A  |  1.985  |  DISEASES
2925  |  GRPR  |  1.131  |  DISEASES
3005  |  H1F0  |  2.427  |  DISEASES
3065  |  HDAC1  |  2.472  |  DISEASES
3066  |  HDAC2  |  1.979  |  DISEASES
3185  |  HNRNPF  |  1.399  |  DISEASES
51361  |  HOOK1  |  1.967  |  DISEASES
3201  |  HOXA4  |  1.312  |  DISEASES
83943  |  IMMP2L  |  1.465  |  DISEASES
3653  |  IPW  |  1.426  |  DISEASES
23096  |  IQSEC2  |  3.205  |  DISEASES
3654  |  IRAK1  |  2.939  |  DISEASES
221037  |  JMJD1C  |  1.61  |  DISEASES
3785  |  KCNQ2  |  2.498  |  DISEASES
3840  |  KPNA4  |  1.508  |  DISEASES
157627  |  LINC00599  |  2.456  |  DISEASES
4152  |  MBD1  |  1.843  |  DISEASES
55777  |  MBD5  |  2.216  |  DISEASES
114785  |  MBD6  |  3.585  |  DISEASES
4204  |  MECP2  |  9.408  |  DISEASES
219541  |  MED19  |  1.077  |  DISEASES
4205  |  MEF2A  |  2.416  |  DISEASES
4208  |  MEF2C  |  2.978  |  DISEASES
55384  |  MEG3  |  1.502  |  DISEASES
283078  |  MKX  |  2.163  |  DISEASES
4336  |  MOBP  |  2.354  |  DISEASES
89795  |  NAV3  |  1.421  |  DISEASES
9612  |  NCOR2  |  1.686  |  DISEASES
10763  |  NES  |  1.13  |  DISEASES
4803  |  NGF  |  2.846  |  DISEASES
4857  |  NOVA1  |  2.303  |  DISEASES
9315  |  NREP  |  1.951  |  DISEASES
8828  |  NRP2  |  1.691  |  DISEASES
22854  |  NTNG1  |  3.9  |  DISEASES
84628  |  NTNG2  |  3.793  |  DISEASES
4975  |  OMP  |  1.405  |  DISEASES
4983  |  OPHN1  |  1.168  |  DISEASES
27328  |  PCDH11X  |  1.227  |  DISEASES
57526  |  PCDH19  |  1.909  |  DISEASES
5099  |  PCDH7  |  1.692  |  DISEASES
26227  |  PHGDH  |  2.18  |  DISEASES
55361  |  PI4K2A  |  2.698  |  DISEASES
55558  |  PLXNA3  |  1.872  |  DISEASES
91584  |  PLXNA4  |  1.94  |  DISEASES
5475  |  PPEF1  |  1.331  |  DISEASES
5587  |  PRKD1  |  1.314  |  DISEASES
55660  |  PRPF40A  |  2.606  |  DISEASES
25766  |  PRPF40B  |  2.251  |  DISEASES
5634  |  PRPS2  |  1.302  |  DISEASES
158471  |  PRUNE2  |  1.536  |  DISEASES
139411  |  PTCHD1  |  2.088  |  DISEASES
9791  |  PTDSS1  |  1.701  |  DISEASES
146713  |  RBFOX3  |  2.123  |  DISEASES
23186  |  RCOR1  |  2.078  |  DISEASES
5649  |  RELN  |  1.914  |  DISEASES
473  |  RERE  |  1.213  |  DISEASES
23221  |  RHOBTB2  |  1.309  |  DISEASES
221687  |  RNF182  |  2.839  |  DISEASES
6092  |  ROBO2  |  1.207  |  DISEASES
22895  |  RPH3A  |  1.743  |  DISEASES
6194  |  RPS6  |  1.605  |  DISEASES
6330  |  SCN4B  |  1.55  |  DISEASES
54437  |  SEMA5B  |  2.523  |  DISEASES
57556  |  SEMA6A  |  1.031  |  DISEASES
83852  |  SETDB2  |  2.001  |  DISEASES
22941  |  SHANK2  |  1.012  |  DISEASES
85358  |  SHANK3  |  2.081  |  DISEASES
25942  |  SIN3A  |  3.745  |  DISEASES
57468  |  SLC12A5  |  2.084  |  DISEASES
6572  |  SLC18A3  |  1.93  |  DISEASES
81539  |  SLC38A1  |  1.326  |  DISEASES
9152  |  SLC6A5  |  1.269  |  DISEASES
10479  |  SLC9A6  |  1.091  |  DISEASES
84679  |  SLC9A7  |  1.344  |  DISEASES
6594  |  SMARCA1  |  2.081  |  DISEASES
6597  |  SMARCA4  |  1.304  |  DISEASES
8926  |  SNURF  |  1.831  |  DISEASES
6657  |  SOX2  |  1.051  |  DISEASES
8869  |  ST3GAL5  |  1.461  |  DISEASES
11075  |  STMN2  |  1.181  |  DISEASES
6812  |  STXBP1  |  2.177  |  DISEASES
8224  |  SYN3  |  1.366  |  DISEASES
148281  |  SYT6  |  2.423  |  DISEASES
6863  |  TAC1  |  2.376  |  DISEASES
79718  |  TBL1XR1  |  1.827  |  DISEASES
90665  |  TBL1Y  |  1.663  |  DISEASES
6925  |  TCF4  |  1.618  |  DISEASES
80312  |  TET1  |  1.613  |  DISEASES
200424  |  TET3  |  1.089  |  DISEASES
7054  |  TH  |  2.363  |  DISEASES
10376  |  TUBA1B  |  1.296  |  DISEASES
113457  |  TUBA3D  |  1.076  |  DISEASES
7337  |  UBE3A  |  3.773  |  DISEASES
8633  |  UNC5C  |  1.132  |  DISEASES
285175  |  UNC80  |  2.035  |  DISEASES
51481  |  VCX3A  |  1.577  |  DISEASES
11152  |  WDR45  |  2.185  |  DISEASES
56897  |  WRNIP1  |  1.229  |  DISEASES
4904  |  YBX1  |  1.519  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
MECP2  |  Xq28
Disease ID 2
Disease rett syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:39)
HP:0010864  |  Intellectual disability, severe
HP:0100716  |  Self-injurious behavior
HP:0002186  |  Apraxia
HP:0004322  |  Short stature
HP:0000929  |  Abnormality of the skull
HP:0002376  |  Developmental regression
HP:0001257  |  Spasticity
HP:0001251  |  Ataxia
HP:0000733  |  Stereotypy
HP:0001332  |  Dystonia
HP:0000164  |  Abnormality of the teeth
HP:0002120  |  Cerebral cortical atrophy
HP:0002308  |  Arnold-Chiari malformation
HP:0004374  |  Hemiplegia/hemiparesis
HP:0002804  |  Arthrogryposis multiplex congenita
HP:0002353  |  EEG abnormality
HP:0000708  |  Behavioral abnormality
HP:0001250  |  Seizures
HP:0003199  |  Decreased muscle mass
HP:0002093  |  Respiratory insufficiency
HP:0009738  |  Abnormality of the antihelix
HP:0002445  |  Tetraplegia
HP:0001163  |  Abnormality of the metacarpal bones
HP:0000252  |  Microcephaly
HP:0002650  |  Scoliosis
HP:0011675  |  Arrhythmia
HP:0100022  |  Abnormality of movement
HP:0001508  |  Failure to thrive
HP:0002240  |  Hepatomegaly
HP:0004209  |  Clinodactyly of the 5th finger
HP:0000717  |  Autism
HP:0001786  |  Narrow foot
HP:0012742  |  Thin fingernail
HP:0001324  |  Muscle weakness
HP:0001387  |  Joint stiffness
HP:0002357  |  Dysphasia
HP:0000716  |  Depression
HP:0000400  |  Macrotia
HP:0001063  |  Acrocyanosis
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:30)
Disease ID 2
Disease rett syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:40)
C2678504  |  osteoporosis
C2598155  |  pain
C2220255  |  motor disturbances
C2029884  |  hearing loss
C1963087  |  constipation
C0878787  |  growth failure
C0851578  |  sleep disorders
C0851578  |  sleep disorder
C0751901  |  vocal tics
C0700208  |  scoliosis
C0700201  |  sleep disturbance
C0520680  |  central sleep apnoea
C0432443  |  monosomy 18q
C0426980  |  motor symptoms
C0393593  |  dystonia
C0268434  |  hyperkalemic distal renal tubular acidosis
C0264890  |  severe sinus bradycardia
C0235169  |  excitability
C0235031  |  neurological symptoms
C0231243  |  early complication
C0221391  |  melanosis coli
C0221163  |  motor disorders
C0036572  |  seizures
C0035204  |  respiratory disorders
C0029713  |  immaturity
C0029166  |  oral manifestations
C0028709  |  nutritional problems
C0027066  |  myoclonus
C0026650  |  movement disorders
C0026650  |  movement disorder
C0025958  |  microcephaly
C0025362  |  mental retardation
C0021845  |  intestinal perforations
C0016412  |  folate deficiency
C0014544  |  epileptic seizure
C0014544  |  epilepsy
C0013384  |  abnormal movements
C0013363  |  dysautonomia
C0006325  |  bruxism
C0004352  |  autism
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
C0014544  |  epilepsy  |  10
C0036439  |  scoliosis  |  4
C0036572  |  seizures  |  4
C0025362  |  mental retardation  |  2
C0029456  |  osteoporosis  |  1
C0235031  |  neurological symptoms  |  1
C0037317  |  sleep disturbance  |  1
Manually Genotype(Total Manually Genotypes:10)
Gene Mutation DOI Article Title
MECP2c.148_152del (p.E50fs)doi:10.1038/gim.2016.42Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
MECP2c.41_57dup17 (p.R20fs)doi:10.1038/gim.2016.42Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
MECP2c.A1G (p.M1V)doi:10.1038/gim.2016.42Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
MECP2NM_004992, c.397C>T (p.R133C)doi:10.1038/gim.2015.186Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
MECP2NM_004992, c.473C>T (p.T158M)doi:10.1038/gim.2015.186Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
MECP2NM_004992, c.1164_1207del44 (p.P389*)doi:10.1038/gim.2015.186Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
MECP2Het del exon 3–4doi:10.1038/gim.2011.65Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
MECP2Het dup exon 3–4doi:10.1038/gim.2011.65Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
MECP2Ex4:c.1161C>T / p.(=) (Benign); Ex4:c.608C>T / p.T203M (Benign); Ex4:c.683C>G / p.T228S (Pathogenic)doi:10.1038/gim.2015.30Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
JMJD1CExon 4, c. 488C>Tdoi:10.1038/gim.2015.100Mutations in JMJD1C are involved in Rett syndrome and intellectual disability
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:280)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894864NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030465CA
rs179363901NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097661GA
rs193922676NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030677GA
rs193922677NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030501CT
rs193922679NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031254TA
rs267608327NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030631GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA-
rs267608329NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030628GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG-
rs267608343NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030628GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA-
rs267608372NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030633GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT-
rs267608386NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031175CCAGGACTTTTCT-
rs267608409NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154092182AT
rs267608411NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032563GC
rs267608412NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032559TC
rs267608416NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032533-T
rs267608417NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032527-T
rs267608424NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032471TCTTCTT-
rs267608425NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032476TT-
rs267608426NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032473TTCT-
rs267608427NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032466-T
rs267608428NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032464CT-
rs267608434NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032416GG-
rs267608438NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032381GC
rs267608440NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032360GA
rs267608442NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032351G-
rs267608443NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032340-G
rs267608444NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032325TG-
rs267608445NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032310CA
rs267608446NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032308-C
rs267608449NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032287GGT-
rs267608452NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032257-T
rs267608457NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032209G-
rs267608463NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032206CT,A
rs267608464NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031452TG,C,A
rs267608465NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031453GC,A
rs267608469NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031446GC,A
rs267608475NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031415AT,G
rs267608476NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031408C-
rs267608482NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031357-A
rs267608483NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031357GA-
rs267608485NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031353C-
rs267608486NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031347CA-
rs267608487NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031343-T
rs267608488NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031339CC-
rs267608492NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031310GC
rs267608495NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031290TA
rs267608496NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031284GA-
rs267608499NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031261-C
rs267608503NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031226-C
rs267608506NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031219-T
rs267608507NA4204MECP2umls:C0035372CLINVARNA0.8NANANANANANA
rs267608510NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031176CA-
rs267608513NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031155GT,C
rs267608514NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031151-T
rs267608516NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031132-C
rs267608517NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031117-C
rs267608518NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031107-G
rs267608519NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031069CCTGCCGGGGCGTTTGATCACCATGA-
rs267608520NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031085ATCACCATCAC
rs267608521NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031078GAAGCTTCCTGA
rs267608522NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031074-G,GG
rs267608523NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031069CCTG-
rs267608524NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031048-TCGGCCTCAGCTTT
rs267608525NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031044GA
rs267608526NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031035GA-
rs267608529NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031015CTTT-
rs267608536NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030962TT-
rs267608538NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030958-T
rs267608540NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030926AGTACGGTCTCCTGCACAGATC-
rs267608541NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030945A-
rs267608543NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030924GGAGTAC-
rs267608544NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030930C-
rs267608548NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030922G-
rs267608558NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030830CCGCT-
rs267608559NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030801CAGGGCTCTTACAGGTCTT-
rs267608564NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030757GCT-
rs267608567NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030710GAGTGGTGGTGATGGTGGTG-
rs267608569NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030710GT,C
rs267608570NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030691GGGGGCCTTTG-
rs267608573NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030634GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCA-
rs267608574NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030640GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG-
rs267608576NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030673GGGT-
rs267608577NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030638TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG-
rs267608578NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030643GCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG-
rs267608579NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030631GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG-
rs267608580NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030645TCTCGGGCTCAGGTGGAGGTGGGGGCAGG-
rs267608582NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030656GGTGGAGGTGGGGGCAG-
rs267608584NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030670-AG
rs267608585NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030640GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA-
rs267608587NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030629GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA-
rs267608588NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030630TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC-
rs267608589NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030635TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG-
rs267608590NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030668GGA
rs267608591NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030643GCTCTCGGGCTCAGGTGGAGGTGGGG-
rs267608592NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030628GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG-
rs267608593NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030640GGAGCTCTCGGGCTCAGGTGGAGGTGGGG-
rs267608595NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030662GGTGGGG-
rs267608596NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030623GGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGT
rs267608600NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030640GGAGCTCTCGGGCTCAGGTGGAGGTG-
rs267608601NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030649GGGCTCAGGTGGAGGTG-
rs267608603NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030622GGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT-
rs267608606NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030664T-
rs267608607NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030638TCGGAGCTCTCGGGCTCAGGTGGAGG-
rs267608609NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030621GGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGT-
rs267608610NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030637-T
rs267608612NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030630-G
rs267608613NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030627-G
rs267608614NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030625-C
rs267608617NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030568TCTGGGCATCTTCTCCTCTTTGCAGA-
rs267608624NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030507-A
rs267608627NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030463-G
rs267608637NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030355CTCCGTGTAAAGTCAGCTAACTCT-
rs267608638NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030375CTCT-
rs267608639NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030374-CT
rs267608640NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030371CTAA-
rs267608641NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030371-TA
rs28934904184996644204MECP2umls:C0035372BeFreeHere, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.0.82008MECP2X154031431GC,A
rs28934904161226334204MECP2umls:C0035372BeFreeClassic Rett syndrome in a boy with R133C mutation of MECP2.0.82005MECP2X154031431GC,A
rs28934904NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031431GC,A
rs28934904105085144204MECP2umls:C0035372UNIPROTRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.0.81999MECP2X154031431GC,A
rs28934905105085144204MECP2umls:C0035372UNIPROTRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.0.81999MECP2X154031364AG,C
rs28934905184996644204MECP2umls:C0035372BeFreeHere, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.0.82008MECP2X154031364AG,C
rs28934905NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031364AG,C
rs28934906184996644204MECP2umls:C0035372BeFreeHere, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.0.82008MECP2X154031355GA
rs28934906230350694204MECP2umls:C0035372BeFreeIn classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).0.82012MECP2X154031355GA
rs28934906169056794204MECP2umls:C0035372BeFreeCorrelation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.0.82007MECP2X154031355GA
rs28934906NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031355GA
rs28934906105085144204MECP2umls:C0035372UNIPROTRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.0.81999MECP2X154031355GA
rs28934907NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032268GC,A
rs28934907184996644204MECP2umls:C0035372BeFreeHere, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.0.82008MECP2X154032268GC,A
rs28934907105085144204MECP2umls:C0035372UNIPROTRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.0.81999MECP2X154032268GC,A
rs28934908NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031409GT,A
rs28935168110558984204MECP2umls:C0035372UNIPROTDiagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.0.82000MECP2X154032286GC
rs28935168NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032286GC
rs28935468NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030912GA
rs28935468105779054204MECP2umls:C0035372UNIPROTRett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.0.81999MECP2X154030912GA
rs386134271NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030642AGCTCTCGGGCTCAGGTGGAGGTGGGGGCTGG
rs56268439NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030639CA,T
rs587783132NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097665TC,A
rs61748381NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031226GA
rs61748389NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031430CT,A
rs61748390NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031427GC,A
rs61748393NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031417C-
rs61748396NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031405GT,C
rs61748398NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031399-A
rs61748399NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031398TA
rs61748400NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031397T-
rs61748402NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031377C-
rs61748404NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031373GC
rs61748408NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031360GC,A
rs61748415NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031348A-
rs61748418NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031345C-
rs61748420NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031329GA
rs61748421169056794204MECP2umls:C0035372BeFreeCorrelation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.0.82007MECP2X154031326GT,A
rs61748421230350694204MECP2umls:C0035372BeFreeIn classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).0.82012MECP2X154031326GT,A
rs61748421NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031326GT,A
rs61748421193496044204MECP2umls:C0035372BeFreeIn those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6-point increase in severity score for those who were heterozygous for the BDNF polymorphism, both unadjusted (p = 0.02) and adjusted for age (p = 0.03).0.82009MECP2X154031326GT,A
rs61748425NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031320GA
rs61749703NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031297T-
rs61749707NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031274C-
rs61749708NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031262C-
rs61749709NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031260-T
rs61749715NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031154GC,A
rs61749717NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031236TG,A
rs61749718NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031230TA
rs61749721230350694204MECP2umls:C0035372BeFreeIn classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).0.82012MECP2X154031065GA
rs61749721NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031065GA
rs61749723NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030923GT,C,A
rs61749724NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031217GC
rs61749726NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031215CG,A
rs61749727NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031211C-
rs61749728NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031207-A
rs61749729NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031206GA
rs61749734NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031171CTTC-
rs61749736NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031150-T
rs61749739NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031142GT,A
rs61749741NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031132G-
rs61749743NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031118C-
rs61749747NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031098GA
rs61749749NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031091-AT
rs61749750NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031089C-
rs61749751NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031076-GGCGT,G
rs61749752NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031079-G,A
rs61750225NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031075GGGGCGCGGCC
rs61750231NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031075G-
rs61750232NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031072-C
rs61750233NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031073C-
rs61750235NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031064-GCTTCCTG
rs61750238NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031029TA
rs61750240117388724204MECP2umls:C0035372BeFreeAmong 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X).0.82001MECP2X154031020GC,A
rs61750240179147284204MECP2umls:C0035372BeFreeA genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X).0.82007MECP2X154031020GC,A
rs61750240160777294204MECP2umls:C0035372BeFreep.R270X MECP2 mutation and mortality in Rett syndrome.0.82005MECP2X154031020GC,A
rs61750240230350694204MECP2umls:C0035372BeFreeIn classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).0.82012MECP2X154031020GC,A
rs61750240NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031020GC,A
rs61750241NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031022C-
rs61750242NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031010CCCGGCT-
rs61750247NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030998G-
rs61750256NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030969CTTT-
rs61750259NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030963TA
rs61751361NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030953-T
rs61751362NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030948GC,A
rs61751364NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030944GATCG-
rs61751367NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030939GA
rs61751443NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030911CT,A
rs61751444NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030903GA
rs61751449NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030864GC,A
rs61752365NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030790GC
rs61752372NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030749GT
rs61752375NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030741TA
rs61752992NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030627TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC-
rs61753011NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030633-A
rs61753965NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030612GA
rs61753972NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030519GA-
rs61753979NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030471GA
rs61754419NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030641GAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA-
rs61754421NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032556CG,A
rs61754425NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032529GA
rs61754426NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032508G-
rs61754427NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032493C-
rs61754428NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032481TATC-
rs61754430NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032457-C
rs61754431NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032443-T
rs61754432NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032438GT,C
rs61754436NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032394TC-
rs61754437NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032390GC
rs61754438NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032383C-
rs61754441NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032368-G,A
rs61754453NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032282GT,C,A
rs61754455NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032273CT
rs61754456NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032268-T
rs61754457NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032267CT,A
rs61755761NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032239G-
rs62641234NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032520TA
rs62701461NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030927GTAC-
rs62931162NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031020G-
rs62952161NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031389C-
rs63009262NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030628GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC-
rs63094662NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030648CT,A
rs63260260NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031133C-
rs63583161NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030661AGGTGGGGGC-
rs63749008NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032541-TTCTGACT
rs63749010NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032261AGCTTCCGTGTCC-
rs63749012NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030996CTGCCACCACACTCCCC-
rs63749023NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030636CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGG-
rs63749024NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030637CTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG-
rs63749029NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030642AGCTCTCGGGCTCAGGTGGAGGTGGGGGC-
rs63749030NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030627TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG-
rs63749038NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030563CCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCA-
rs63749064NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030539GGGCAGCCGTCGCTCTCCAGTGAGCCGGCCGCT
rs63749748NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030628GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA-
rs672601302NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030832GCTCTTCTNNNNNNNNNNNNNNNNNN
rs727505391NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031344TC
rs786204307NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031255G-
rs786204309NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031112GCCCCACCCCCCTCA-
rs786204310NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031046GGGTCGGCCTCAGCTTTTCGCTTCCTGCC-
rs786204311NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030992-CGGCTGCCACCACACTCCC
rs786204316NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030417TG-
rs786205019NA4204MECP2umls:C0035372CLINVARNA0.8NANANANANANA
rs786205020NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030634GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT-
rs786205021NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030647-A
rs786205023NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030417TGTTCA
rs786205025NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032262-CTTC
rs786205027NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031062TA
rs786205028NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031010CCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCT-
rs786205029NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030997-NNNNNNNNNNNNNNNNNNNNNNN
rs786205030NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030969CTTTCAGTCTTTTTTTT
rs786205031NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030948GGATAGAAGACTTGTG
rs786205038NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097638-CGGCG
rs786205040NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097636GTC
rs786205042NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097609CTCCTCCTCGC-
rs786205043NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097611CCTCCTCG-
rs786205044NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097610-CCTCCTCG
rs786205045NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097618GA
rs786205047NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097606TC-
rs786205049NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097601CA-
rs786205892NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154092209TA
rs786205895NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031438T-
rs797044733NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154030661-G
rs797045693NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154097635CG-
rs797045694NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154032527CTGGAGGTCCT-
rs797045695NA4204MECP2umls:C0035372CLINVARNA0.8NAMECP2X154031156-ATCTTGA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:12)
HP ID HP Name MP ID MP Name Annotation
HP:0001387Joint stiffnessMP:0003098decreased tendon stiffnessreduced ability of tendon to maintain tensile strength and load
HP:0002120Cerebral cortical atrophyMP:0012506brain atrophyacquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0001508Failure to thriveMP:0013294prenatal lethality prior to heart atrial septationdeath prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0004209Clinodactyly of the 5th fingerMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0100022Abnormality of movementMP:0005223abnormal dorsal-ventral polarity of the somitesanomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body
HP:0100716Self-injurious behaviorMP:0009848increased horizontal stereotypic behaviorincrease in the frequency of repetitive rearings (greater than one per second)
HP:0000164Abnormality of the teethMP:0010382abnormal dosage compensation, by inactivation of X chromosomeanomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
HP:0001324Muscle weaknessMP:0000746weaknessstate of being infirm or less strong than normal
HP:0009738Abnormality of the antihelixMP:0012167abnormal epigenetic regulation of gene expressionany anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0000733Stereotypic behaviorMP:0012312impaired avoidance learning behaviorimpaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
HP:0001163Abnormality of the metacarpal bonesMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0003199Decreased muscle massMP:0009404centrally nucleated skeletal muscle fiberscell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy
Mapped by homologous gene(Total Items:38)
HP ID HP Name MP ID MP Name Annotation
HP:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0011675ArrhythmiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000164Abnormality of the teethMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002120Cerebral cortical atrophyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000708Behavioral abnormalityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0003199Decreased muscle massMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000717AutismMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0009738Abnormality of the antihelixMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002445TetraplegiaMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002240HepatomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004374Hemiplegia/hemiparesisMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002308Arnold-Chiari malformationMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0100022Abnormality of movementMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001257SpasticityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001508Failure to thriveMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000929Abnormality of the skullMP:0014179abnormal blood-retinal barrier functionanomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0002804Arthrogryposis multiplex congenitaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001324Muscle weaknessMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0100716Self-injurious behaviorMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001786Narrow footMP:0011110preweaning lethality, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0002376Developmental regressionMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0010864Intellectual disability, severeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0001063AcrocyanosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001332DystoniaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001163Abnormality of the metacarpal bonesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000733Stereotypic behaviorMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004209Clinodactyly of the 5th fingerMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001387Joint stiffnessMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000716DepressionMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000400MacrotiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002357DysphasiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002186ApraxiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000252MicrocephalyMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
Disease ID 2
Disease rett syndrome
Case(Waiting for update.)