PedAM

Pediatric Disease Annotations & Medicines


	rett syndrome

Disease ID	12
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	ORPHANET:778
OMIM	OMIM:312750
DOID	DOID:1206
ICD10	ICD10CM:F84.2
UMLS	C0035372
MeSH	D015518
SNOMED-CT	SNOMEDCT_US_2016_09_01:68618008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0014544 \| epilepsy \| 10 C0036439 \| scoliosis \| 4 C0004936 \| mental disorders \| 3 C0025362 \| mental retardation \| 2 C0007102 \| colon cancer \| 1 C0029456 \| osteoporosis \| 1 C0037317 \| sleep disturbances \| 1 C0041341 \| tuberous sclerosis \| 1 C0037769 \| infantile spasms \| 1 C0520679 \| obstructive sleep apnea \| 1 C0036341 \| schizophrenia \| 1 C0037317 \| sleep disturbance \| 1 C0036346 \| childhood schizophrenia \| 1 C0011847 \| diabetes \| 1 C0011849 \| diabetes mellitus \| 1 C0003635 \| apraxia \| 1 C0034013 \| precocious puberty \| 1 C0679466 \| cognitive deficits \| 1 C0037315 \| sleep apneas \| 1 C0520679 \| obstructive sleep apneas \| 1 C0041341 \| tuberous sclerosis complex \| 1 C0021053 \| immune dysfunction \| 1 C0037315 \| sleep apnea \| 1 C0011570 \| depression \| 1 C0271270 \| oculomotor apraxia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) PTPN1 \| 5770 \| CTD_human MECP2 \| 4204 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT EGR2 \| 1959 \| CTD_human CDKL5 \| 6792 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 348 \| APOE \| infer 627 \| BDNF \| infer 6792 \| CDKL5 \| infer 4204 \| MECP2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:227) 64132 \| XYLT2 \| DISEASES 7384 \| UQCRC1 \| DISEASES 1652 \| DDT \| DISEASES 5816 \| PVALB \| DISEASES 140679 \| SLC32A1 \| DISEASES 6907 \| TBL1X \| DISEASES 2742 \| GLRA2 \| DISEASES 10084 \| PQBP1 \| DISEASES 57030 \| SLC17A7 \| DISEASES 1749 \| DLX5 \| DISEASES 4232 \| MEST \| DISEASES 59084 \| ENPP5 \| DISEASES 10314 \| LANCL1 \| DISEASES 58512 \| DLGAP3 \| DISEASES 1959 \| EGR2 \| DISEASES 64101 \| LRRC4 \| DISEASES 8930 \| MBD4 \| DISEASES 7166 \| TPH1 \| DISEASES 10389 \| SCML2 \| DISEASES 2670 \| GFAP \| DISEASES 51132 \| RLIM \| DISEASES 8932 \| MBD2 \| DISEASES 79056 \| PRRG4 \| DISEASES 26122 \| EPC2 \| DISEASES 9568 \| GABBR2 \| DISEASES 5460 \| POU5F1 \| DISEASES 23314 \| SATB2 \| DISEASES 3093 \| UBE2K \| DISEASES 3839 \| KPNA3 \| DISEASES 949 \| SCARB1 \| DISEASES 6558 \| SLC12A2 \| DISEASES 6845 \| VAMP7 \| DISEASES 54487 \| DGCR8 \| DISEASES 6855 \| SYP \| DISEASES 50937 \| CDON \| DISEASES 5775 \| PTPN4 \| DISEASES 8745 \| ADAM23 \| DISEASES 27338 \| UBE2S \| DISEASES 5443 \| POMC \| DISEASES 793 \| CALB1 \| DISEASES 7982 \| ST7 \| DISEASES 6595 \| SMARCA2 \| DISEASES 6713 \| SQLE \| DISEASES 8892 \| EIF2B2 \| DISEASES 84530 \| SRRM4 \| DISEASES 9611 \| NCOR1 \| DISEASES 9869 \| SETDB1 \| DISEASES 256006 \| ANKRD31 \| DISEASES 4915 \| NTRK2 \| DISEASES 57689 \| LRRC4C \| DISEASES 2904 \| GRIN2B \| DISEASES 6695 \| SPOCK1 \| DISEASES 3773 \| KCNJ16 \| DISEASES 223117 \| SEMA3D \| DISEASES 2890 \| GRIA1 \| DISEASES 57477 \| SHROOM4 \| DISEASES 4489 \| MT1A \| DISEASES 1742 \| DLG4 \| DISEASES 6811 \| STX5 \| DISEASES 6853 \| SYN1 \| DISEASES 256471 \| MFSD8 \| DISEASES 9317 \| PTER \| DISEASES 2562 \| GABRB3 \| DISEASES 55800 \| SCN3B \| DISEASES 7846 \| TUBA1A \| DISEASES 84790 \| TUBA1C \| DISEASES 3479 \| IGF1 \| DISEASES 6323 \| SCN1A \| DISEASES 2915 \| GRM5 \| DISEASES 2186 \| BPTF \| DISEASES 29930 \| PCDHB1 \| DISEASES 2348 \| FOLR1 \| DISEASES 8609 \| KLF7 \| DISEASES 9743 \| ARHGAP32 \| DISEASES 55929 \| DMAP1 \| DISEASES 713 \| C1QB \| DISEASES 10009 \| ZBTB33 \| DISEASES 9129 \| PRPF3 \| DISEASES 10949 \| HNRNPA0 \| DISEASES 3350 \| HTR1A \| DISEASES 2824 \| GPM6B \| DISEASES 6863 \| TAC1 \| DISEASES 6330 \| SCN4B \| DISEASES 91584 \| PLXNA4 \| DISEASES 6657 \| SOX2 \| DISEASES 113457 \| TUBA3D \| DISEASES 83852 \| SETDB2 \| DISEASES 2747 \| GLUD2 \| DISEASES 1789 \| DNMT3B \| DISEASES 90665 \| TBL1Y \| DISEASES 83943 \| IMMP2L \| DISEASES 2894 \| GRID1 \| DISEASES 8224 \| SYN3 \| DISEASES 84679 \| SLC9A7 \| DISEASES 2567 \| GABRG3 \| DISEASES 2903 \| GRIN2A \| DISEASES 5587 \| PRKD1 \| DISEASES 2139 \| EYA2 \| DISEASES 342184 \| FMN1 \| DISEASES 3840 \| KPNA4 \| DISEASES 51738 \| GHRL \| DISEASES 2558 \| GABRA5 \| DISEASES 8926 \| SNURF \| DISEASES 10376 \| TUBA1B \| DISEASES 1103 \| CHAT \| DISEASES 219541 \| MED19 \| DISEASES 2289 \| FKBP5 \| DISEASES 3185 \| HNRNPF \| DISEASES 473 \| RERE \| DISEASES 2290 \| FOXG1 \| DISEASES 29102 \| DROSHA \| DISEASES 4208 \| MEF2C \| DISEASES 5348 \| FXYD1 \| DISEASES 3005 \| H1F0 \| DISEASES 22941 \| SHANK2 \| DISEASES 57556 \| SEMA6A \| DISEASES 4205 \| MEF2A \| DISEASES 6925 \| TCF4 \| DISEASES 4983 \| OPHN1 \| DISEASES 114785 \| MBD6 \| DISEASES 11152 \| WDR45 \| DISEASES 2555 \| GABRA2 \| DISEASES 60 \| ACTB \| DISEASES 54437 \| SEMA5B \| DISEASES 6597 \| SMARCA4 \| DISEASES 2571 \| GAD1 \| DISEASES 3785 \| KCNQ2 \| DISEASES 1786 \| DNMT1 \| DISEASES 3201 \| HOXA4 \| DISEASES 8828 \| NRP2 \| DISEASES 25942 \| SIN3A \| DISEASES 5475 \| PPEF1 \| DISEASES 922 \| CD5L \| DISEASES 10763 \| NES \| DISEASES 2018 \| EMX2 \| DISEASES 26227 \| PHGDH \| DISEASES 4803 \| NGF \| DISEASES 148281 \| SYT6 \| DISEASES 55558 \| PLXNA3 \| DISEASES 537 \| ATP6AP1 \| DISEASES 3654 \| IRAK1 \| DISEASES 22854 \| NTNG1 \| DISEASES 2556 \| GABRA3 \| DISEASES 2334 \| AFF2 \| DISEASES 2332 \| FMR1 \| DISEASES 55361 \| PI4K2A \| DISEASES 10479 \| SLC9A6 \| DISEASES 6594 \| SMARCA1 \| DISEASES 51361 \| HOOK1 \| DISEASES 2902 \| GRIN1 \| DISEASES 4904 \| YBX1 \| DISEASES 57526 \| PCDH19 \| DISEASES 27328 \| PCDH11X \| DISEASES 6812 \| STXBP1 \| DISEASES 546 \| ATRX \| DISEASES 3065 \| HDAC1 \| DISEASES 80312 \| TET1 \| DISEASES 220202 \| ATOH7 \| DISEASES 6572 \| SLC18A3 \| DISEASES 9721 \| GPRIN2 \| DISEASES 714 \| C1QC \| DISEASES 367 \| AR \| DISEASES 9696 \| CROCC \| DISEASES 283078 \| MKX \| DISEASES 158471 \| PRUNE2 \| DISEASES 8869 \| ST3GAL5 \| DISEASES 2563 \| GABRD \| DISEASES 448831 \| FRG2 \| DISEASES 139411 \| PTCHD1 \| DISEASES 6792 \| CDKL5 \| DISEASES 139105 \| BEND2 \| DISEASES 25766 \| PRPF40B \| DISEASES 2925 \| GRPR \| DISEASES 6194 \| RPS6 \| DISEASES 56897 \| WRNIP1 \| DISEASES 51481 \| VCX3A \| DISEASES 7054 \| TH \| DISEASES 4336 \| MOBP \| DISEASES 22895 \| RPH3A \| DISEASES 84628 \| NTNG2 \| DISEASES 9315 \| NREP \| DISEASES 2737 \| GLI3 \| DISEASES 23096 \| IQSEC2 \| DISEASES 7337 \| UBE3A \| DISEASES 5634 \| PRPS2 \| DISEASES 81539 \| SLC38A1 \| DISEASES 1859 \| DYRK1A \| DISEASES 221037 \| JMJD1C \| DISEASES 9612 \| NCOR2 \| DISEASES 2570 \| GABRR2 \| DISEASES 55777 \| MBD5 \| DISEASES 93986 \| FOXP2 \| DISEASES 55660 \| PRPF40A \| DISEASES 200424 \| TET3 \| DISEASES 57468 \| SLC12A5 \| DISEASES 1385 \| CREB1 \| DISEASES 30827 \| CXXC1 \| DISEASES 285175 \| UNC80 \| DISEASES 5649 \| RELN \| DISEASES 146713 \| RBFOX3 \| DISEASES 2664 \| GDI1 \| DISEASES 4204 \| MECP2 \| DISEASES 93664 \| CADPS2 \| DISEASES 4152 \| MBD1 \| DISEASES 79718 \| TBL1XR1 \| DISEASES 8633 \| UNC5C \| DISEASES 2195 \| FAT1 \| DISEASES 1139 \| CHRNA7 \| DISEASES 627 \| BDNF \| DISEASES 6092 \| ROBO2 \| DISEASES 221687 \| RNF182 \| DISEASES 23221 \| RHOBTB2 \| DISEASES 1750 \| DLX6 \| DISEASES 11075 \| STMN2 \| DISEASES 3066 \| HDAC2 \| DISEASES 9791 \| PTDSS1 \| DISEASES 9152 \| SLC6A5 \| DISEASES 4975 \| OMP \| DISEASES 4857 \| NOVA1 \| DISEASES 5099 \| PCDH7 \| DISEASES 85358 \| SHANK3 \| DISEASES 89795 \| NAV3 \| DISEASES 23186 \| RCOR1 \| DISEASES 104355217 \| ERICD \| DISEASES 3653 \| IPW \| DISEASES 157627 \| LINC00599 \| DISEASES 55384 \| MEG3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) MECP2 \| Xq28

Disease ID	12
Disease	rett syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:39) HP:0001332 \| Dystonia HP:0011675 \| Arrhythmia HP:0009738 \| Abnormality of the antihelix HP:0001163 \| Abnormality of the metacarpal bones HP:0001324 \| Muscle weakness HP:0000929 \| Abnormality of the skull HP:0000708 \| Behavioral abnormality HP:0000717 \| Autism HP:0012742 \| Thin fingernail HP:0010864 \| Intellectual disability, severe HP:0000164 \| Abnormality of the teeth HP:0100716 \| Self-injurious behavior HP:0002353 \| EEG abnormality HP:0000733 \| Stereotypy HP:0004374 \| Hemiplegia/hemiparesis HP:0004322 \| Short stature HP:0001251 \| Ataxia HP:0002357 \| Dysphasia HP:0003199 \| Decreased muscle mass HP:0001250 \| Seizures HP:0004209 \| Clinodactyly of the 5th finger HP:0002093 \| Respiratory insufficiency HP:0002186 \| Apraxia HP:0002804 \| Arthrogryposis multiplex congenita HP:0002445 \| Tetraplegia HP:0001257 \| Spasticity HP:0002376 \| Developmental regression HP:0002240 \| Hepatomegaly HP:0001063 \| Acrocyanosis HP:0000716 \| Depression HP:0000400 \| Macrotia HP:0002308 \| Arnold-Chiari malformation HP:0002650 \| Scoliosis HP:0000252 \| Microcephaly HP:0100022 \| Abnormality of movement HP:0002120 \| Cerebral cortical atrophy HP:0001387 \| Joint stiffness HP:0001508 \| Failure to thrive HP:0001786 \| Narrow foot
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0001250 \| Seizures \| 8 HP:0001249 \| Mental retardation \| 6 HP:0001631 \| Atria septal defect \| 6 HP:0002650 \| Scoliosis \| 4 HP:0100543 \| Cognitive deficits \| 3 HP:0002948 \| Fusion of vertebral bodies \| 2 HP:0001266 \| Choreoathetosis \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0012469 \| Infantile spasms \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0002376 \| Loss of developmental milestones \| 1 HP:0000716 \| Depression \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0000657 \| Oculomotor apraxia \| 1 HP:0002353 \| Abnormal EEG \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0000712 \| Emotional instability \| 1 HP:0000826 \| Precocious puberty \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000211 \| Trismus \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0002186 \| Apraxia \| 1 HP:0003003 \| Colon cancer \| 1 HP:0010864 \| Early and severe mental retardation \| 1

Disease ID	12
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 C0036572 \| seizures \| 4 C0036439 \| scoliosis \| 4 C0025362 \| mental retardation \| 2 C0037317 \| sleep disturbance \| 1 C0235031 \| neurological symptoms \| 1 C0029456 \| osteoporosis \| 1

Manually Genotype(Total Text Mining 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
rs104894864	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030465	C	A
rs179363901	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097661	G	A
rs193922676	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030677	G	A
rs193922677	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030501	C	T
rs193922679	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031254	T	A
rs267608327	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030631	GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	-
rs267608329	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG	-
rs267608343	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA	-
rs267608372	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT	-
rs267608386	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031175	CCAGGACTTTTCT	-
rs267608409	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154092182	A	T
rs267608411	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032563	G	C
rs267608412	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032559	T	C
rs267608416	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032533	-	T
rs267608417	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032527	-	T
rs267608424	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032471	TCTTCTT	-
rs267608425	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032476	TT	-
rs267608426	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032473	TTCT	-
rs267608427	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032466	-	T
rs267608428	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032464	CT	-
rs267608434	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032416	GG	-
rs267608438	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032381	G	C
rs267608440	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032360	G	A
rs267608442	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032351	G	-
rs267608443	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032340	-	G
rs267608444	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032325	TG	-
rs267608445	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032310	C	A
rs267608446	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032308	-	C
rs267608449	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032287	GGT	-
rs267608452	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032257	-	T
rs267608457	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032209	G	-
rs267608463	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032206	C	T,A
rs267608464	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031452	T	G,C,A
rs267608465	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031453	G	C,A
rs267608469	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031446	G	C,A
rs267608475	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031415	A	T,G
rs267608476	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031408	C	-
rs267608482	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031357	-	A
rs267608483	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031357	GA	-
rs267608485	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031353	C	-
rs267608486	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031347	CA	-
rs267608487	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031343	-	T
rs267608488	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031339	CC	-
rs267608492	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031310	G	C
rs267608495	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031290	T	A
rs267608496	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031284	GA	-
rs267608499	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031261	-	C
rs267608503	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031226	-	C
rs267608506	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031219	-	T
rs267608507	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	NA	NA	NA	NA	NA
rs267608510	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031176	CA	-
rs267608513	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031155	G	T,C
rs267608514	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031151	-	T
rs267608516	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031132	-	C
rs267608517	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031117	-	C
rs267608518	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031107	-	G
rs267608519	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031069	CCTGCCGGGGCGTTTGATCACCATGA	-
rs267608520	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031085	ATCACCAT	CAC
rs267608521	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031078	G	AAGCTTCCTGA
rs267608522	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031074	-	G,GG
rs267608523	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031069	CCTG	-
rs267608524	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031048	-	TCGGCCTCAGCTTT
rs267608525	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031044	G	A
rs267608526	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031035	GA	-
rs267608529	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031015	CTTT	-
rs267608536	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030962	TT	-
rs267608538	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030958	-	T
rs267608540	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030926	AGTACGGTCTCCTGCACAGATC	-
rs267608541	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030945	A	-
rs267608543	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030924	GGAGTAC	-
rs267608544	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030930	C	-
rs267608548	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030922	G	-
rs267608558	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030830	CCGCT	-
rs267608559	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030801	CAGGGCTCTTACAGGTCTT	-
rs267608564	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030757	GCT	-
rs267608567	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030710	GAGTGGTGGTGATGGTGGTG	-
rs267608569	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030710	G	T,C
rs267608570	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030691	GGGGGCCTTTG	-
rs267608573	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030634	GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCA	-
rs267608574	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030640	GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG	-
rs267608576	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030673	GGGT	-
rs267608577	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030638	TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG	-
rs267608578	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030643	GCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG	-
rs267608579	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030631	GGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG	-
rs267608580	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030645	TCTCGGGCTCAGGTGGAGGTGGGGGCAGG	-
rs267608582	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030656	GGTGGAGGTGGGGGCAG	-
rs267608584	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030670	-	AG
rs267608585	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030640	GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	-
rs267608587	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030629	GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	-
rs267608588	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030630	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	-
rs267608589	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030635	TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	-
rs267608590	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030668	GG	A
rs267608591	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030643	GCTCTCGGGCTCAGGTGGAGGTGGGG	-
rs267608592	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG	-
rs267608593	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030640	GGAGCTCTCGGGCTCAGGTGGAGGTGGGG	-
rs267608595	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030662	GGTGGGG	-
rs267608596	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030623	GGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG	T
rs267608600	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030640	GGAGCTCTCGGGCTCAGGTGGAGGTG	-
rs267608601	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030649	GGGCTCAGGTGGAGGTG	-
rs267608603	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030622	GGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT	-
rs267608606	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030664	T	-
rs267608607	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030638	TCGGAGCTCTCGGGCTCAGGTGGAGG	-
rs267608609	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030621	GGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGT	-
rs267608610	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030637	-	T
rs267608612	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030630	-	G
rs267608613	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030627	-	G
rs267608614	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030625	-	C
rs267608617	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030568	TCTGGGCATCTTCTCCTCTTTGCAGA	-
rs267608624	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030507	-	A
rs267608627	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030463	-	G
rs267608637	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030355	CTCCGTGTAAAGTCAGCTAACTCT	-
rs267608638	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030375	CTCT	-
rs267608639	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030374	-	CT
rs267608640	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030371	CTAA	-
rs267608641	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030371	-	TA
rs28934904	18499664	4204	MECP2	umls:C0035372	BeFree	Here, 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.	0.8	2008	MECP2	X	154031431	G	C,A
rs28934904	16122633	4204	MECP2	umls:C0035372	BeFree	Classic Rett syndrome in a boy with R133C mutation of MECP2.	0.8	2005	MECP2	X	154031431	G	C,A
rs28934904	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031431	G	C,A
rs28934904	10508514	4204	MECP2	umls:C0035372	UNIPROT	Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.	0.8	1999	MECP2	X	154031431	G	C,A
rs28934905	10508514	4204	MECP2	umls:C0035372	UNIPROT	Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.	0.8	1999	MECP2	X	154031364	A	G,C
rs28934905	18499664	4204	MECP2	umls:C0035372	BeFree	Here, 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.	0.8	2008	MECP2	X	154031364	A	G,C
rs28934905	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031364	A	G,C
rs28934906	18499664	4204	MECP2	umls:C0035372	BeFree	Here, 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.	0.8	2008	MECP2	X	154031355	G	A
rs28934906	23035069	4204	MECP2	umls:C0035372	BeFree	In 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).	0.8	2012	MECP2	X	154031355	G	A
rs28934906	16905679	4204	MECP2	umls:C0035372	BeFree	Correlation 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.	0.8	2007	MECP2	X	154031355	G	A
rs28934906	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031355	G	A
rs28934906	10508514	4204	MECP2	umls:C0035372	UNIPROT	Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.	0.8	1999	MECP2	X	154031355	G	A
rs28934907	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032268	G	C,A
rs28934907	18499664	4204	MECP2	umls:C0035372	BeFree	Here, 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.	0.8	2008	MECP2	X	154032268	G	C,A
rs28934907	10508514	4204	MECP2	umls:C0035372	UNIPROT	Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.	0.8	1999	MECP2	X	154032268	G	C,A
rs28934908	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031409	G	T,A
rs28935168	11055898	4204	MECP2	umls:C0035372	UNIPROT	Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.	0.8	2000	MECP2	X	154032286	G	C
rs28935168	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032286	G	C
rs28935468	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030912	G	A
rs28935468	10577905	4204	MECP2	umls:C0035372	UNIPROT	Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.	0.8	1999	MECP2	X	154030912	G	A
rs386134271	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030642	AGCTCTCGGGCTCAGGTGGAGGTGGGGGC	TGG
rs56268439	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030639	C	A,T
rs587783132	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097665	T	C,A
rs61748381	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031226	G	A
rs61748389	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031430	C	T,A
rs61748390	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031427	G	C,A
rs61748393	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031417	C	-
rs61748396	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031405	G	T,C
rs61748398	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031399	-	A
rs61748399	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031398	T	A
rs61748400	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031397	T	-
rs61748402	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031377	C	-
rs61748404	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031373	G	C
rs61748408	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031360	G	C,A
rs61748415	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031348	A	-
rs61748418	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031345	C	-
rs61748420	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031329	G	A
rs61748421	16905679	4204	MECP2	umls:C0035372	BeFree	Correlation 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.	0.8	2007	MECP2	X	154031326	G	T,A
rs61748421	23035069	4204	MECP2	umls:C0035372	BeFree	In 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).	0.8	2012	MECP2	X	154031326	G	T,A
rs61748421	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031326	G	T,A
rs61748421	19349604	4204	MECP2	umls:C0035372	BeFree	In 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).	0.8	2009	MECP2	X	154031326	G	T,A
rs61748425	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031320	G	A
rs61749703	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031297	T	-
rs61749707	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031274	C	-
rs61749708	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031262	C	-
rs61749709	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031260	-	T
rs61749715	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031154	G	C,A
rs61749717	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031236	T	G,A
rs61749718	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031230	T	A
rs61749721	23035069	4204	MECP2	umls:C0035372	BeFree	In 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).	0.8	2012	MECP2	X	154031065	G	A
rs61749721	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031065	G	A
rs61749723	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030923	G	T,C,A
rs61749724	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031217	G	C
rs61749726	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031215	C	G,A
rs61749727	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031211	C	-
rs61749728	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031207	-	A
rs61749729	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031206	G	A
rs61749734	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031171	CTTC	-
rs61749736	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031150	-	T
rs61749739	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031142	G	T,A
rs61749741	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031132	G	-
rs61749743	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031118	C	-
rs61749747	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031098	G	A
rs61749749	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031091	-	AT
rs61749750	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031089	C	-
rs61749751	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031076	-	GGCGT,G
rs61749752	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031079	-	G,A
rs61750225	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031075	GGGGCG	CGGCC
rs61750231	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031075	G	-
rs61750232	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031072	-	C
rs61750233	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031073	C	-
rs61750235	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031064	-	GCTTCCTG
rs61750238	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031029	T	A
rs61750240	11738872	4204	MECP2	umls:C0035372	BeFree	Among 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).	0.8	2001	MECP2	X	154031020	G	C,A
rs61750240	17914728	4204	MECP2	umls:C0035372	BeFree	A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X).	0.8	2007	MECP2	X	154031020	G	C,A
rs61750240	16077729	4204	MECP2	umls:C0035372	BeFree	p.R270X MECP2 mutation and mortality in Rett syndrome.	0.8	2005	MECP2	X	154031020	G	C,A
rs61750240	23035069	4204	MECP2	umls:C0035372	BeFree	In 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).	0.8	2012	MECP2	X	154031020	G	C,A
rs61750240	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031020	G	C,A
rs61750241	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031022	C	-
rs61750242	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031010	CCCGGCT	-
rs61750247	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030998	G	-
rs61750256	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030969	CTTT	-
rs61750259	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030963	T	A
rs61751361	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030953	-	T
rs61751362	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030948	G	C,A
rs61751364	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030944	GATCG	-
rs61751367	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030939	G	A
rs61751443	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030911	C	T,A
rs61751444	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030903	G	A
rs61751449	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030864	G	C,A
rs61752365	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030790	G	C
rs61752372	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030749	G	T
rs61752375	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030741	T	A
rs61752992	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	-
rs61753011	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030633	-	A
rs61753965	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030612	G	A
rs61753972	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030519	GA	-
rs61753979	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030471	G	A
rs61754419	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030641	GAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	-
rs61754421	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032556	C	G,A
rs61754425	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032529	G	A
rs61754426	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032508	G	-
rs61754427	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032493	C	-
rs61754428	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032481	TATC	-
rs61754430	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032457	-	C
rs61754431	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032443	-	T
rs61754432	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032438	G	T,C
rs61754436	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032394	TC	-
rs61754437	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032390	G	C
rs61754438	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032383	C	-
rs61754441	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032368	-	G,A
rs61754453	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032282	G	T,C,A
rs61754455	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032273	C	T
rs61754456	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032268	-	T
rs61754457	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032267	C	T,A
rs61755761	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032239	G	-
rs62641234	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032520	T	A
rs62701461	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030927	GTAC	-
rs62931162	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031020	G	-
rs62952161	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031389	C	-
rs63009262	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	-
rs63094662	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030648	C	T,A
rs63260260	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031133	C	-
rs63583161	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030661	AGGTGGGGGC	-
rs63749008	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032541	-	TTCTGACT
rs63749010	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032261	AGCTTCCGTGTCC	-
rs63749012	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030996	CTGCCACCACACTCCCC	-
rs63749023	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030636	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGG	-
rs63749024	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030637	CTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG	-
rs63749029	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030642	AGCTCTCGGGCTCAGGTGGAGGTGGGGGC	-
rs63749030	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	-
rs63749038	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030563	CCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCA	-
rs63749064	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030539	GGGCAGCCGTCGCTCTCCAGTGAGC	CGGCCGCT
rs63749748	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	-
rs672601302	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030832	GCTCTTCT	NNNNNNNNNNNNNNNNNN
rs727505391	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031344	T	C
rs786204307	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031255	G	-
rs786204309	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031112	GCCCCACCCCCCTCA	-
rs786204310	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031046	GGGTCGGCCTCAGCTTTTCGCTTCCTGCC	-
rs786204311	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030992	-	CGGCTGCCACCACACTCCC
rs786204316	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030417	TG	-
rs786205019	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	NA	NA	NA	NA	NA
rs786205020	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030634	GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT	-
rs786205021	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030647	-	A
rs786205023	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030417	TGTT	CA
rs786205025	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032262	-	CTTC
rs786205027	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031062	T	A
rs786205028	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031010	CCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCT	-
rs786205029	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030997	-	NNNNNNNNNNNNNNNNNNNNNNN
rs786205030	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030969	CTTTC	AGTCTTTTTTTT
rs786205031	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030948	GGATAGAAGACT	TGTG
rs786205038	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097638	-	CGGCG
rs786205040	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097636	G	TC
rs786205042	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097609	CTCCTCCTCGC	-
rs786205043	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097611	CCTCCTCG	-
rs786205044	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097610	-	CCTCCTCG
rs786205045	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097618	G	A
rs786205047	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097606	TC	-
rs786205049	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097601	CA	-
rs786205892	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154092209	T	A
rs786205895	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031438	T	-
rs797044733	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154030661	-	G
rs797045693	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154097635	CG	-
rs797045694	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154032527	CTGGAGGTCCT	-
rs797045695	NA	4204	MECP2	umls:C0035372	CLINVAR	NA	0.8	NA	MECP2	X	154031156	-	ATCTTGA

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100022	Abnormality of movement	MP:0001404	no spontaneous movement;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100035	Phonic tics	MP:0003633	abnormal nervous system physiology;HP:0012531	Pain

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)