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) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
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 |
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 |
MECP2 | c.148_152del (p.E50fs) | doi:10.1038/gim.2016.42 | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 |
MECP2 | c.41_57dup17 (p.R20fs) | doi:10.1038/gim.2016.42 | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 |
MECP2 | c.A1G (p.M1V) | doi:10.1038/gim.2016.42 | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 |
MECP2 | NM_004992, c.397C>T (p.R133C) | doi:10.1038/gim.2015.186 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
MECP2 | NM_004992, c.473C>T (p.T158M) | doi:10.1038/gim.2015.186 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
MECP2 | NM_004992, c.1164_1207del44 (p.P389*) | doi:10.1038/gim.2015.186 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
MECP2 | Het del exon 3–4 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
MECP2 | Het dup exon 3–4 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
MECP2 | Ex4:c.1161C>T / p.(=) (Benign); Ex4:c.608C>T / p.T203M (Benign); Ex4:c.683C>G / p.T228S (Pathogenic) | doi:10.1038/gim.2015.30 | Standards 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 |
JMJD1C | Exon 4, c. 488C>T | doi:10.1038/gim.2015.100 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:280) | |||||||||||||
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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) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:12) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired 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:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete 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:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous 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:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
HP:0009738 | Abnormality of the antihelix | MP:0012167 | abnormal epigenetic regulation of gene expression | any 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:0000733 | Stereotypic behavior | MP:0012312 | impaired avoidance learning behavior | impaired 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:0001163 | Abnormality of the metacarpal bones | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any 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:0003199 | Decreased muscle mass | MP:0009404 | centrally nucleated skeletal muscle fibers | cell 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any 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:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0003199 | Decreased muscle mass | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0009738 | Abnormality of the antihelix | MP:0020039 | increased bone ossification | increase 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:0002445 | Tetraplegia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0004374 | Hemiplegia/hemiparesis | MP:3000003 | abnormal Ebner's gland morphology | any 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:0002308 | Arnold-Chiari malformation | MP:0020039 | increased bone ossification | increase 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
HP:0000929 | Abnormality of the skull | MP:0014179 | abnormal blood-retinal barrier function | anomaly 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:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
HP:0001786 | Narrow foot | MP:0011110 | preweaning lethality, incomplete penetrance | the 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:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased 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:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased 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:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0001163 | Abnormality of the metacarpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0000733 | Stereotypic behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0002357 | Dysphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0002186 | Apraxia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any 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.) |