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ONTOLOGY REPORT - ANNOTATIONS


Term:Neonatal Severe Encephalopathy due to Mecp2 Mutations
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Accession:DOID:9006413 term browser browse the term
Synonyms:exact_synonym: Mecp2-Related Severe Neonatal Encephalopathy;   Neonatal Severe Encephalopathy due to Mecp2 Mutation
 primary_id: MESH:C566878
 alt_id: OMIM:300673;   RDO:0015094
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Neonatal Severe Encephalopathy due to Mecp2 Mutations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 153,724,851 153,744,755 RGD:8554872
G ARHGAP4 Rho GTPase activating protein 4 JBrowse link X 153,907,378 153,926,264 RGD:8554872
G ATP6AP1 ATPase H+ transporting accessory protein 1 JBrowse link X 154,428,669 154,436,516 RGD:8554872
G AVPR2 arginine vasopressin receptor 2 JBrowse link X 153,902,625 153,907,166 RGD:8554872
G BCAP31 B cell receptor associated protein 31 JBrowse link X 153,700,492 153,724,746 RGD:8554872
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 154,401,236 154,412,101 RGD:8554872
G EMD emerin JBrowse link X 154,379,236 154,381,523 RGD:8554872
G FAM3A FAM3 metabolism regulating signaling molecule A JBrowse link X 154,506,159 154,516,257 RGD:8554872
G FAM50A family with sequence similarity 50 member A JBrowse link X 154,444,141 154,450,654 RGD:8554872
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8554872
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 154,531,390 154,547,569 RGD:8554872
G GDI1 GDP dissociation inhibitor 1 JBrowse link X 154,437,154 154,443,467 RGD:8554872
G HCFC1 host cell factor C1 JBrowse link X 153,947,556 153,972,360 RGD:8554872
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 153,785,768 153,794,375 RGD:8554872
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,212 154,565,046 RGD:8554872
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 154,010,507 154,019,984 RGD:8554872
G L1CAM L1 cell adhesion molecule JBrowse link X 153,861,514 153,886,173 RGD:8554872
G LAGE3 L antigen family member 3 JBrowse link X 154,477,769 154,479,257 RGD:8554872
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:8554872
RGD:7240710
G NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 153,929,225 153,935,037 RGD:8554872
G OPN1LW opsin 1, long wave sensitive JBrowse link X 154,144,243 154,159,032 RGD:8554872
G OPN1MW opsin 1, medium wave sensitive JBrowse link X 154,182,596 154,196,861 RGD:8554872
G OPN1MW2 opsin 1, medium wave sensitive 2 JBrowse link X 154,219,734 154,233,286 RGD:8554872
G PDZD4 PDZ domain containing 4 JBrowse link X 153,802,166 153,830,887 RGD:8554872
G PLXNA3 plexin A3 JBrowse link X 154,458,281 154,477,779 RGD:8554872
G PLXNB3 plexin B3 JBrowse link X 153,764,196 153,779,346 RGD:8554872
G RENBP renin binding protein JBrowse link X 153,935,263 153,944,643 RGD:8554872
G RPL10 ribosomal protein L10 JBrowse link X 154,398,065 154,402,339 RGD:8554872
G SLC10A3 solute carrier family 10 member 3 JBrowse link X 154,487,310 154,490,656 RGD:8554872
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 153,687,926 153,696,593 RGD:8554872
G SRPK3 SRSF protein kinase 3 JBrowse link X 153,781,001 153,785,732 RGD:8554872
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,794,159 153,798,512 RGD:8554872
G TAZ tafazzin JBrowse link X 154,411,539 154,421,726 RGD:8554872
G TEX28 testis expressed 28 JBrowse link X 154,271,265 154,295,356 RGD:8554872
G TKTL1 transketolase like 1 JBrowse link X 154,295,795 154,330,350 RGD:8554872
G TMEM187 transmembrane protein 187 JBrowse link X 153,972,754 153,983,194 RGD:8554872
G UBL4A ubiquitin like 4A JBrowse link X 154,483,717 154,486,615 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16434
    Developmental Diseases 10218
      Neurodevelopmental Disorders 5275
        intellectual disability 2046
          Mental Retardation, X-Linked 825
            Neonatal Severe Encephalopathy due to Mecp2 Mutations 37
Path 2
Term Annotations click to browse term
  disease 16434
    disease of anatomical entity 15409
      nervous system disease 11678
        central nervous system disease 9554
          brain disease 8975
            disease of mental health 6913
              developmental disorder of mental health 3790
                specific developmental disorder 2206
                  intellectual disability 2046
                    syndromic intellectual disability 842
                      Mental Retardation, X-Linked 825
                        Neonatal Severe Encephalopathy due to Mecp2 Mutations 37
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.