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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:glycine encephalopathy
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Accession:DOID:9268 term browser browse the term
Definition:An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. (DO)
Synonyms:exact_synonym: GCE;   Non ketotic Hyperglycinemia;   Non-ketotic Hyperglycinemias;   Nonketotic Hyperglycinemias;   glycine encephalopathies;   nonketotic hyperglycinemia;   type I nonketotic hyperglycinemia;   type II nonketotic hyperglycinemia;   type III nonketotic hyperglycinemia
 narrow_synonym: NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL;   TNH
 primary_id: MESH:D020158
 xref: GARD:7219;   ICD10CM:E72.51;   MIM:PS605899;   NCI:C84937


show annotations for term's descendants           Sort by:
glycine encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase susceptibility ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.H42R(human)
DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human)		 ClinVar
CTD
RGD		 PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 PMID:9580775 More... RGD:1599106, RGD:12879455, RGD:11073529 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:10861296 PMID:22220808 PMID:25741868 PMID:26075876 PMID:28492532 NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:9536098 PMID:12402263 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Gldc glycine decarboxylase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
OMIM:605899
DNA:deletions: :
DNA:mutation:cds: c.2607C>A(human)		 CTD
ClinVar
MouseDO
RGD		 PMID:660 PMID:80128 PMID:445864 PMID:1634607 PMID:1996985 More... RGD:12904646, RGD:11062733 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589 PMID:9536098 PMID:9621520 PMID:16199547 PMID:16450403 More... NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISS OMIM:605899 MouseDO NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
Glycine Encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 ClinVar PMID:6179960 PMID:8005589 PMID:9600239 PMID:10873393 PMID:11139253 More... NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 OMIM
ClinVar		 PMID:445864 PMID:1634607 PMID:1996985 PMID:9536098 PMID:10798358 More... NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 ClinVar PMID:16450403 PMID:19299230 PMID:25741868 PMID:27362913 PMID:28492532 More... NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
Glycine Encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 OMIM
ClinVar		 PMID:4434100 PMID:8005589 PMID:9580775 PMID:9600239 PMID:9621520 More... NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 ClinVar PMID:9621520 PMID:16450403 PMID:25741868 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 More... NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728 		JBrowse link
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 OMIM
ClinVar		 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
Non Ketotic Hyperglycinemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glyctk glycerate kinase ISO ClinVar Annotator: match by term: Non ketotic hyperglycinemia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Nutritional and Metabolic Diseases 8513
      disease of metabolism 8513
        inherited metabolic disorder 6601
          Metabolic Brain Diseases, Inborn 1386
            glycine encephalopathy 14
              GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
              Glycine Encephalopathy 1 3
              Glycine Encephalopathy 2 2
              Non Ketotic Hyperglycinemia Syndrome 1
              Transient Neonatal Hyperglycinemia 0
              multiple mitochondrial dysfunctions syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            Metabolic Brain Diseases 1520
              Metabolic Brain Diseases, Inborn 1386
                glycine encephalopathy 14
                  GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
                  Glycine Encephalopathy 1 3
                  Glycine Encephalopathy 2 2
                  Non Ketotic Hyperglycinemia Syndrome 1
                  Transient Neonatal Hyperglycinemia 0
                  multiple mitochondrial dysfunctions syndrome 2 2
paths to the root