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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 autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
Synonyms:exact_synonym: GCE;   Glycine Encephalopathies;   Hyperglycinemia, Nonketotic;   Non ketotic Hyperglycinemia;   Non-ketotic Hyperglycinemias;   Nonketotic Hyperglycinemias;   Type I Nonketotic Hyperglycinemia;   Type II Nonketotic Hyperglycinemia;   Type III Nonketotic Hyperglycinemia
 narrow_synonym: NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL;   TNH
 primary_id: MESH:D020158;   RDO:0002539
 alt_id: OMIM:605899
 xref: GARD:7219;   ICD10CM:E72.51;   NCI:C84937
For additional species annotation, visit the Alliance of Genome Resources.


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
DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human)
DNA:missense mutation:exon:p.H42R(human)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4434100, PMID:6179960, PMID:8005589, PMID:9600239, PMID:9621520, PMID:10873393, PMID:11139253, PMID:11286506, PMID:12948742, PMID:15272469, PMID:16051266, PMID:16450403, PMID:19299230, PMID:20949620, PMID:22171071, PMID:22261077, PMID:23352163, PMID:24033266, PMID:24838951, PMID:25231368, PMID:25741868, PMID:26179960, PMID:26371980, PMID:26467025, PMID:27164344, PMID:27362913, PMID:27620832, PMID:27884173, PMID:28244183, PMID:28462797, PMID:28492532, PMID:29300369, PMID:30311386, PMID:31319225, PMID:8005589, PMID:9621520, PMID:9600239 RGD:1599106, RGD:11073529, RGD:12879455 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
ClinVar Annotator: match by OMIM:605899
OMIM
ClinVar
PMID:12402263, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
DNA:deletions: :
DNA:mutation:cds: c.2607C>A(human)
ClinVar Annotator: match by OMIM:605899
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:660, PMID:445864, PMID:1634607, PMID:1996985, PMID:10798358, PMID:10873393, PMID:11286506, PMID:11592811, PMID:12126939, PMID:12402263, PMID:15192636, PMID:15236413, PMID:15272469, PMID:15670722, PMID:15791207, PMID:15824356, PMID:15851735, PMID:15864413, PMID:16404748, PMID:16450403, PMID:16601880, PMID:16802295, PMID:17361008, PMID:18581728, PMID:20691948, PMID:20933183, PMID:21411353, PMID:22002442, PMID:22171071, PMID:22633639, PMID:23349517, PMID:24033266, PMID:24123366, PMID:24407464, PMID:25231368, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26179960, PMID:26467025, PMID:26539891, PMID:26749113, PMID:26947380, PMID:26969502, PMID:27362913, PMID:27617160, PMID:27799067, PMID:27884173, PMID:27896094, PMID:28116331, PMID:28244183, PMID:28302194, PMID:28468868, PMID:28492532, PMID:29205322, PMID:29232014, PMID:29239742, PMID:29988937, PMID:30311386, PMID:30609409, PMID:31319225, PMID:273629130, PMID:17361008, PMID:15851735 RGD:12904646, RGD:11062733 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589, PMID:9621520, PMID:16450403, PMID:19299230, PMID:23352163, PMID:26467025, PMID:27362913, PMID:27620832, PMID:28492532 NCBI chr 8:117,062,989...117,068,134
Ensembl chr 8:117,062,884...117,068,130
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISS OMIM:605899 MouseDO NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
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 ClinVar
OMIM
PMID:27481395, PMID:27773429, PMID:28492532, PMID:29190063 NCBI chr 5:136,669,674...136,703,702
Ensembl chr 5:136,669,674...136,703,697
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680, PMID:22152680, PMID:24334290, PMID:26467025, PMID:27923773, PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:302924, PMID:11156534, PMID:21944046, PMID:22562699, PMID:24334290, PMID:25741868, PMID:28492532 NCBI chr 4:115,046,693...115,056,140
Ensembl chr 4:115,046,693...115,056,140
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        inherited metabolic disorder 2222
          Metabolic Brain Diseases, Inborn 503
            glycine encephalopathy 11
              GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
              Hyperglycinemia, Lactic Acidosis, and Seizures 3
              Hyperglycinemia, Transient Neonatal 0
              Non Ketotic Hyperglycinemia Syndrome 0
              multiple mitochondrial dysfunctions syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                glycine encephalopathy 11
                  GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
                  Hyperglycinemia, Lactic Acidosis, and Seizures 3
                  Hyperglycinemia, Transient Neonatal 0
                  Non Ketotic Hyperglycinemia Syndrome 0
                  multiple mitochondrial dysfunctions syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.