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
Accession: DOID:9268
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 ; NCI:C84937 ; OMIM:PS605899
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Amt
aminomethyltransferase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.H42R(human) DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human) ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
CTD ClinVar RGD
PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 PMID:9580775 PMID:9600239 PMID:9621520 PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:15272469 PMID:16051266 PMID:16199547 PMID:16450403 PMID:17576681 PMID:19299230 PMID:20301531 PMID:20949620 PMID:21520333 PMID:22171071 PMID:22261077 PMID:22532538 PMID:23352163 PMID:24033266 PMID:25231368 PMID:25640679 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:30105116 PMID:31319225 PMID:33726816 PMID:8005589 PMID:9600239 PMID:9621520 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
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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 PMID:33890291 PMID:36190515 More...
NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
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Gldc
glycine decarboxylase
ISO ISS
CTD Direct Evidence: marker/mechanism DNA:mutation:cds: c.2607C>A(human) DNA:deletions: : OMIM:605899 ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
CTD MouseDO ClinVar RGD
PMID:660 PMID:445864 PMID:1634607 PMID:1996985 PMID:9536098 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:16199547 PMID:16404748 PMID:16450403 PMID:16601880 PMID:16802295 PMID:17074608 PMID:17361008 PMID:17576681 PMID:18581728 PMID:20301531 PMID:20691948 PMID:20933183 PMID:21316884 PMID:21411353 PMID:22171071 PMID:22206881 PMID:22532538 PMID:22633639 PMID:23349517 PMID:24033266 PMID:24123366 PMID:24407464 PMID:25231368 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26179960 PMID:26467025 PMID:26539891 PMID:26749113 PMID:26947380 PMID:26969502 PMID:27362813 PMID:27362913 PMID:27535533 PMID:27617160 PMID:27799067 PMID:27884173 PMID:27896094 PMID:28116331 PMID:28244183 PMID:28302194 PMID:28416785 PMID:28468868 PMID:28492532 PMID:28737873 PMID:29046206 PMID:29153744 PMID:29205322 PMID:29232014 PMID:29239742 PMID:29929752 PMID:29988937 PMID:30609409 PMID:31028937 PMID:31319225 PMID:31785789 PMID:32421718 PMID:32593896 PMID:32743799 PMID:33502061 PMID:33524012 PMID:33977025 PMID:34513771 PMID:34587689 PMID:35616651 PMID:273629130 PMID:15851735 PMID:17361008 More...
RGD:11062733 , RGD:12904646
NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
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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
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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
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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 PMID:17576681 PMID:19299230 PMID:23352163 PMID:25741868 PMID:26179960 PMID:26467025 PMID:27362913 PMID:27620832 PMID:28492532 PMID:30105116 More...
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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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
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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
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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
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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
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Gldc
glycine decarboxylase
ISO
ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 1
OMIM ClinVar
PMID:10873393 PMID:11286506 PMID:12126939 PMID:12402263 PMID:15670722 PMID:15791207 PMID:16199547 PMID:16601880 PMID:17361008 PMID:20301531 PMID:20691948 PMID:22171071 PMID:25741868 PMID:26179960 PMID:26539891 PMID:27362913 PMID:28492532 PMID:29232014 More...
NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
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Amt
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Glycine encephalopathy 2
OMIM ClinVar
PMID:4434100 PMID:8005589 PMID:9600239 PMID:9621520 PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:16199547 PMID:16450403 PMID:20301531 PMID:20949620 PMID:22261077 PMID:23352163 PMID:25231368 PMID:25741868 PMID:26179960 PMID:27164344 PMID:27362913 PMID:28244183 PMID:28462797 PMID:28492532 More...
NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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Nicn1
nicolin 1, tubulin polyglutamylase complex subunit
ISO
ClinVar Annotator: match by term: Glycine encephalopathy 2
ClinVar
PMID:9621520 PMID:16450403 PMID:28492532
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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Slc6a9
solute carrier family 6 member 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 PMID:27481395 PMID:27773429 PMID:28492532 PMID:29190063 PMID:32712301 More...
NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
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Apbb2
amyloid beta precursor protein binding family B member 2
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
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Chrna9
cholinergic receptor nicotinic alpha 9 subunit
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
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Fam114a1
family with sequence similarity 114, member A1
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,275,693...43,346,154
Ensembl chr14:43,275,701...43,346,174
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Klb
klotho beta
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Klhl5
kelch-like family member 5
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
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Lias
lipoic acid synthetase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
OMIM CTD ClinVar
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:27923773 PMID:28492532 PMID:28817111 PMID:36680912 More...
NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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Limch1
LIM and calponin homology domains 1
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:41,112,579...41,425,001
Ensembl chr14:41,114,803...41,425,191
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N4bp2
NEDD4 binding protein 2
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960
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Nsun7
NOP2/Sun RNA methyltransferase family member 7
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:41,878,562...41,935,238
Ensembl chr14:41,879,293...41,934,949
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Pds5a
PDS5 cohesin associated factor A
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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Rbm47
RNA binding motif protein 47
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
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Rfc1
replication factor C subunit 1
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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Rhoh
ras homolog family member H
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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Rpl9
ribosomal protein L9
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar
PMID:28492532
NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136 Ensembl chr 3:42,893,942...42,897,136
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Smim14
small integral membrane protein 14
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760
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Tlr1
toll-like receptor 1
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr10
toll-like receptor 10
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
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Tlr6
toll-like receptor 6
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Tmem156
transmembrane protein 156
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449
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Ube2k
ubiquitin-conjugating enzyme E2K
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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Ugdh
UDP-glucose 6-dehydrogenase
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar
PMID:28492532
NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
PMID:28492532
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Bola3
bolA family member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2
OMIM CTD ClinVar
PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 PMID:26741492 PMID:28492532 PMID:30302924 More...
NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797
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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
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