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: AGAT deficiency
Accession: DOID:0050712
browse the term
Definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)
Synonyms: exact_synonym: Arginine:Glycine Amidinotransferase Deficiency; CCDS3; Creatine Deficiency Syndrome due to AGAT Deficiency; GATM deficiency; L-Arginine:Glycine Aminidotransferase Deficiency; cerebral creatine deficiency syndrome 3
primary_id: MESH:C567192
alt_id: OMIM:612718 ; RDO:0015333
For additional species annotation, visit the
Alliance of Genome Resources .
G
B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
G
Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
G
Duox1
dual oxidase 1
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802
G
Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
G
Duoxa1
dual oxidase maturation factor 1
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647
G
Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
G
Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 ClinVar Annotator: match by term: AGAT deficiency ClinVar Annotator: match by OMIM:612718 ClinVar Annotator: match by null
OMIM ClinVar
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216
NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
G
MGC105649
hypothetical LOC302884
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,772,603...114,776,156
Ensembl chr 3:114,772,603...114,776,155
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Patl2
PAT1 homolog 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,065,814...114,075,404
Ensembl chr 3:114,066,840...114,074,803
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Shf
Src homology 2 domain containing F
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250
G
Slc28a2
solute carrier family 28 member 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382
G
Slc30a4
solute carrier family 30 member 4
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
G
Sord
sorbitol dehydrogenase
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
G
Spata5l1
spermatogenesis associated 5-like 1
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,747,410...114,760,409
Ensembl chr 3:114,747,410...114,760,409
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Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
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Terb2
telomere repeat binding bouquet formation protein 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926
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Trim69
tripartite motif-containing 69
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,103,011...114,123,293
Ensembl chr 3:114,102,875...114,126,523
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