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GENE - TERM ANNOTATION REPORT

RGD ID: 2659
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gamt
Name: guanidinoacetate N-methyltransferase
Acc ID: DOID:0050799
Term: guanidinoacetate methyltransferase deficiency
Definition: A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gamt ISOGAMT (Homo sapiens)7240710OMIM  
Gamt ISOGAMT (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15651030
Gamt ISOGAMT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related conditionPMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:23846910 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:2476685 PMID:25741868 PMID:25741913 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:28055022 PMID:28438604 PMID:28492532 PMID:29506905 PMID:29655203 PMID:31130284 PMID:31222513 PMID:32214227 PMID:33996490 PMID:34015165 PMID:34389248 PMID:35588794 PMID:8651275 PMID:9386672 PMID:9536098
Gamt ISSGamt (Mus musculus)13592920MouseDOOMIM:612736 
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