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GENE - TERM ANNOTATION REPORT

RGD ID: 1304826
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Alg12
Name: ALG12, alpha-1,6-mannosyltransferase
Acc ID: DOID:0080559
Term: congenital disorder of glycosylation Ig
Definition: A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation, https://www.ncbi.nlm.nih.gov/pubmed/17506107
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13124927240710OMIM  
 ISORGD:13124928554872ClinVarClinVar Annotator: match by OMIM:607143

PMID:11983712, PMID:12736397
 ISORGD:13124928554872ClinVarClinVar Annotator: match by OMIM:607143

PMID:12093361
 ISORGD:13124928554872ClinVarClinVar Annotator: match by OMIM:607143

PMID:12217961
 ISORGD:13124928554872ClinVarClinVar Annotator: match by OMIM:607143

PMID:17506107
 ISORGD:13124928554872ClinVarClinVar Annotator: match by OMIM:607143

PMID:25019053
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation

PMID:15639192, PMID:28492532
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G

 
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G

PMID:12217961, PMID:17506107, PMID:25326635, PMID:25741868
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G

PMID:25326635, PMID:25741868
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G

PMID:25741868
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G

PMID:25741868, PMID:28492532
 ISORGD:13124928554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.