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GENE - TERM ANNOTATION REPORT

RGD ID: 1319661
Species: Mus musculus
RGD Object: Gene
Symbol: Rxylt1
Name: ribitol xylosyltransferase 1
Acc ID: DOID:0111239
Term: congenital muscular dystrophy-dystroglycanopathy type A10
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23217329
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:13196607240710OMIM  
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10

PMID:23217329
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10

PMID:23519211
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

PMID:23217329, PMID:23519211, PMID:28492532
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

PMID:23217329, PMID:24033266, PMID:28492532
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

PMID:25741868
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

PMID:25741868, PMID:28492532
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

PMID:26467025, PMID:28492532
 ISORGD:13196608554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

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.