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GENE - TERM ANNOTATION REPORT

RGD ID: 69270
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc5a7
Name: solute carrier family 5 member 7
Acc ID: DOID:0111201
Term: distal hereditary motor neuronopathy type 7A
Definition: A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23141292
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:13488397240710OMIM  
 ISORGD:13488398554872ClinVarClinVar Annotator: match by OMIM:158580

PMID:11294660, PMID:23141292, PMID:7420092
 ISORGD:13488398554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia

PMID:25741868
 ISORGD:13488398554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia

PMID:25741868, PMID:28492532
 ISORGD:13488398554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia

PMID:27569547, PMID:28492532
 ISORGD:13488398554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia

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.