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GENE - TERM ANNOTATION REPORT

RGD ID: 733686
Species: Homo sapiens
RGD Object: Gene
Symbol: SLC34A1
Name: solute carrier family 34 member 1
Acc ID: DOID:0080077
Term: hypophosphatemic nephrolithiasis/osteoporosis 1
Definition: A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12324554 "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)
SLC34A1 IAGP 7240710OMIM  
SLC34A1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:26047794 PMID:26787776 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:16688119 PMID:21597970 PMID:25296721 PMID:25741868 PMID:26047794 PMID:28492532 PMID:29924459 PMID:29959532 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:16199547 PMID:26047794 PMID:28492532
SLC34A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:26787776 PMID:28492532 PMID:33099630
SLC34A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 
SLC34A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:24033266 PMID:25741868 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:17576681 PMID:25741868 PMID:26047794 PMID:28492532 PMID:9536098
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:16688119 PMID:25741868 PMID:28492532 PMID:28893421
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:28492532 PMID:31672324
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25050900 PMID:28492532 PMID:30943683
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:28492532 PMID:30778725
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:26047794 PMID:28492532
SLC34A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:28492532 PMID:28893421 PMID:29959532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25741868 PMID:28492532 PMID:28893421
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:12324554 PMID:25741868 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:16199547 PMID:25741868 PMID:26047794 PMID:28492532
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:25082825 PMID:25741868 PMID:26272126
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:17576681 PMID:26047794 PMID:27378183 PMID:28492532 PMID:9536098
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:24033266 PMID:25741868
SLC34A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1PMID:12324554 PMID:14672348 PMID:28492532
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