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GENE - TERM ANNOTATION REPORT

RGD ID: 732217
Species: Homo sapiens
RGD Object: Gene
Symbol: SLC26A2
Name: solute carrier family 26 member 2
Acc ID: DOID:0070300
Term: multiple epiphyseal dysplasia 4
Definition: A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10465113 "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)
SLC26A2 IAGP 13208864RGDDN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human) 
SLC26A2 IAGP 7240710OMIM  
SLC26A2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10482955 PMID:11241838 PMID:25741868 PMID:28492532 PMID:7923357 PMID:8528239
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:17393463 PMID:25741868 PMID:28492532
SLC26A2 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)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11558903 PMID:25741868 PMID:28492532
SLC26A2 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)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:28492532
SLC26A2 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) 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) 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) 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) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae 
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:12525546 PMID:20981092 PMID:21228398 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10482955 PMID:11241838 PMID:28492532 PMID:7923357
SLC26A2 IAGP (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: Multiple epiphyseal dysplasia with bilayered patellaePMID:25741868
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:28492532 PMID:7923357 PMID:8528239 PMID:8571951
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:28492532 PMID:7923357
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10482955
SLC26A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:21077204 PMID:21922596 PMID:25741868 PMID:28492532 PMID:8571951
SLC26A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11448940 PMID:15294877 PMID:21077204 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11448940 PMID:15294877 PMID:21077204 PMID:21922596 PMID:28492532 PMID:8571951
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:11727031 PMID:15720248 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11448940 PMID:15294877 PMID:21077204 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:18553123
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:26077908
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:16642506 PMID:25741868 PMID:28492532 PMID:31880411
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:21922596 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:29024831
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:12525546
SLC26A2 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)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae 
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11565064 PMID:12525546 PMID:15294877 PMID:15316973 PMID:16642506 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:21077202 PMID:21155763 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:8571951 PMID:8931695 PMID:9342225
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10482955 PMID:11241838 PMID:11448940 PMID:15294877 PMID:15316973 PMID:18925670 PMID:20301524 PMID:21155763 PMID:25741868 PMID:28492532 PMID:7923357 PMID:8528239
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10482955 PMID:18708426 PMID:20301524 PMID:21077202 PMID:21922596 PMID:23840040 PMID:24598000 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:11448940 PMID:12525546 PMID:12966518 PMID:15294877 PMID:19344236 PMID:20301524 PMID:20525296 PMID:21077204 PMID:21922596 PMID:25741868 PMID:28492532 PMID:7695699 PMID:8218237
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patellaPMID:11448940 PMID:15294877 PMID:20301524 PMID:30462520 PMID:8528239 PMID:8723100
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:18708426 PMID:20301524 PMID:21228398 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11558903 PMID:20301524 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:10482955 PMID:11241838 PMID:28492532 PMID:7923357 PMID:8931695
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11448940 PMID:28492532 PMID:8571951
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11448940 PMID:15294877 PMID:21077204 PMID:21922596 PMID:25741868 PMID:28492532 PMID:8571951
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:11448940 PMID:15294877 PMID:21077204 PMID:21922596 PMID:25741868 PMID:28492532 PMID:8571951
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:25741868 PMID:28492532
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838
SLC26A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellaePMID:11241838 PMID:21155763 PMID:25741868 PMID:34064542 PMID:7923357 PMID:8702127 PMID:8723100
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